Organisation of the Registry

The creation of the International Dysferlinopathy Registry is an important step in improving the care and finding treatments for those affected with a dysferlinopathy. The International Dysferlinopathy Registry was launched in March 2013, and is currently available in seven languages (Spanish, English, French, Japanese, German, Italian and Catalan).

This registry 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.

Registration with the International Dysferlinopathy Registry is initiated by the patient, but also requires participation of their medical doctor(s). Patients register online by self-report after giving informed consent.

To initiate their registration, patients are asked to provide some personal details and contact information for doctor(s) involved in the diagnosis and follow-up of their disease, as well as give consent.

While the registry curator then contacts the medical doctor(s) to obtain the genetic and biological data (mutation in dysferlin gene, as well as dysferlin and CPK protein levels) needed to confirm the registration, patients are invited to connect to their personal user account in order to complete an online secure medical questionnaire. This questionnaire consists of 30 easy-to answer questions related to the patient’s diagnosis, disease onset, family history, motor, cardiac and respiratory functions, medical treatment(s) and participation to research studies or clinical trials.

The patient’s registration is validated after the patient has completed his/her medical questionnaire and once the registry curator has confirmed the patient’s eligibility (i.e. at least one pathogenic mutation identified in the dysferlin gene).

organisation_scheme

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 will help 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.