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34 results on '"Kokkinis, Angela"'

1. Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial

Author

Todd, Joshua J., Lawal, Tokunbor A., Chrismer, Irene C., Kokkinis, Angela, Grunseich, Christopher, Jain, Minal S., Waite, Melissa R., Biancavilla, Victoria, Pocock, Shavonne, Brooks, Kia, Mendoza, Christopher J., Norato, Gina, Cheung, Ken, Riekhof, Willa, Varma, Pooja, Colina-Prisco, Claudia, Emile-Backer, Magalie, Meilleur, Katherine G., Marks, Andrew R., Webb, Yael, Marcantonio, Eugene E., Foley, A. Reghan, Bönnemann, Carsten G., and Mohassel, Payam

Published
2024
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2. Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial

Author

Grunseich, Christopher, Miller, Ram, Swan, Therese, Glass, David J, Mouelhi, Mohamed El, Fornaro, Mara, Petricoul, Olivier, Vostiar, Igor, Roubenoff, Ronenn, Meriggioli, Matthew N, Kokkinis, Angela, Guber, Robert D, Budron, Maher S, Vissing, John, Soraru, Gianni, Mozaffar, Tahseen, Ludolph, Albert, Kissel, John T, Fischbeck, Kenneth H, group, BVS857 study, Dahlqvist, Julia, Witting, Nanna, Martinelli, Ilaria, Querin, Giorgia, Goyal, Namita A, Cash, Tiyonnoh M, Minton, Brian, Rosenbohm, Angela, Weiland, Ulrike, Weydt, Patrick, Chelnick, Sharon, Iyadurai, Stanley, and King, Wendy

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Rare Diseases, Clinical Research, Neurosciences, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Musculoskeletal, Adult, Aged, Biomimetics, Bulbo-Spinal Atrophy, X-Linked, Cohort Studies, Dose-Response Relationship, Drug, Double-Blind Method, Female, Humans, Insulin-Like Growth Factor I, International Cooperation, Magnetic Resonance Imaging, Male, Middle Aged, Muscular Atrophy, Treatment Outcome, BVS857 study group, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundSpinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by CAG repeat expansion in the androgen receptor gene. Patients with this disease have low concentrations of insulin-like growth factor-1 (IGF-1), and studies of overexpression and administration of IGF-1 showed benefit in a transgenic model; thus the IGF-1 pathway presents as a potential treatment target. We assessed safety, tolerability, and preliminary efficacy of BVS857, an IGF-1 mimetic, in patients with spinal and bulbar muscular atrophy.MethodsIn this randomised, double-blind, placebo-controlled trial, we recruited patients from neuromuscular centres in Denmark (Copenhagen), Germany (Ulm), Italy (Padova), and three sites within the USA (Bethesda, MD; Irvine, CA; and Columbus, OH). Eligible patients were 18 years or older with a confirmed genetic diagnosis of spinal and bulbar muscular atrophy, were ambulatory, had symptomatic weakness, and had serum IGF-1 concentrations of 170 ng/mL or lower. Patients were randomly assigned (2:1) to study drug or placebo by a number scheme. Patients, investigators, and study personnel were masked to treatment assignment. After a safety and tolerability assessment with eight patients, BVS857 was administered once a week (0·06 mg/kg intravenously) for 12 weeks. Primary outcome measures were safety, tolerability, and the effects of BVS857 on thigh muscle volume (TMV) measured by MRI. The ratio of TMV at day 85 to baseline was analysed with ANCOVA per protocol. Secondary outcomes of muscle strength and function were measured with the Adult Myopathy Assessment Tool, lean body mass through dual energy x-ray absorptiometry, and BVS857 pharmacokinetics. This trial was registered with ClinicalTrials.gov, NCT02024932.Findings31 patients were assessed for eligibility, 27 of whom were randomly assigned to either BVS857 treatment (n=18) or placebo (n=9), and 24 were included in the preliminary efficacy analysis (BVS857 group, n=15; placebo group, n=9). BVS857 was generally safe with no serious adverse events. No significant differences were found in adverse events between the BVS857 and placebo groups. Immunogenicity was detected in 13 (72%) of 18 patients in the BVS857 group, including crossreacting antibodies with neutralising capacity to endogenous IGF-1 in five patients. TMV decreased from baseline to day 85 in the placebo group (-3·4% [-110 cm3]) but not in the BVS857 group (0% [2 cm3]). A significant difference in change in TMV was observed in the BVS857 group versus the placebo group (geometric-mean ratio 1·04 [90% CI 1·01-1·07]; p=0·02). There were no differences between groups in measures of muscle strength and function.InterpretationTMV remained stable in patients with spinal and bulbar muscular atrophy after being given BVS857 for 12 weeks. The intervention was associated with high incidence of immunogenicity and did not improve muscle strength or function. Additional studies might be needed to assess the efficacy of activating the IGF-1 pathway in this disease.FundingNovartis Pharmaceuticals and the US National Institutes of Health.

