The Dysferlin Registry
The Dysferlin Registry is an opportunity for patients with LGMD2B, Miyoshi Myopathy and other clinical forms of dysferlinopathies to help accelerate research, participate in research studies or clinical trials and obtain the best possible care.
This registry is currently available in seven languages (Spanish, English, French, Japanese, German, Italian and Catalan) and is open to all patients worldwide affected with a dysferlinopathy, including the most frequent clinical presentations – namely Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy – as well as all other clinical presentations related to mutations in the dysferlin gene.
Patients register online by self-report, giving informed consent. They are asked to provide some personal details and key medical data about their disease. Mutational and biological data (dysferlin and CPK protein levels) are provided by the patients’ doctors, upon patient and doctor consent.
Patients are eligible to register if their clinical dysferlinopathy diagnosis has been confirmed by a genetic test with at least one pathogenic mutation identified in the dysferlin gene. If a patient does not yet have a clinical diagnosis of dysferlinopathy or not yet a genetic confirmation of the disease, the registry website provides a list of laboratories offering tests for the clinical diagnosis of dysferlinopathies, as well as a list of laboratories performing dysferlin genetic testing. The Jain Foundation also provides guidance to patients who are unsure about their diagnosis (contact Sarah Emmons, Director of Global Patient Outreach and Community Strategies at +1 425-882-1440 or firstname.lastname@example.org).
Members of the International Dysferlinopathy Registry will receive information relevant to their condition, such as whether they might be suitable for certain clinical trials or research studies, as well as about better ways of caring for patients with a dysferlinopathy once those ways are identified. Data collected in this registry will help researchers to be better equipped for finding therapies for this disease, to understand how many people worldwide are affected by this rare condition and what the precise genetic defects are, and to support other activities to improve patient care, such as assessment and dissemination of standards of care. In addition, third parties can request anonymised medical data from the registry and – subject to approval – use the obtained information for research, study/trial feasibility or planning, or patient recruitment into clinical studies/trials.