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Your search keyword '"Day, John"' showing total 13 results
Start Over Author "Day, John" Journal journal of neuromuscular diseases
13 results on '"Day, John"'

1. Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

Author

Servais, Laurent, primary, Day, John W., additional, De Vivo, Darryl C., additional, Kirschner, Janbernd, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Proud, Crystal M., additional, Shieh, Perry B., additional, Tizzano, Eduardo F., additional, Quijano-Roy, Susana, additional, Desguerre, Isabelle, additional, Saito, Kayoko, additional, Faulkner, Eric, additional, Benguerba, Kamal M., additional, Raju, Dheeraj, additional, LaMarca, Nicole, additional, Sun, Rui, additional, Anderson, Frederick A., additional, and Finkel, Richard S., additional

Published
2024
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2. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

Author

Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O’Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A., D’Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena, Main, Marion, Montes, Jacqueline, Glanzman, Allan M., Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Marini-Bettolo, Chiara, Day, John W., Darras, Basil T., De Vivo, Darryl C., Baranello, Giovanni, Scoto, Mariacristina, Finkel, Richard S., Mercuri, Eugenio, and Muntoni, Francesco

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS). In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019). We contextualise these trajectories using both the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). At baseline, this cohort included 50% females and 15% of patients had undergone spinal fusion surgery. Patient trajectories were modelled using a natural cubic spline with age, sex, and random effects for each patient. RHS and HFMSE scores show similar trends over time in this cohort not receiving disease modifying therapies. The results confirm the strong correlation between the RHS and RULM previously observed in SMA types 2 and 3a. Scoliosis surgery is associated with a reduction of 3 points in the RHS, 4.5 points in the HFMSE for the SMA 2 population, and a reduction of 11.8 points in the RHS, and 13.4 points in the HFMSE for the SMA 3a populations. When comparing the RHS and RULM, there is a lower correlation in the type 3a’s than the type 2 patients. In the SMA 2 population, there is no significant difference between the sexes in either the RHS or HFMSE trajectories. There is no significant difference in the RULM trajectory in the SMA 2 or 3a participants by sex. This study demonstrates that the RHS could be used in conjunction with other functional measures such as the RULM to holistically detect SMA disease progression. This will assist with fully understanding changes that occur with treatments, further defining trajectories and therapy outcomes.

Published
2024
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3. Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

Author

Finkel, Richard S., primary, Darras, Basil T., additional, Mendell, Jerry R., additional, Day, John W., additional, Kuntz, Nancy L., additional, Connolly, Anne M., additional, Zaidman, Craig M., additional, Crawford, Thomas O., additional, Butterfield, Russell J., additional, Shieh, Perry B., additional, Tennekoon, Gihan, additional, Brandsema, John F., additional, Iannaccone, Susan T., additional, Shoffner, John, additional, Kavanagh, Sarah, additional, Macek, Thomas A., additional, and Tauscher-Wisniewski, Sitra, additional

Published
2023
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5. Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

Author

Dunaway Young, Sally, primary, Pasternak, Amy, additional, Duong, Tina, additional, McGrattan, Katlyn E., additional, Stranberg, Sarah, additional, Maczek, Elizabeth, additional, Dias, Courtney, additional, Tang, Whitney, additional, Parker, Dana, additional, Levine, Alexis, additional, Rohan, Alyssa, additional, Wolford, Connie, additional, Martens, William, additional, McDermott, Michael P., additional, Darras, Basil T., additional, and Day, John W., additional

Published
2023
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6. Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

Author

Young, Sally Dunaway, Pasternak, Amy, Duong, Tina, McGrattan, Katlyn E., Stranberg, Sarah, Maczek, Elizabeth, Dias, Courtney, Tang, Whitney, Parker, Dana, Levine, Alexis, Rohan, Alyssa, Wolford, Connie, Martens, William, McDermott, Michael P., Darras, Basil T., and Day, John W.

Abstract

Novel Spinal Muscular Atrophy (SMA) treatments have demonstrated improvements on motor measures that are clearly distinct from the natural history of progressive decline. Comparable measures are needed to monitor bulbar function, which is affected in severe SMA. To assess bulbar function with patient-reported outcome measures (PROs) and determine their relationships with clinical characteristics. We recruited 47 non-ambulatory participants (mean (SD) age = 29.8 (13.7) years, range = 10.3–73.2) with SMA. PROs including Voice Handicap Index (VHI) and Eating Assessment Tool-10 (EAT-10) were collected alongside clinical characteristics and standardized motor assessments. Associations were assessed using Spearman correlation coefficients and group comparisons were performed using Wilcoxon rank sum tests. A majority of the 47 participants were SMA type 2 (70.2%), non-sitters (78.7%), 3 copies of SMN2(77.5%), and using respiratory support (66.0%). A majority (94%) reported voice issues primarily in 8/30 VHI questions. Problems included: difficulty understanding me in a noisy room (87.2%); difficult for people to hear me (74.5%); and people ask me to repeat when speaking face-to-face (72.3%). A majority (85.1%) reported swallowing issues primarily in 3/10 EAT-10 questions: swallowing pills (68.1%); food sticks to my throat (66.0%); and swallowing solids (61.7%). The two PROs were moderately associated (rs = 0.66). Weaker individuals with SMA experience bulbar problems including difficulties with voice and swallowing. Further refinement and assessment of functional bulbar scales will help determine their relevance and responsiveness to changes in SMA. Additional study is needed to quantify bulbar changes caused by SMA and their response to disease-modifying treatments.