Published
2018

7. Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Author

Jain, Minal S., Meilleur, Katherine, Kim, Eunhee, Norato, Gina, Waite, Melissa, Nelson, Leslie, McGuire, Michelle, Duong, Tina, Keller, Katherine, Lott, Donovan J., Glanzman, Allan, Rose, Kristy, Main, Marion, Fiorini, Courtney, Chrismer, Irene, Linton, Melody, Punjabi, Monal, Elliott, Jeffrey, Tounkara, Fatoumata, Vasavada, Ruhi, Logaraj, Ranjani, Winkert, Jocelyn, Donkervoort, Sandra, Leach, Meganne, Dastgir, Jahannaz, Hynan, Linda, Nichols, Carmel, Hartnett, Elizabeth, Averion, Gilberto M., Collins, James C., Kim, Eunice S., Kokkinis, Angela, Schindler, Alice, Zukosky, Kristen, Fee, Robert, Hinton, Veronica, Mohassel, Payam, Bharucha-Goebel, Diana, Vuillerot, Carole, McGraw, Peter, Barton, Mark, Fontana, Joseph, Rutkowski, Anne, Foley, A. Reghan, and Bönnemann, Carsten G.

Published
2019
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9. Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

Author

Sangare, Modibo, Dicko, Ilo, Guinto, Cheick Oumar, Sissoko, Adama, Dembele, Kekouta, Coulibaly, Youlouza, Coulibaly, Siaka Y., Landoure, Guida, Diallo, Abdallah, Dolo, Mamadou, Dolo, Housseini, Maiga, Boubacar, Traore, Moussa, Karembe, Mamadou, Traore, Kadiatou, Toure, Amadou, Sylla, Mariam, Togora, Arouna, Coulibaly, Souleymane, Traore, Sékou Fantamady, Hendrickson, Brant, Bricceno, Katherine, Schindler, Alice B., Kokkinis, Angela, Meilleur, Katherine G., Sangho, Hammadoun Ali, Diakite, Brehima, Kassogue, Yaya, Coulibaly, Yaya Ibrahim, Burnett, Barrington, Maiga, Youssoufa, Doumbia, Seydou, and Fischbeck, Kenneth H.

Published
2016
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12. Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Author

Meilleur, Katherine G., Jain, Minal S., Hynan, Linda S., Shieh, Ching-Yi, Kim, Eunice, Waite, Melissa, McGuire, Michelle, Fiorini, Courtney, Glanzman, Allan M., Main, Marion, Rose, Kristy, Duong, Tina, Bendixen, Roxanna, Linton, Melody M., Arveson, Irene C., Nichols, Carmel, Yang, Kelly, Fischbeck, Kenneth H., Wagner, Kathryn R., North, Kathryn, Mankodi, Ami, Grunseich, Christopher, Hartnett, Elizabeth J., Smith, Michaele, Donkervoort, Sandra, Schindler, Alice, Kokkinis, Angela, Leach, Meganne, Foley, A. Reghan, Collins, James, Muntoni, Francesco, Rutkowski, Anne, and Bönnemann, Carsten G.

