Author: "Duong, Tina" / Publication Type: Electronic Resources - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Duong, Tina"' showing total 30 results

Start Over Author "Duong, Tina" Publication Type Electronic Resources

30 results on '"Duong, Tina"'

1. Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

Author: Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney W.J., Benmhammed, Noor, Médard, Laurie, Servais, Laurent, Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney W.J., Benmhammed, Noor, Médard, Laurie, and Servais, Laurent
Abstract: Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I–III patients with a median age of 11.2 (0.39–57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e. those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients’ caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients’ and patients’ caregivers’ experience of the effect of nusinersen treatment in SMA., SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2024

2. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author: Young, Sally Dunaway, McGrattan, Katlyn, Johnson, Emily, van der Heul, Marise, Duong, Tina, Bakke, Merete, Werlauff, Ulla, Pasternak, Amy, Cattaneo, Camilla, Hoffman, Katie, Fanelli, Lavinia, Breaks, Anne, Allison, Kristen, Baranello, Giovanni, Finkel, Richard, Coratti, Giorgia, Lofra, Robert Muni, Young, Sally Dunaway, McGrattan, Katlyn, Johnson, Emily, van der Heul, Marise, Duong, Tina, Bakke, Merete, Werlauff, Ulla, Pasternak, Amy, Cattaneo, Camilla, Hoffman, Katie, Fanelli, Lavinia, Breaks, Anne, Allison, Kristen, Baranello, Giovanni, Finkel, Richard, Coratti, Giorgia, and Lofra, Robert Muni
Abstract: BACKGROUND: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits in SMA impedes the ability to monitor function, facilitate intervention, or detect treatment response.OBJECTIVE: To fill this void, an international multidisciplinary team gathered to develop an agreed upon consensus-derived assessment of bulbar function in SMA for inter-professional administration to enhance our ability to monitor disease progression, support clinical management, and evaluate treatment effects.METHODS: Fifty-six international clinicians experienced in SMA were invited and engaged using the Delphi method over multiple rounds of web-based surveys to establish consensus.RESULTS: Serial virtual meetings occurred with 42 clinicians (21 speech and language therapists, 11 physical therapists, 5 neurologists, 4 occupational therapists, and 1 dentist). Seventy-two validated assessments of bulbar function were identified for potential relevance to individuals with SMA (32 accessible objective, 11 inaccessible objective, 29 patient-reported outcomes). Delphi survey rounds (n = 11, 15, 15) achieved consensus on individual items with relevance and wording discussed. Key aspects of bulbar function identified included: oral intake status, oral facial structure and motor strength, swallowing physiology, voice & speech, and fatigability.CONCLUSIONS: Multidisciplinary clinicians with expertise in bulbar function and SMA used Delphi methodology to reach consensus on assessments/items considered relevant for SMA across all age groups. Future steps include piloting the new scale moving towards validation/reliability. This work supports the advancement of assessing bulbar function in children and adults with SMA by a variety of professionals.
Published: 2023

3. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author: Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)
Abstract: The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in the RHS score up to two years in paediatric SMA 2 and 3 participants and contextualise it to the Hammersmith Functional Motor Scale-Expanded (HFMSE). These change scores were considered by SMA type, motor function, and baseline RHS score. We consider a new transitional group, spanning crawlers, standers, and walkers-with-assistance, and analyse that alongside non-sitters, sitters, and walkers. The transitional group exhibit the most definitive change score trend, with an average 1-year decline of 3 points. In the weakest patients, we are most able to detect positive change in the RHS in the under-5 age group, whereas in the stronger patients, we are most able to detect decline in the RHS in the 8-13 age group. The RHS has a reduced floor effect compared to the HFMSE, although we show that the RHS should be used in conjunction with the RULM for participants scoring less than 20 points on the RHS. The timed items in the RHS have high between-participant variability, so participants with the same RHS total can be differentiated by their timed test items.
Published: 2023

4. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author: Young, Sally Dunaway, Mcgrattan, Katlyn, Johnson, Emily, van der Heul, Marise, Duong, Tina, Bakke, Merete, Werlauff, Ulla, Pasternak, Amy, Cattaneo, Camilla, Hoffman, Katie, Fanelli, Lavinia, Breaks, Anne, Allison, Kristen, Baranello, Giovanni, Finkel, Richard, Coratti, Giorgia, Lofra, Robert Muni, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Young, Sally Dunaway, Mcgrattan, Katlyn, Johnson, Emily, van der Heul, Marise, Duong, Tina, Bakke, Merete, Werlauff, Ulla, Pasternak, Amy, Cattaneo, Camilla, Hoffman, Katie, Fanelli, Lavinia, Breaks, Anne, Allison, Kristen, Baranello, Giovanni, Finkel, Richard, Coratti, Giorgia, Lofra, Robert Muni, and Coratti, Giorgia (ORCID:0000-0001-6666-5628)
Abstract: Background: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits in SMA impedes the ability to monitor function, facilitate intervention, or detect treatment response. Objective: To fill this void, an international multidisciplinary team gathered to develop an agreed upon consensus-derived assessment of bulbar function in SMA for inter-professional administration to enhance our ability to monitor disease progression, support clinical management, and evaluate treatment effects. Methods: Fifty-six international clinicians experienced in SMA were invited and engaged using the Delphi method over multiple rounds of web-based surveys to establish consensus. Results: Serial virtual meetings occurred with 42 clinicians (21 speech and language therapists, 11 physical therapists, 5 neurologists, 4 occupational therapists, and 1 dentist). Seventy-two validated assessments of bulbar function were identified for potential relevance to individuals with SMA (32 accessible objective, 11 inaccessible objective, 29 patient-reported outcomes). Delphi survey rounds (n = 11, 15, 15) achieved consensus on individual items with relevance and wording discussed. Key aspects of bulbar function identified included: oral intake status, oral facial structure and motor strength, swallowing physiology, voice & speech, and fatigability. Conclusions: Multidisciplinary clinicians with expertise in bulbar function and SMA used Delphi methodology to reach consensus on assessments/items considered relevant for SMA across all age groups. Future steps include piloting the new scale moving towards validation/reliability. This work supports the advancement of assessing bulbar function in children and adults with SMA by a variety of professionals.
Published: 2023

