Data Entry Maintenance

Metadata Commons Identifier

HMC000089

Project Title

International Clinical Outcome Study for Dysferlinopathy (Jain COS 1)

Project Description

The Clinical Outcome Study for Dysferlinopathy (COS) is an international, multicenter study of dysferlinopathy (also know as limb-girdle muscular dystrophy type 2B or R2 (LGMD2B or LGMDR2) and Miyoshi Myopathy type 1), evaluating individuals with genetically confirmed dysferlinopathy over 3-5 years.  A cross-sectional analysis of 187 individuals was performed based on their functional ability at baseline. The aims of COS are to determine the clinical outcome measures best suited to evaluate efficacy in future clinical trials, characterize disease progression in dysferlinopathy, and collect biological samples that could be used for the identification of disease markers that could be used to non-invasively monitor the disease or for other research needs.  All these things are needed for effective clinical trials to be performed for dysferlinopathy.  This study recruited genetically confirmed dysferlinopathy patients aged 10 year or older, who were ambulant or non-ambulant, at 15 sites in 8 countries.  The COS protocol included a wide range of medical, physio, laboratory, and MRI analyses. Related metadata: HMC000086

Project Funder(s)

Jain Foundation

Project Institution(s)

University of Padova, Newcastle University, Hospital Sant Pau, Ludwig-Maximilians University, ECRC Charité Campus Buch, Centre de référence des maladies neuromusculaires et de la SLA, Institut de Myologie, Hospital Universitario Virgen del Rocío, Washington University School of Medicine, Research Institute of Nationwide Children's Hospital, Children's National Medical Center, Carolinas Medical Center Neuroscience & Spine Institute, National Center of Neurology and Psychiatry (NCNP), Leland Stanford Junior University Hospital , The Children’s Hospital at Westmead

Keywords

limb-girdle muscular dystrophy 2B, LGMD2b, limb girdle muscular dystrophy type R2, LGMDR2, Miyoshi Myopathy type 1, MMD1, dysferlinopathy

Publication Link

https://www.jain-foundation.org/patients-clinicians/how-to-take-action/clinical-trials-studies-and-surveys/cos2/cos2-study-results/

Study Completed

Cohort Name

Clinical Outcome Study (COS1)

Cohort Size

187

Disease/Condition Studied

dysferlinopathy, autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi Myopathy type 1 (MM1), Autosomal recessive limb-girdle muscular dystrophy type R2 dysferlin related (LGMDR2)

Enrollment Time Window

2012-2014

Biobanking Consent Available

Medical History Available

Ethnicity Availability

Time Course

Patient Phenotypes

ambulant, nonambulant

Patient Outcomes

Clinical Data Types Available

Disease conditions, Dysferlin mutational information, Initial symptoms, Physical exam, Medications, Laboratory results (CK, WBC, Creatine), Exercise, MMT, Myometry, Functional measures (NSAD, PUL, 10M walk, 4 stair climb/descend, TUG, 6MWT), Patient reported outcomes (ACTIVLM, IPAQ, EK scale, quality of life), Cardiac findings (ECG, cardiac echo), Respiratory findings, MRI and MRS analysis (MRI Dixon, MRI T2, MRI T1)

Time Course Data Points

Screening, Baseline, 6 months, 1 year, 2 years, 3 years, 4 years, 5 years

Enrollment City

Groups

Project

Cohort

Enrollment City

Groups

Samples and Omics