Published
2015
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18. Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn

Author

Shrader, Joseph A., primary, Sansare, Ashwini, additional, Shieh, Vincent, additional, Woolstenhulme, Joshua G., additional, Rekant, Julie, additional, Jiménez-Silva, Rafael, additional, Joe, Galen O., additional, Kokkinis, Angela, additional, Fischbeck, Kenneth H., additional, Grunseich, Christopher, additional, and Zampieri, Cristiane, additional

Published
2021
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19. α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease

Author

Isonaka, Risa, primary, Goldstein, David S., additional, Zhu, William, additional, Yoon, Esther, additional, Ehrlich, Debra, additional, Schindler, Alice B., additional, Kokkinis, Angela D., additional, Sabir, Marya S., additional, Scholz, Sonja W., additional, Bandres‐Ciga, Sara, additional, Blauwendraat, Cornelis, additional, Gonzalez‐Alegre, Pedro, additional, Lopez, Grisel, additional, Sidransky, Ellen, additional, and Narendra, Derek P., additional

Published
2021
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20. α-Synuclein in Sympathetic Nerve Fibers Distinguishes among Genetic Forms of Parkinson’s Disease (4401)

Author

Isonaka, Risa, primary, Goldstein, David, additional, Zhu, William, additional, Yoon, Esther, additional, Ehrlich, Debra, additional, Schindler, Alice, additional, Kokkinis, Angela, additional, Ciga, Sara, additional, Blauwendraat, Cornelis, additional, Gonzalez-Alegre, Pedro, additional, Lopez, Grisel, additional, Sidransky, Ellen, additional, and Narendra, Derek, additional

Published
2021
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21. Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy:a randomised, placebo-controlled trial

Author

Grunseich, Christopher, Miller, Ram, Swan, Therese, Glass, David J., El Mouelhi, Mohamed, Fornaro, Mara, Petricoul, Olivier, Vostiar, Igor, Roubenoff, Ronenn, Meriggioli, Matthew N., Kokkinis, Angela, Guber, Robert D., Budron, Maher S., Vissing, John, Soraru, Gianni, Mozaffar, Tahseen, Ludolph, Albert, Kissel, John T., Fischbeck, Kenneth H., Mouelhi, Mohamed El, Dahlqvist, Julia, Witting, Nanna, Martinelli, Ilaria, Querin, Giorgia, Goyal, Namita A., Cash, Tiyonnoh M., Minton, Brian, Rosenbohm, Angela, Weiland, Ulrike, Weydt, Patrick, Chelnick, Sharon, Iyadurai, Stanley, King, Wendy, Grunseich, Christopher, Miller, Ram, Swan, Therese, Glass, David J., El Mouelhi, Mohamed, Fornaro, Mara, Petricoul, Olivier, Vostiar, Igor, Roubenoff, Ronenn, Meriggioli, Matthew N., Kokkinis, Angela, Guber, Robert D., Budron, Maher S., Vissing, John, Soraru, Gianni, Mozaffar, Tahseen, Ludolph, Albert, Kissel, John T., Fischbeck, Kenneth H., Mouelhi, Mohamed El, Dahlqvist, Julia, Witting, Nanna, Martinelli, Ilaria, Querin, Giorgia, Goyal, Namita A., Cash, Tiyonnoh M., Minton, Brian, Rosenbohm, Angela, Weiland, Ulrike, Weydt, Patrick, Chelnick, Sharon, Iyadurai, Stanley, and King, Wendy

Abstract

Background: Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by CAG repeat expansion in the androgen receptor gene. Patients with this disease have low concentrations of insulin-like growth factor-1 (IGF-1), and studies of overexpression and administration of IGF-1 showed benefit in a transgenic model; thus the IGF-1 pathway presents as a potential treatment target. We assessed safety, tolerability, and preliminary efficacy of BVS857, an IGF-1 mimetic, in patients with spinal and bulbar muscular atrophy. Methods: In this randomised, double-blind, placebo-controlled trial, we recruited patients from neuromuscular centres in Denmark (Copenhagen), Germany (Ulm), Italy (Padova), and three sites within the USA (Bethesda, MD; Irvine, CA; and Columbus, OH). Eligible patients were 18 years or older with a confirmed genetic diagnosis of spinal and bulbar muscular atrophy, were ambulatory, had symptomatic weakness, and had serum IGF-1 concentrations of 170 ng/mL or lower. Patients were randomly assigned (2:1) to study drug or placebo by a number scheme. Patients, investigators, and study personnel were masked to treatment assignment. After a safety and tolerability assessment with eight patients, BVS857 was administered once a week (0·06 mg/kg intravenously) for 12 weeks. Primary outcome measures were safety, tolerability, and the effects of BVS857 on thigh muscle volume (TMV) measured by MRI. The ratio of TMV at day 85 to baseline was analysed with ANCOVA per protocol. Secondary outcomes of muscle strength and function were measured with the Adult Myopathy Assessment Tool, lean body mass through dual energy x-ray absorptiometry, and BVS857 pharmacokinetics. This trial was registered with ClinicalTrials.gov, NCT02024932. Findings: 31 patients were assessed for eligibility, 27 of whom were randomly assigned to either BVS857 treatment (n=18) or placebo (n=9), and 24 were included in the preliminary efficacy analysis (BVS857 group, n=15; placebo