5. The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD.

Author: Duong, Tina, Duong, Tina, Canbek, Jennifer, Birkmeier, Marisa, Nelson, Leslie, Siener, Catherine, Fernandez-Fernandez, Alicia, Henricson, Erik, Gordish-Dressman, Heather, McDonald, Craig, Duong, Tina, Duong, Tina, Canbek, Jennifer, Birkmeier, Marisa, Nelson, Leslie, Siener, Catherine, Fernandez-Fernandez, Alicia, Henricson, Erik, Gordish-Dressman, Heather, and McDonald, Craig
Abstract: BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare x-linked recessive genetic disorder affecting 1 in every 5000-10000 [1, 2]. This disease leads to a variable but progressive sequential pattern of muscle weakness that eventually causes loss of important functional milestones such as the ability to walk. With promising drugs in development to ameliorate the effects of muscle weakness, these treatments must be associated with a clinically meaningful functional change. OBJECTIVE: The objective of this analysis is to determine both distribution, minimal detectable change (MDC), and anchor-based, minimal clinically important difference, (MCID) of 12 month change values in standardized time function tests (TFT) used to monitor disease progression in DMD. METHOD: This is a retrospective analysis of prospectively collected data from a multi-center prospective natural history study with the Cooperative International Neuromuscular Research Group (CINRG). This study calculated MDC and MCID values for 3 commonly used timed function tests typically used to monitor disease progression; supine to stand (STS), 10 meter walk/run (10MWT), and 4 stair climb (4SC). MDC used standard error of measurement (SEM) while MCID measurements used the Vignos scale as an anchor to determine clinical change in functional status. RESULTS: All 3 TFT were significantly important clinical endpoints to detect MDC and MCID changes. MDC and MCID 12 month changes were significant in 10MWT (-0.138, -0.212), Supine to Stand (-0.026, -0.023) and 4 stair climb (-0.034, -0.035) with an effect size greater or close to 0.2. CONCLUSION: The 3 TFT are clinically meaningful endpoints used to establish change in DMD. MCID values were higher than MDC values indicating that an anchor-based approach using Vignos as a clinically meaningful loss of lower extremity abilities is appropriate to assess change in boys with DMD.
Published: 2021

6. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.

Author: Sabbatini, Daniele, Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, McDonald, Craig, Sabbatini, Daniele, Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, and McDonald, Craig
Abstract: Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.
Published: 2022

7. Table_2_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docx

Author: Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., and Straub, Volker
Abstract: Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R2 0.18). EK scores were strongly associated with PUL (Pseudo R2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.
Published: 2022

8. Table_1_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docx

Author: Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., and Straub, Volker
Abstract: Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R2 0.18). EK scores were strongly associated with PUL (Pseudo R2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.
Published: 2022

9. Genetic modifiers of upper limb function in Duchenne muscular dystrophy

Author: Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, D'Angelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo P, Panicucci, Chiara, Bissoli, Claudio Bruno, D'Amico, Adele, Bertini, Enrico Silvio, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano C, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio Maria, Hoffman, Eric P, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Mcdonald, Craig M, Bello, Luca, Pegoraro, Elena, Bruno, Claudio, Bertini, Enrico, Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, D'Angelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo P, Panicucci, Chiara, Bissoli, Claudio Bruno, D'Amico, Adele, Bertini, Enrico Silvio, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano C, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio Maria, Hoffman, Eric P, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Mcdonald, Craig M, Bello, Luca, Pegoraro, Elena, Bruno, Claudio, Bertini, Enrico, Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)
Abstract: Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.
Published: 2022

10. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

Author: Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, MRC Centre Neuromuscular Biobank (UK), Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, MRC Centre Neuromuscular Biobank (UK), Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., and Straub, Volker
Abstract: Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R 2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R 2 0.18). EK scores were strongly associated with PUL (Pseudo R 2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R 2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.
Published: 2022

11. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Author: Coratti, Giorgia, Pera, Maria Carmela, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, De Sanctis, Roberto, Mazzone, Elena Stacy, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico Silvio, Day, John, Muntoni, Francesco, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Carmela Pera, Maria (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), de Sanctis, Roberto, Stacy Mazzone, Elena, Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Coratti, Giorgia, Pera, Maria Carmela, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, De Sanctis, Roberto, Mazzone, Elena Stacy, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico Silvio, Day, John, Muntoni, Francesco, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Carmela Pera, Maria (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), de Sanctis, Roberto, Stacy Mazzone, Elena, Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)
Abstract: The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.79 points. The difference between baseline and 24 months was significant in type II but not in type III patients. There was also a difference among functional subgroups but not in relation to age. Most patients had 24-month mean changes within 2 points, with 23% decreasing more than 2 points and 7% improving by >2 points. Our results suggest an overall progressive decline in upper limb function over 24 months. The negative changes were most notable in type II, in non-ambulant type III and with a different pattern of progression, also in non-sitter type II. In contrast, ambulant type III showed relative stability within the 24-month follow up. These findings will help in the interpretation of the real world data collected following the availability of new therapeutic approaches. (C) 2021 Elsevier B.V. All rights reserved.
Published: 2022

12. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

Author: Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, Jacobs, Marni, James, Meredith K., Lowes, Linda Pax, Alfano, Lindsay, Eagle, Michelle, Muni Lofra, Robert, Moore, Ursula, Feng, Jia, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Mayhew, Anna G., Straub, Volker, Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, Jacobs, Marni, James, Meredith K., Lowes, Linda Pax, Alfano, Lindsay, Eagle, Michelle, Muni Lofra, Robert, Moore, Ursula, Feng, Jia, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Mayhew, Anna G., and Straub, Volker
Abstract: [Objective] Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale and identify factors that influence the rate of disease progression using NSAD., [Methods] We collected a longitudinal series of functional assessments from 187 patients with dysferlinopathy over 3 years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and nonambulant patients. Generalized estimating equations were used to evaluate the impact of patient factors on outcome trajectories., [Results] The NSAD detected significant change in clinical progression over 1 year. The steepest functional decline occurred during the first 10 years after symptom onset, with more rapid decline noted in patients who developed symptoms at a younger age (p = 0.04). The most rapidly deteriorating group over the study was patients 3 to 8 years post symptom onset at baseline., [Interpretation] The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinical practice and clinical trials. Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short-term for clinical trial preparation. Through further work and validation in this cohort, we anticipate that a disease model incorporating functional performance will allow for more accurate prognosis for patients with dysferlinopathy. ANN NEUROL 2021;89:967–978
Published: 2021

13. Improving Care and Empowering Adults Living with SMA:A Call to Action in the New Treatment Era

Author: Walter, Maggie C., Chiriboga, Claudia, Duong, Tina, Goemans, Nathalie, Mayhew, Anna, Ouillade, Laëtitia, Oskoui, Maryam, Quinlivan, Ros, Vázquez-Costa, Juan F., Vissing, John, Servais, Laurent, Walter, Maggie C., Chiriboga, Claudia, Duong, Tina, Goemans, Nathalie, Mayhew, Anna, Ouillade, Laëtitia, Oskoui, Maryam, Quinlivan, Ros, Vázquez-Costa, Juan F., Vissing, John, and Servais, Laurent
Abstract: While Spinal Muscular Atrophy (SMA) has historically been managed with supportive measures, the emergence of innovative medicines has given those living with SMA hope for improved quality of life and has revolutionized care. Despite these advances, the use of therapies and changes in disease management strategies have focused on pediatric populations, leaving adults living with SMA, and those transitioning into adulthood, relatively neglected. Through a multi-faceted approach that gathered unbiased perspectives from clinical experts, validated insights from individuals with lived experiences, and substantiated findings with evidence from the literature, we have exposed unmet needs that are hindering the field and, ultimately, impacting care and quality of life for adults living with SMA. Here, we set new aspirations and calls to action to inspire continued research in this field, stimulate dialogue across the SMA community and inform policies that deliver effective management and care throughout an adult's journey living with SMA.
Published: 2021

14. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Author: J Volpe, Joseph, Posner, John, Koch, Armin, Kellner, Ulrich, Quinlivan, Rosaline, Deconinck, Nicola, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Zanoteli, Edmar, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Letícia Fornazieri Darcie, Ana, Machado, Cleide, Kiyoko Oyamada, Maria, de Souza Costa, Daniel, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Wang, Yi, Hu, Chaoping, Shi, Yiyun, Zhou, Shuizhen, Zhu, Xiaomei, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Martina, Martina, Delic, Galiot, Kristina Ivkić, Petra, Vukojević, Nenad, Kern, Ivana, Najdanovic, Bori, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andrea, Barreau, Emmanuel, Da Cunha, Elodie, Lambotin, Céline, Mnafek, Nabila, Peche, Helene, Gilabert, Stephanie, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Perticari, Ariadna, Tachibana, Shotaro, Baranello, Giovanni, Masson, Riccardo, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Teresa Arnoldi, Maria, Vigano, Marta, Zanin, Riccardo, Bruno, Claudio, Brolatti, Noemi, Pedemonte, Marina, Priolo, Enrico, Rao, Giuseppe, Spaletra, Enrica, Sposetti, Lorenza, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pietro Comi, Giacomo, Govoni, Alessandra, Gabriella Osnaghi, Silvia, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Minuti, Elisa, Mercuri, Eugenio Maria, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Takeshima, Yasuhiro, Gomi, Fumi, Kimura, Naoki, Morimatsu, Takanobu, Okamoto, Mana, Furukawa, Toru, Mazurkiewicz-Bełdzińska, Maria, Koberda, Mateusz, Kubiak, Natalia, Stodolska-Koberda, Urszula, Waśkowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Vlodavets, Dmitry, Artemyeva, Svetlana, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Litvinova, Elena, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Klein, Andrea, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Siems, Patricia, Kreiliger, Verena, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ardicli, Didem, Eroglu Ertugrul, Nesibe, Gharibzadeh, Hizal, Gunbey, Ceren, Konuskan, Bahadir, Serel Arslan, Selen, Ebru Yalcin, Elam, Gokcem Yildiz Sarikaya, Fatma, Eldem, Bora, Kadayıfçılar, Sibel, Alemdaroglu, Ipek, Ayse Karaduman, Aynur, Tunca Yilmaz, Oznur, T Darras, Basil, J Graham, Robert, Ghosh, Partha, Casavant, David, Snyder, Brian, Levine, Alexi, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Maria Baglieri, Anna, Dias, Courtney, Maczek, Elizabeth, Mirek, Elizabeth, Pasternak, Amy, W Day, John, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Giovanni Baranello, Eugenio Mercuri (ORCID:0000-0002-9851-5365), Marika Pane (ORCID:0000-0002-4851-6124), Maria Carmela Pera (ORCID:0000-0001-6777-1721), Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti (ORCID:0000-0001-6666-5628), Roberto De Sanctis, J Volpe, Joseph, Posner, John, Koch, Armin, Kellner, Ulrich, Quinlivan, Rosaline, Deconinck, Nicola, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Zanoteli, Edmar, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Letícia Fornazieri Darcie, Ana, Machado, Cleide, Kiyoko Oyamada, Maria, de Souza Costa, Daniel, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Wang, Yi, Hu, Chaoping, Shi, Yiyun, Zhou, Shuizhen, Zhu, Xiaomei, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Martina, Martina, Delic, Galiot, Kristina Ivkić, Petra, Vukojević, Nenad, Kern, Ivana, Najdanovic, Bori, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andrea, Barreau, Emmanuel, Da Cunha, Elodie, Lambotin, Céline, Mnafek, Nabila, Peche, Helene, Gilabert, Stephanie, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Perticari, Ariadna, Tachibana, Shotaro, Baranello, Giovanni, Masson, Riccardo, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Teresa Arnoldi, Maria, Vigano, Marta, Zanin, Riccardo, Bruno, Claudio, Brolatti, Noemi, Pedemonte, Marina, Priolo, Enrico, Rao, Giuseppe, Spaletra, Enrica, Sposetti, Lorenza, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pietro Comi, Giacomo, Govoni, Alessandra, Gabriella Osnaghi, Silvia, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Minuti, Elisa, Mercuri, Eugenio Maria, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Takeshima, Yasuhiro, Gomi, Fumi, Kimura, Naoki, Morimatsu, Takanobu, Okamoto, Mana, Furukawa, Toru, Mazurkiewicz-Bełdzińska, Maria, Koberda, Mateusz, Kubiak, Natalia, Stodolska-Koberda, Urszula, Waśkowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Vlodavets, Dmitry, Artemyeva, Svetlana, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Litvinova, Elena, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Klein, Andrea, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Siems, Patricia, Kreiliger, Verena, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ardicli, Didem, Eroglu Ertugrul, Nesibe, Gharibzadeh, Hizal, Gunbey, Ceren, Konuskan, Bahadir, Serel Arslan, Selen, Ebru Yalcin, Elam, Gokcem Yildiz Sarikaya, Fatma, Eldem, Bora, Kadayıfçılar, Sibel, Alemdaroglu, Ipek, Ayse Karaduman, Aynur, Tunca Yilmaz, Oznur, T Darras, Basil, J Graham, Robert, Ghosh, Partha, Casavant, David, Snyder, Brian, Levine, Alexi, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Maria Baglieri, Anna, Dias, Courtney, Maczek, Elizabeth, Mirek, Elizabeth, Pasternak, Amy, W Day, John, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Giovanni Baranello, Eugenio Mercuri (ORCID:0000-0002-9851-5365), Marika Pane (ORCID:0000-0002-4851-6124), Maria Carmela Pera (ORCID:0000-0001-6777-1721), Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti (ORCID:0000-0001-6666-5628), and Roberto De Sanctis
Abstract: Background Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein. Risdiplam is an orally administered small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein in blood. Methods We conducted an open-label study of risdiplam in infants with type 1 SMA who were 1 to 7 months of age at enrollment. Part 1 of the study (published previously) determined the dose to be used in part 2 (reported here), which assessed the efficacy and safety of daily risdiplam as compared with no treatment in historical controls. The primary end point was the ability to sit without support for at least 5 seconds after 12 months of treatment. Key secondary end points were a score of 40 or higher on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND; range, 0 to 64, with higher scores indicating better motor function), an increase of at least 4 points from baseline in the CHOP-INTEND score, a motor-milestone response as measured by Section 2 of the Hammersmith Infant Neurological Examination (HINE-2), and survival without permanent ventilation. For the secondary end points, comparisons were made with the upper boundary of 90% confidence intervals for natural-history data from 40 infants with type 1 SMA. Results A total of 41 infants were enrolled. After 12 months of treatment, 12 infants (29%) were able to sit without support for at least 5 seconds, a milestone not attained in this disorder. The percentages of infants in whom the key secondary end points were met as compared with the upper boundary of confidence intervals from historical controls were 56% as compared with 17% for a CHOP-INTEND score of 40 or higher, 90% as compared with 17% for an increase of at least 4 points from baseline in the CHOP-INTEND score, 78% as compar
Published: 2021