Published
2023
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8. RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

Author

Finkel, Richard S., primary, Day, John W., additional, De Vivo, Darryl C., additional, Kirschner, Janbernd, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Shieh, Perry B., additional, Tizzano, Eduardo, additional, Desguerre, Isabelle, additional, Quijano-Roy, Susana, additional, Saito, Kayoko, additional, Droege, Marcus, additional, Dabbous, Omar, additional, Khan, Farid, additional, Renault, Lydie, additional, Anderson, Frederick A., additional, and Servais, Laurent, additional

Published
2020
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9. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Author

Glascock, Jacqueline, primary, Sampson, Jacinda, additional, Connolly, Anne M., additional, Darras, Basil T., additional, Day, John W., additional, Finkel, Richard, additional, Howell, R. Rodney, additional, Klinger, Katherine W., additional, Kuntz, Nancy, additional, Prior, Thomas, additional, Shieh, Perry B., additional, Crawford, Thomas O., additional, Kerr, Douglas, additional, and Jarecki, Jill, additional

Published
2020
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11. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

Author

Glascock, Jacqueline, primary, Sampson, Jacinda, additional, Haidet-Phillips, Amanda, additional, Connolly, Anne, additional, Darras, Basil, additional, Day, John, additional, Finkel, Richard, additional, Howell, R. Rodney, additional, Klinger, Katherine, additional, Kuntz, Nancy, additional, Prior, Thomas, additional, Shieh, Perry B., additional, Crawford, Thomas O., additional, Kerr, Douglas, additional, and Jarecki, Jill, additional

Published
2018
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12. Evaluator Training and Reliability for SMA Global Nusinersen Trials1

Author

Glanzman, Allan M., primary, Mazzone, Elena S., additional, Young, Sally Dunaway, additional, Gee, Richard, additional, Rose, Kristy, additional, Mayhew, Anna, additional, Nelson, Leslie, additional, Yun, Chris, additional, Alexander, Katie, additional, Darras, Basil T., additional, Zolkipli-Cunningham, Zarazuela, additional, Tennekoon, Gihan, additional, Day, John W., additional, Finkel, Richard S., additional, Mercuri, Eugenio, additional, De Vivo, Darryl C., additional, Baldwin, Ron, additional, Bishop, Kathie M., additional, and Montes, Jacqueline, additional

Published
2018
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13. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Author

Tao, Feifei, Beecham, Gary W., Rebelo, Adriana P., Blanton, Susan H., Moran, John J., Lopez-Anido, Camila, Svaren, John, Abreu, Lisa, Rizzo, Devon, Kirk, Callyn A., Wu, Xingyao, Feely, Shawna, Verhamme, Camiel, Saporta, Mario A., Herrmann, David N., Day, John W., Sumner, Charlotte J., Lloyd, Thomas E., Li, Jun, Yum, Sabrina W., Taroni, Franco, Baas, Frank, Choi, Byung-Ok, Pareyson, Davide, Scherer, Steven S., Reilly, Mary M., Shy, Michael E., and Züchner, Stephan

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a uniform 1.5–Mb duplication on chromosome 17p, which includes the PMP22gene. Patients often present the classic neuropathy phenotype, but also with high clinical variability. We aimed to identify genetic variants that are potentially associated with specific clinical outcomes in CMT1A. We genotyped over 600,000 genomic markers using DNA samples from 971 CMT1A patients and performed a case-only genome-wide association study (GWAS) to identify potential genetic association in a subset of 644 individuals of European ancestry. A total of 14 clinical outcomes were analyzed in this study. The analyses yielded suggestive association signals in four clinical outcomes: difficulty with eating utensils (lead SNP rs4713376, chr6 : 30773314, P = 9.91×10–7, odds ratio = 3.288), hearing loss (lead SNP rs7720606, chr5 : 126551732, P = 2.08×10–7, odds ratio = 3.439), decreased ability to feel (lead SNP rs17629990, chr4 : 171224046, P = 1.63×10–7, odds ratio = 0.336), and CMT neuropathy score (lead SNP rs12137595, chr1 : 4094068, P = 1.14×10–7, beta = 3.014). While the results require validation in future genetic and functional studies, the detected association signals may point to novel genetic modifiers in CMT1A.

Published
2019
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