Published
2018

24. Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy

Author

Meilleur, Katherine G., primary, Linton, Melody M., additional, Fontana, Joseph, additional, Rutkowski, Anne, additional, Elliott, Jeffrey, additional, Barton, Mark, additional, McGraw, Peter, additional, Kokkinis, Angela, additional, Donkervoort, Sandra, additional, Leach, Meganne, additional, Jain, Minal, additional, Dastgir, Jahannaz, additional, Collins, James, additional, Szczesniak, Rhonda, additional, Yang, Kelly, additional, Sawnani, Hemant, additional, and Bönnemann, Carsten G., additional

Published
2017
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25. Sexual Reassignment Fails to Prevent Kennedy’s Disease

Author

Lanman, Tyler A., primary, Bakar, Dara, additional, Badders, Nisha M., additional, Burke, Ailbhe, additional, Kokkinis, Angela, additional, Shrader, Joseph A., additional, Joe, Galen O., additional, Schindler, Alice B., additional, Bott, Laura C., additional, Harmison, George G., additional, Taylor, J. Paul, additional, Fischbeck, Kenneth H., additional, and Grunseich, Christopher, additional

Published
2016
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26. A randomized controlled trial of exercise in spinal and bulbar muscular atrophy

Author

Shrader, Joseph A., primary, Kats, Ilona, additional, Kokkinis, Angela, additional, Zampieri, Cris, additional, Levy, Ellen, additional, Joe, Galen O., additional, Woolstenhulme, Joshua G., additional, Drinkard, Bart E., additional, Smith, Michaele R., additional, Ching, Willie, additional, Ghosh, Laboni, additional, Fox, Derrick, additional, Auh, Sungyoung, additional, Schindler, Alice B., additional, Fischbeck, Kenneth H., additional, and Grunseich, Christopher, additional

Published
2015
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29. A Randomized Study of Exercise in Spinal and Bulbar Muscular Atrophy (P7.046)

Author

Grunseich, Christopher, primary, Kats, Ilona, additional, Bakar, Dara, additional, Kokkinis, Angela, additional, Levy, Ellen, additional, Smith, Michaele, additional, Shrader, Joseph, additional, Joe, Galen, additional, Woolstenhulme, Joshua, additional, Ching, Willie, additional, Drinkard, Bart, additional, Zampieri, Cris, additional, Ghosh, Laboni, additional, Fox, Derrick, additional, Lanman, Tyler, additional, Auh, Sungyoung, additional, Schindler, Alice, additional, and Fischbeck, Kenneth, additional

Published
2015
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30. Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Author

Grunseich, Christopher, primary, Kats, Ilona R., additional, Bott, Laura C., additional, Rinaldi, Carlo, additional, Kokkinis, Angela, additional, Fox, Derrick, additional, Chen, Ke-lian, additional, Schindler, Alice B., additional, Mankodi, Ami K., additional, Shrader, Joseph A., additional, Schwartz, Daniel P., additional, Lehky, Tanya J., additional, Liu, Chia-Ying, additional, and Fischbeck, Kenneth H., additional

Published
2014
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32. Protein biomarker signature in patients with spinal and bulbar muscular atrophy.