15. Improving Care and Empowering Adults Living with SMA:A Call to Action in the New Treatment Era

Author: Walter, Maggie C., Chiriboga, Claudia, Duong, Tina, Goemans, Nathalie, Mayhew, Anna, Ouillade, Laëtitia, Oskoui, Maryam, Quinlivan, Ros, Vázquez-Costa, Juan F., Vissing, John, Servais, Laurent, Walter, Maggie C., Chiriboga, Claudia, Duong, Tina, Goemans, Nathalie, Mayhew, Anna, Ouillade, Laëtitia, Oskoui, Maryam, Quinlivan, Ros, Vázquez-Costa, Juan F., Vissing, John, and Servais, Laurent
Abstract: While Spinal Muscular Atrophy (SMA) has historically been managed with supportive measures, the emergence of innovative medicines has given those living with SMA hope for improved quality of life and has revolutionized care. Despite these advances, the use of therapies and changes in disease management strategies have focused on pediatric populations, leaving adults living with SMA, and those transitioning into adulthood, relatively neglected. Through a multi-faceted approach that gathered unbiased perspectives from clinical experts, validated insights from individuals with lived experiences, and substantiated findings with evidence from the literature, we have exposed unmet needs that are hindering the field and, ultimately, impacting care and quality of life for adults living with SMA. Here, we set new aspirations and calls to action to inspire continued research in this field, stimulate dialogue across the SMA community and inform policies that deliver effective management and care throughout an adult's journey living with SMA.
Published: 2021

16. A multinational study on motor function in early-onset FSHD.

Author: Duong, Tina, Duong, Tina, Carroll, Kate, de Valle, Katy, Carty, Cara, Morgenroth, Lauren, Guglieri, Michela, Ryan, Monique, Clemens, Paula, Thangarajh, Mathula, Webster, Richard, Smith, Edward, Connolly, Anne, Mah, Jean, Feng, Jia, Karachunski, Peter, Tulinius, Mar, Harper, Amy, Cnaan, Avital, Chen, Yi-Wen, McDonald, Craig, Jacobs, Marni, Duong, Tina, Duong, Tina, Carroll, Kate, de Valle, Katy, Carty, Cara, Morgenroth, Lauren, Guglieri, Michela, Ryan, Monique, Clemens, Paula, Thangarajh, Mathula, Webster, Richard, Smith, Edward, Connolly, Anne, Mah, Jean, Feng, Jia, Karachunski, Peter, Tulinius, Mar, Harper, Amy, Cnaan, Avital, Chen, Yi-Wen, McDonald, Craig, and Jacobs, Marni
Abstract: OBJECTIVES: To investigate motor function associations with age, sex, and D4Z4 repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age. METHODS: We collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers. To measure associations, we used linear regression models adjusted for sex, evaluation age, age at onset of weakness, and D4Z4 repeats. RESULTS: Among 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older enrollment age was associated with greater CSSs (p = 0.003). When adjusted for enrollment age, sex, and D4Z4 repeats, younger age at onset of facial weakness was associated with greater CSSs, slower velocities in timed function tests, and lower MMT scores (p < 0.05). CONCLUSION: Significant clinical variability was observed in early-onset FSHD. Earlier age at onset of facial weakness was associated with greater disease severity. Longitudinal assessments are needed to determine the rate of disease progression in this population.
Published: 2018

17. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Author: Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina, Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, and Duong, Tina
Abstract: Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course suggests that other factors influence disease progression. With this study we aimed to identify genetic factors that may account for some of the variability in the clinical presentation. We compared whole-exome sequencing (WES) data in 27 DMD patients with extreme phenotypes to identify candidate variants that could affect disease progression. Validation of the candidate SNPs was performed in two independent cohorts including 301 (BIO-NMD cohort) and 109 (CINRG cohort of European ancestry) DMD patients, respectively. Variants in the Tctex1 domain containing 1 (TCTEX1D1) gene on chromosome 1 were associated with age of ambulation loss. The minor alleles of two independent variants, known to affect TCTEX1D1 coding sequence and induce skipping of its exon 4, were associated with earlier loss of ambulation. Our data show that disease progression of DMD is affected by a new locus on chromosome 1 and demonstrate the possibility to identify genetic modifiers in rare diseases by studying WES data in patients with extreme phenotypes followed by multiple layers of validation.
Published: 2020

18. Conference report on contractures in musculoskeletal and neurological conditions.

Author: Nuckolls, Glen, Nuckolls, Glen, Kinnett, Kathi, Dayanidhi, Sudarshan, Domenighetti, Andrea, Duong, Tina, Hathout, Yetrib, Lawlor, Michael, Lee, Sabrina, Magnusson, S, McNally, Elizabeth, Miller, Natalie, Olwin, Bradley, Raghavan, Preeti, Roberts, Thomas, Rutkove, Seward, Sarwark, John, Senesac, Claudia, Vogel, Leslie, Walter, Glenn, Willcocks, Rebecca, Rymer, William, Lieber, Richard, McDonald, Craig, Nuckolls, Glen, Nuckolls, Glen, Kinnett, Kathi, Dayanidhi, Sudarshan, Domenighetti, Andrea, Duong, Tina, Hathout, Yetrib, Lawlor, Michael, Lee, Sabrina, Magnusson, S, McNally, Elizabeth, Miller, Natalie, Olwin, Bradley, Raghavan, Preeti, Roberts, Thomas, Rutkove, Seward, Sarwark, John, Senesac, Claudia, Vogel, Leslie, Walter, Glenn, Willcocks, Rebecca, Rymer, William, Lieber, Richard, and McDonald, Craig
Abstract: Limb contractures are debilitating complications associated with various muscle and nervous system disorders. This report summarizes presentations at a conference at the Shirley Ryan AbilityLab in Chicago, Illinois, on April 19-20, 2018, involving researchers and physicians from diverse disciplines who convened to discuss current clinical and preclinical understanding of contractures in Duchenne muscular dystrophy, stroke, cerebral palsy, and other conditions. Presenters described changes in muscle architecture, activation, extracellular matrix, satellite cells, and muscle fiber sarcomeric structure that accompany or predispose muscles to contracture. Participants identified ongoing and future research directions that may lead to understanding of the intersecting factors that trigger contractures. These include additional studies of changes in muscle, tendon, joint, and neuronal tissues during contracture development with imaging, molecular, and physiologic approaches. Participants identified the requirement for improved biomarkers and outcome measures to identify patients likely to develop contractures and to accurately measure efficacy of treatments currently available and under development.
Published: 2020

19. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Author: Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina, Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, and Duong, Tina
Abstract: Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course suggests that other factors influence disease progression. With this study we aimed to identify genetic factors that may account for some of the variability in the clinical presentation. We compared whole-exome sequencing (WES) data in 27 DMD patients with extreme phenotypes to identify candidate variants that could affect disease progression. Validation of the candidate SNPs was performed in two independent cohorts including 301 (BIO-NMD cohort) and 109 (CINRG cohort of European ancestry) DMD patients, respectively. Variants in the Tctex1 domain containing 1 (TCTEX1D1) gene on chromosome 1 were associated with age of ambulation loss. The minor alleles of two independent variants, known to affect TCTEX1D1 coding sequence and induce skipping of its exon 4, were associated with earlier loss of ambulation. Our data show that disease progression of DMD is affected by a new locus on chromosome 1 and demonstrate the possibility to identify genetic modifiers in rare diseases by studying WES data in patients with extreme phenotypes followed by multiple layers of validation.
Published: 2020

