Why is this patient registry for dysferlinopathies important?

Dysferlinopathies are very rare diseases affecting only 2-5 people per million. Given this rarity, the difficulty in identifying enough eligible patients can lead to significant delays in scientific studies or clinical trials. A registry ensures that a sufficient number of suitable patients are quickly found.

In addition, the International Dysferlinopathy Registry will provide key details and information needed by physicians and researchers, including the specific genetic defects found in each patient.

The Registry helps identify potential participants for clinical trials and research studies, such as the International Clinical Outcome Study for Dysferlinopathy.
The Registry helps researchers answer questions such as “How common are dysferlinopathies?” or “What are the precise genetic defects in dysferlinopathies?” This in turn helps raise awareness, improve diagnostics and increase research in dysferlinopathies.
The Registry supports other activities to improve patient care, such as the assessment and dissemination of standards of care.