Author

Tebbenkamp AT, Huggett SB, Lombardi V, Zampedri L, AlQahtani A, Kokkinis A, Malaspina A, Rinaldi C, Grunseich C, Fratta P, and Viglietta V

Subjects
Humans, Animals, Mice, Male, Female, Middle Aged, Disease Models, Animal, Muscle, Skeletal metabolism, Adult, Case-Control Studies, Aged, GPI-Linked Proteins blood, GPI-Linked Proteins genetics, GPI-Linked Proteins metabolism, Biomarkers blood, Biomarkers metabolism
Abstract

Spinal and bulbar muscular atrophy (SBMA) is a slowly progressing disease with limited sensitive biomarkers that support clinical research. We analyzed plasma and serum samples from patients with SBMA and matched healthy controls in multiple cohorts, identifying 40 highly reproducible SBMA-associated proteins out of nearly 3,000 measured. These proteins were robustly enriched in gene sets of skeletal muscle expression and processes related to mitochondria and calcium signaling. Many proteins outperformed currently used clinical laboratory tests (e.g., creatine kinase [CK]) in distinguishing patients from controls and in their correlations with clinical and functional traits in patients. Two of the 40 proteins, Ectodysplasin A2 receptor (EDA2R) and Repulsive guidance molecule A (RGMA), were found to be associated with decreased survival and body weight in a mouse model of SBMA. In summary, we identified what we believe to be a robust and novel set of fluid protein biomarkers in SBMA that are linked with relevant disease features in patients and in a mouse model of disease. Changes in these SBMA-associated proteins could be used as an early predictor of treatment effects in clinical trials.

Published
2024
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33. SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT.

Author

Shieh V, Zampieri C, Stout P, Joe GO, Kokkinis A, Fischbeck KH, Grunseich C, and Shrader JA

Abstract

Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative results, although authors suggest that patients with spinal and bulbar muscular atrophy may benefit from both increased exercise intensity and shorter bout duration. The aim of this case report is to explore the safety of a moderate intensity strength training programme coupled with dynamic balance and function-specific training in a patient with spinal and bulbar muscular atrophy., Case Report: A 56-year-old man with spinal and bulbar muscular atrophy presented with multiple falls and declining performance in physical, vocational, and recreational activities. Examination revealed several musculoskeletal impairments that were sub-clinical to mild compared with an SBMA natural history cohort., Intervention and Outcome: A 15-week moderate intensity exercise programme combining weight-lifting and functional exercises was performed under clinical supervision. Exercise volume, frequency and intensity were adjusted based on patient-reported outcomes and muscle damage blood markers. Performance-based and self-reported functional improvements occurred that exceeded the minimal clinically important difference. The intervention was well tolerated and the patient nearly doubled his baseline 10-repetition maximums for weight-lifting exercises., Conclusion: Exercise therapy combining weight-lifting and upright functional training led to meaningful performance improvements in this case of a patient with spinal and bulbar muscular atrophy and relatively low disease burden., Competing Interests: The authors have no conflicts of interest to declare., (© Published by Medical Journals Sweden, on behalf of the Foundation for Rehabilitation Information.)

Published
2022
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34. Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy.

Author

Compo J, Joseph J, Shieh V, Kokkinis AD, Acevedo A, Fischbeck KH, Grunseich C, and Shrader JA

Abstract

Introduction: Spinal and bulbar muscular atrophy is a progressive neuromuscular disease that leads to muscle weakness and reduced physical function. Benefits of physical therapy for people with spinal and bulbar muscular atrophy have not been reported in the literature., Case Report: A 62-year-old male patient with spinal and bulbar muscular atrophy reported falling, difficulty walking and completing upright tasks, and showed clinical signs of low baseline function on examination. Transportation challenges made it difficult for this patient to attend frequent one-on-one physical therapy sessions., Interventions and Outcomes: A minimally supervised home-based exercise intervention was chosen with the goal of safely improving his functional capacity. The 5-visit clinical intervention, spread over 10 months, provided 3 exercise modules: seated-to-standing postural alignment and core muscle activation; upright functional and endurance training; and balance training and rhythmic walking. Post-intervention the patient had increased lower extremity muscle strength, improved balance, and reduced self-reported fatigue., Conclusion: Home-based exercises were well tolerated with no increase in creatine kinase. Multiple clinical measures of strength and function improved, possibly related to the patients' excellent motivation and compliance with the programme. Promising utilization of a minimally supervised home-based programme is described here., Competing Interests: The authors have no conflicts of interest to declare., (Journal Compilation © 2020 Foundation of Rehabilitation Information.)

Published
2020
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