20. Conference report on contractures in musculoskeletal and neurological conditions

Author: Nuckolls, Glen H., Kinnett, Kathi, Dayanidhi, Sudarshan, Domenighetti, Andrea A., Duong, Tina, Hathout, Yetrib, Lawlor, Michael W., Lee, Sabrina S.M., Magnusson, S. Peter, McDonald, Craig M., McNally, Elizabeth M., Miller, Natalie F., Olwin, Bradley B., Raghavan, Preeti, Roberts, Thomas J., Rutkove, Seward B., Sarwark, John F., Senesac, Claudia R., Vogel, Leslie F., Walter, Glenn A., Willcocks, Rebecca J., Rymer, William Z., Lieber, Richard L., Nuckolls, Glen H., Kinnett, Kathi, Dayanidhi, Sudarshan, Domenighetti, Andrea A., Duong, Tina, Hathout, Yetrib, Lawlor, Michael W., Lee, Sabrina S.M., Magnusson, S. Peter, McDonald, Craig M., McNally, Elizabeth M., Miller, Natalie F., Olwin, Bradley B., Raghavan, Preeti, Roberts, Thomas J., Rutkove, Seward B., Sarwark, John F., Senesac, Claudia R., Vogel, Leslie F., Walter, Glenn A., Willcocks, Rebecca J., Rymer, William Z., and Lieber, Richard L.
Abstract: Limb contractures are debilitating complications associated with various muscle and nervous system disorders. This report summarizes presentations at a conference at the Shirley Ryan AbilityLab in Chicago, Illinois, on April 19–20, 2018, involving researchers and physicians from diverse disciplines who convened to discuss current clinical and preclinical understanding of contractures in Duchenne muscular dystrophy, stroke, cerebral palsy, and other conditions. Presenters described changes in muscle architecture, activation, extracellular matrix, satellite cells, and muscle fiber sarcomeric structure that accompany or predispose muscles to contracture. Participants identified ongoing and future research directions that may lead to understanding of the intersecting factors that trigger contractures. These include additional studies of changes in muscle, tendon, joint, and neuronal tissues during contracture development with imaging, molecular, and physiologic approaches. Participants identified the requirement for improved biomarkers and outcome measures to identify patients likely to develop contractures and to accurately measure efficacy of treatments currently available and under development.
Published: 2020

21. Assessment of disease progression in dysferlinopathy. A 1-year cohort study

Author: Jain Foundation, Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernández-Torrón, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Muni Lofra, Robert, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Méndez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Rocha, Carolina Tesi, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Matthew, Harms, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin'ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry W., Bushby, Kate, Straub, Volker, Jain Foundation, Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernández-Torrón, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Muni Lofra, Robert, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Méndez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Rocha, Carolina Tesi, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Matthew, Harms, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin'ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry W., Bushby, Kate, and Straub, Volker
Abstract: [Objective] To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year., [Methods] One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis., [Results] The functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint., [Conclusion] Certain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials., [ClinicalTrials.gov identifier] NCT01676077.
Published: 2019

22. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy

Author: Montes, Jacqueline, Young, Sally Dunaway, Mazzone, Elena, Main, Marion, Bartels, Bart, Civitello, Matthew, Coratti, Giorgia, Duong, Tina, Estilow, Timothy, Gee, Richard, Glanzman, Allan M., Kitsuwa-Lowe, Janis, Mayhew, Anna, Mirek, Elizabeth, Lofra, Robert Muni, Pandya, Shree, Pasternak, Amy, Ramsey, Danielle, Salazar, Rachel, Turner, Jenna, Wells, Julie, International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group, Montes, Jacqueline, Young, Sally Dunaway, Mazzone, Elena, Main, Marion, Bartels, Bart, Civitello, Matthew, Coratti, Giorgia, Duong, Tina, Estilow, Timothy, Gee, Richard, Glanzman, Allan M., Kitsuwa-Lowe, Janis, Mayhew, Anna, Mirek, Elizabeth, Lofra, Robert Muni, Pandya, Shree, Pasternak, Amy, Ramsey, Danielle, Salazar, Rachel, Turner, Jenna, Wells, Julie, and International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group
Published: 2017

23. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy

Author: Montes, Jacqueline, Young, Sally Dunaway, Mazzone, Elena, Main, Marion, Bartels, Bart, Civitello, Matthew, Coratti, Giorgia, Duong, Tina, Estilow, Timothy, Gee, Richard, Glanzman, Allan M., Kitsuwa-Lowe, Janis, Mayhew, Anna, Mirek, Elizabeth, Lofra, Robert Muni, Pandya, Shree, Pasternak, Amy, Ramsey, Danielle, Salazar, Rachel, Turner, Jenna, Wells, Julie, International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group, Montes, Jacqueline, Young, Sally Dunaway, Mazzone, Elena, Main, Marion, Bartels, Bart, Civitello, Matthew, Coratti, Giorgia, Duong, Tina, Estilow, Timothy, Gee, Richard, Glanzman, Allan M., Kitsuwa-Lowe, Janis, Mayhew, Anna, Mirek, Elizabeth, Lofra, Robert Muni, Pandya, Shree, Pasternak, Amy, Ramsey, Danielle, Salazar, Rachel, Turner, Jenna, Wells, Julie, and International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group
Published: 2017

24. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy

Author: Kinderbewegingszorg patientenzorg, Child Health, Montes, Jacqueline, Young, Sally Dunaway, Mazzone, Elena, Main, Marion, Bartels, Bart, Civitello, Matthew, Coratti, Giorgia, Duong, Tina, Estilow, Timothy, Gee, Richard, Glanzman, Allan M., Kitsuwa-Lowe, Janis, Mayhew, Anna, Mirek, Elizabeth, Lofra, Robert Muni, Pandya, Shree, Pasternak, Amy, Ramsey, Danielle, Salazar, Rachel, Turner, Jenna, Wells, Julie, International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group, Kinderbewegingszorg patientenzorg, Child Health, Montes, Jacqueline, Young, Sally Dunaway, Mazzone, Elena, Main, Marion, Bartels, Bart, Civitello, Matthew, Coratti, Giorgia, Duong, Tina, Estilow, Timothy, Gee, Richard, Glanzman, Allan M., Kitsuwa-Lowe, Janis, Mayhew, Anna, Mirek, Elizabeth, Lofra, Robert Muni, Pandya, Shree, Pasternak, Amy, Ramsey, Danielle, Salazar, Rachel, Turner, Jenna, Wells, Julie, and International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group
Published: 2017

25. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

Author: Ramsey, Danielle, Scoto, Mariacristina, Mayhew, Anna, Main, Marion, Mazzone, Elena Stacy, Montes, Jacqueline, De Sanctis, Roberto, Dunaway Young, Sally, Salazar, Rachel, Glanzman, Allan M, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Duong, Tina, Gee, Richard, Civitello, Matthew, Tennekoon, Gihan, Pane, Marika, Pera, Maria Carmela, Bushby, Kate, Day, John, Darras, Basil T, De Vivo, Darryl, Finkel, Richard, Mercuri, Eugenio Maria, Muntoni, Francesco, Mazzone, Elena S, de Sanctis, Roberto, Pane, Marika (ORCID:0000-0002-4851-6124), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Ramsey, Danielle, Scoto, Mariacristina, Mayhew, Anna, Main, Marion, Mazzone, Elena Stacy, Montes, Jacqueline, De Sanctis, Roberto, Dunaway Young, Sally, Salazar, Rachel, Glanzman, Allan M, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Duong, Tina, Gee, Richard, Civitello, Matthew, Tennekoon, Gihan, Pane, Marika, Pera, Maria Carmela, Bushby, Kate, Day, John, Darras, Basil T, De Vivo, Darryl, Finkel, Richard, Mercuri, Eugenio Maria, Muntoni, Francesco, Mazzone, Elena S, de Sanctis, Roberto, Pane, Marika (ORCID:0000-0002-4851-6124), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)
Abstract: Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are 'fit for purpose'. An international collaboration (SMA REACH UK, Italian SMA Network and PNCRN USA) undertook an iterative process to address discontinuity in the recorded performance of the Hammersmith Functional Motor Scale Expanded and developed a revised functional scale using Rasch analysis, traditional psychometric techniques and the application of clinical sensibility via expert panels. Specifically, we intended to develop a psychometrically and clinically robust functional clinician rated outcome measure to assess physical abilities in weak SMA type 2 through to strong ambulant SMA type 3 patients. The final scale, the Revised Hammersmith Scale (RHS) for SMA, consisting of 36 items and two timed tests, was piloted in 138 patients with type 2 and 3 SMA in an observational cross-sectional multi-centre study across the three national networks. Rasch analysis demonstrated very good fit of all 36 items to the construct of motor performance, good reliability with a high Person Separation Index PSI 0.98, logical and hierarchical scoring in 27/36 items and excellent targeting with minimal ceiling. The RHS differentiated between clinically different groups: SMA type, World Health Organisation (WHO) categories, ambulatory status, and SMA type combined with ambulatory status (all p < 0.001). Construct and concurrent validity was also confirmed with a strong significant positive correlation with the WHO motor milestones r(s) = 0.860, p < 0.001. We conclude that the RHS is a psychometrically sound and versatile clinical outcome assessment to test the broad range of physical abilities of patients with type 2 and 3 SMA. Further longitudinal testing of the scale with regards change in scores over 6 and 12 months are required prior to its adoption in clinical trials.
Published: 2017

26. Revised upper limb module for spinal muscular atrophy: Development of a new module

Author: Mazzone, Elena S, Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Mazzone, Elena S, Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)
Abstract: Introduction: There is a growing need for a robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the available scales lack sensitivity at the extremes of the clinical spectrum. We report the development of the Revised Upper Limb Module (RULM), an assessment specifically designed for upper limb function in SMA patients. Methods: An international panel with specific neuromuscular expertise performed a thorough review of scales currently available to assess upper limb function in SMA. This review facilitated a revision of the existing upper limb function scales to make a more robust clinical scale. Results: Multiple revisions of the scale included statistical analysis and captured clinically relevant changes to fulfill requirements by regulators and advocacy groups. Conclusions: The resulting RULM scale shows good reliability and validity, making it a suitable tool to assess upper extremity function in the SMA population for multi-center clinical research.
Published: 2017

27. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Author: Pera, Maria Carmela, Coratti, Giorgia, Forcina, Nicola, Mazzone, Elena Stacy, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Messina, Sonia, Sframeli, Maria, Main, Marion, Lofra, Robert Muni, Duong, Tina, Ramsey, Danielle, Dunaway, Sally, Salazar, Rachel, Fanelli, Lavinia, Civitello, Matthew, De Sanctis, Roberto, Antonaci, Laura, Lapenta, Leonardo, Lucibello, Simona, Pane, Marika, Day, John, Darras, Basil T., De Vivo, Darryl C., Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio Maria, Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Pera, Maria Carmela, Coratti, Giorgia, Forcina, Nicola, Mazzone, Elena Stacy, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Messina, Sonia, Sframeli, Maria, Main, Marion, Lofra, Robert Muni, Duong, Tina, Ramsey, Danielle, Dunaway, Sally, Salazar, Rachel, Fanelli, Lavinia, Civitello, Matthew, De Sanctis, Roberto, Antonaci, Laura, Lapenta, Leonardo, Lucibello, Simona, Pane, Marika, Day, John, Darras, Basil T., De Vivo, Darryl C., Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio Maria, Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)
Abstract: Background: Reports on the clinical meaningfulness of outcome measures in spinal muscular atrophy (SMA) are rare. In this two-part study, our aim was to explore patients' and caregivers' views on the clinical relevance of the Hammersmith Functional Motor Scale Expanded- (HFMSE). Methods: First, we used focus groups including SMA patients and caregivers to explore their views on the clinical relevance of the individual activities included in the HFMSE. Then we asked caregivers to comment on the clinical relevance of possible changes of HFMSE scores over time. As functional data of individual patients were available, some of the questions were tailored according to their functional level on the HFMSE. Results: Part 1: Sixty-three individuals participated in the focus groups. This included 30 caregivers, 25 patients and 8 professionals who facilitated the discussion. The caregivers provided a comparison to activities of daily living for each of the HFMSE items. Part 2: One hundred and forty-nine caregivers agreed to complete the questionnaire: in response to a general question, 72% of the caregivers would consider taking part in a clinical trial if the treatment was expected to slow down deterioration, 88% if it would stop deterioration and 97% if the treatment was expected to produce an improvement. Caregivers were informed of the first three items that their child could not achieve on the HFMSE. In response 75% indicated a willingness to take part in a clinical trial if they could achieve at least one of these abilities, 89% if they could achieve two, and 100% if they could achieve more than 2. Conclusions: Our findings support the use of the HFMSE as a key outcome measure in SMA clinical trials because the individual items and the detected changes have clear content validity and clinical meaningfulness for patients and their caregivers.
Published: 2017

