Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational
Official Title: International Clinical Outcome Study for Dysferlinopathy
Brief Summary:
The "Clinical Outcome Study for Dysferlinopathy" is being performed in centres in Europe (UK- Newcastle; Spain- Barcelona, Sevilla; Germany- Berlin, Munich; Italy- Padova; France- Paris, Marseille), USA (Charlotte, NC; Columbus, OH; Washington, DC; St.Louis, MO, Stanford CA), Japan (Tokyo) and Australia (Sydney). Oversight and funding for this study is being provided by the Jain Foundation, a non-profit foundation dedicated to finding therapies for dysferlinopathies(LGMD2b/Miyoshi). The aim of this "Clinical Outcome Study" is to determine the clinical outcome measures required for future clinical trials, characterize the disease progression of dysferlinopathy and collect biological samples for the identification of disease markers that are needed to non-invasively monitor the disease during clinical trials. Without this information, effective clinical trials cannot be performed.
This study is recruiting a large number of genetically confirmed dysferlinopathy patients aged 10 years or older, who are ambulant or non-ambulant. Participants will be assessed at 6 visits over 3 years via medical, physiotherapy, and MRI/MRS assessments, as well as standard blood tests. Optionally, the participants can donate blood samples and a skin sample for use in the identification of disease markers and other approved research.