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The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Elizabeth Harris1, Catherine L Bladen1, Anna Mayhew1
1The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital
Dysferlinopathy presents with highly variable symptoms and progression, regardless of genetic factors. Increased awareness is reducing diagnostic delays for this rare neuromuscular disorder.
Area of Science:
- Neuromuscular Disorders
- Genetics and Molecular Biology
- Clinical Research
Background:
- Dysferlinopathy encompasses a group of rare genetic muscle disorders.
- Characterizing patient heterogeneity is essential for effective management and therapeutic development.
Purpose of the Study:
- To detail the baseline clinical and functional features of an international dysferlinopathy cohort.
- To identify factors influencing disease variability and progression.
Main Methods:
- Cross-sectional analysis of 193 patients from the international Clinical Outcome Study for dysferlinopathy (COS).
- Inclusion of genetically confirmed dysferlinopathy cases.
- Baseline clinical and functional assessments.
Main Results:
- Significant variability observed in disease onset, weakness patterns, and progression rates.
- No specific genetic or clinical factor fully explained the observed heterogeneity.
- Minority of patients experienced respiratory or cardiac issues.
- Diagnostic delays are decreasing, indicating improved awareness.
Conclusions:
- Findings underscore the need for tailored clinical care and optimized trial designs for dysferlinopathy.
- The ongoing longitudinal COS study will further elucidate disease progression patterns.
- This research provides a foundation for future therapeutic interventions and clinical trial strategies.