28. Revised upper limb module for spinal muscular atrophy: Development of a new module

Author: Mazzone, Elena Stacy, Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Dunaway Young, Sally, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Mazzone, Elena Stacy, Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Dunaway Young, Sally, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)
Abstract: N/A
Published: 2016

29. Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Author: Bello, Luca, Bello, Luca, Kesari, Akanchha, Gordish-Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P, Punetha, Jaya, Duong, Tina, Henricson, Erik K, Pegoraro, Elena, McDonald, Craig M, Hoffman, Eric P, Cooperative International Neuromuscular Research Group Investigators, Bello, Luca, Bello, Luca, Kesari, Akanchha, Gordish-Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P, Punetha, Jaya, Duong, Tina, Henricson, Erik K, Pegoraro, Elena, McDonald, Craig M, Hoffman, Eric P, and Cooperative International Neuromuscular Research Group Investigators
Abstract: ObjectiveWe studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.MethodsWe genotyped SPP1 rs28357094 and LTBP4 haplotype in 283 of 340 participants in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). Median ages at LoA were compared by Kaplan-Meier analysis and log-rank test. We controlled polymorphism analyses for concurrent effects of glucocorticoid corticosteroid (GC) treatment (time-varying Cox regression) and for population stratification (multidimensional scaling of genome-wide markers).ResultsHispanic and South Asian participants (n = 18, 41) lost ambulation 2.7 and 2 years earlier than Caucasian subjects (p = 0.003, <0.001). The TG/GG genotype at SPP1 rs28357094 was associated to 1.2-year-earlier median LoA (p = 0.048). This difference was greater (1.9 years, p = 0.038) in GC-treated participants, whereas no difference was observed in untreated subjects. Cox regression confirmed a significant effect of SPP1 genotype in GC-treated participants (hazard ratio = 1.61, p = 0.016). LTBP4 genotype showed a direction of association with age at LoA as previously reported, but it was not statistically significant. After controlling for population stratification, we confirmed a strong effect of LTBP4 genotype in Caucasians (2.4 years, p = 0.024). Median age at LoA with the protective LTBP4 genotype in this cohort was 15.0 years, 16.0 for those who were treated with GC.InterpretationSPP1 rs28357094 acts as a pharmacodynamic biomarker of GC response, and LTBP4 haplotype modifies age at LoA in the CINRG-DNHS cohort. Adjustment for GC treatment and population stratification appears crucial in assessing genetic modifiers in DMD.
Published: 2015

30. Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Author: Bello, Luca, Bello, Luca, Kesari, Akanchha, Gordish-Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P, Punetha, Jaya, Duong, Tina, Henricson, Erik K, Pegoraro, Elena, McDonald, Craig M, Hoffman, Eric P, Cooperative International Neuromuscular Research Group Investigators, Bello, Luca, Bello, Luca, Kesari, Akanchha, Gordish-Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P, Punetha, Jaya, Duong, Tina, Henricson, Erik K, Pegoraro, Elena, McDonald, Craig M, Hoffman, Eric P, and Cooperative International Neuromuscular Research Group Investigators
Abstract: ObjectiveWe studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.MethodsWe genotyped SPP1 rs28357094 and LTBP4 haplotype in 283 of 340 participants in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). Median ages at LoA were compared by Kaplan-Meier analysis and log-rank test. We controlled polymorphism analyses for concurrent effects of glucocorticoid corticosteroid (GC) treatment (time-varying Cox regression) and for population stratification (multidimensional scaling of genome-wide markers).ResultsHispanic and South Asian participants (n = 18, 41) lost ambulation 2.7 and 2 years earlier than Caucasian subjects (p = 0.003, <0.001). The TG/GG genotype at SPP1 rs28357094 was associated to 1.2-year-earlier median LoA (p = 0.048). This difference was greater (1.9 years, p = 0.038) in GC-treated participants, whereas no difference was observed in untreated subjects. Cox regression confirmed a significant effect of SPP1 genotype in GC-treated participants (hazard ratio = 1.61, p = 0.016). LTBP4 genotype showed a direction of association with age at LoA as previously reported, but it was not statistically significant. After controlling for population stratification, we confirmed a strong effect of LTBP4 genotype in Caucasians (2.4 years, p = 0.024). Median age at LoA with the protective LTBP4 genotype in this cohort was 15.0 years, 16.0 for those who were treated with GC.InterpretationSPP1 rs28357094 acts as a pharmacodynamic biomarker of GC response, and LTBP4 haplotype modifies age at LoA in the CINRG-DNHS cohort. Adjustment for GC treatment and population stratification appears crucial in assessing genetic modifiers in DMD.
Published: 2015

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources

Refine your results

30 results on '"Duong, Tina"'

1. Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

2. Development of an International SMA Bulbar Assessment for Inter-professional Administration

3. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

4. Development of an International SMA Bulbar Assessment for Inter-professional Administration

5. The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD.

6. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.

7. Table_2_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docx

8. Table_1_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docx

9. Genetic modifiers of upper limb function in Duchenne muscular dystrophy

10. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

11. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

12. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

13. Improving Care and Empowering Adults Living with SMA:A Call to Action in the New Treatment Era

14. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

15. Improving Care and Empowering Adults Living with SMA:A Call to Action in the New Treatment Era

16. A multinational study on motor function in early-onset FSHD.

17. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

18. Conference report on contractures in musculoskeletal and neurological conditions.

19. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

20. Conference report on contractures in musculoskeletal and neurological conditions

21. Assessment of disease progression in dysferlinopathy. A 1-year cohort study

22. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy

23. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy

24. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy

25. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

26. Revised upper limb module for spinal muscular atrophy: Development of a new module

27. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

28. Revised upper limb module for spinal muscular atrophy: Development of a new module

29. Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

30. Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Catalog

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Publication Year Range

Publication Type

Database

Publisher

30 results on '"Duong, Tina"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources