International Clinical Outcome Study for Dysferlinopathy
The Clinical Outcome Study for Dysferlinopathy is being performed in centres in Europe (UK- Newcastle; Spain- Barcelona, Sevilla; San Sebastian;Denmark, Copenhagen, Italy- Padova; France- Paris,), USA (Charlotte, NC; Columbus, OH; St.Louis, MO, Stanford CA, Irvine CA and Columbia NY), Chile (Santiago) Japan (Tokyo) and South Korea (Pusan). Oversight is provided by Newcastle upon Tyne Hospitals Trust. 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. The study has reopened for a further two years (COS2). Participants will be assessed at 4 further visits over 2 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. There is a sub-study running in MRI at selected sites.
• Confirmed diagnosis of dysferlinopathy proven by a) two (predicted) pathogenic dysferlin mutations, b) one (predicted) pathogenic dysferlin mutation and absent dysferlin protein on muscle immunoblot, or c) one (predicted) pathogenic dysferlin mutation and dysferlin protein level ≤20% of normal level determined by blood monocyte testing. Mutations will be checked for pathogenicity via the UMD bioinformatics tools and and by checking the literature and mutation /variant databases.
⁃ NOTE: Contact Sarah Shira at the Jain Foundation for help with diagnosis at +1 425 882 1492
⁃ Ambulant with or without aids; or full-time wheelchair user, i.e. non-ambulant; with the ratio 2:1 between recruited ambulant and recruited non-ambulant patients.
⁃ All ages ≥ 10 years of age.
⁃ Ability to perform assessments (there will be different assessments for ambulant and non-ambulant patients).
⁃ Ability to attend scheduled investigations.
⁃ Informed consent to participate in the clinical outcome study.
⁃ NOTE: Funds are available to cover necessary hotel stays and travel costs to the study centres for the participant and a helper (if needed).