International Dysferlinopathy Registry

Information

The International Dysferlinopathy Registry provides an opportunity for patients with LGMD2B, Miyoshi Myopathy and other clinical presentations of dysferlinopathies to participate in research studies or clinical trials and obtain the best possible care.

What are dysferlinopathies?

Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by the loss of functional dysferlin protein due to mutations in the dysferlin gene. Dysferlinopathies are characterised by progressive muscle wasting and are clinically divided into four main types:

  • Limb-Girdle Muscular Dystrophy type 2B (LGMD2B)
  • Miyoshi Myopathy
  • Distal Myopathy with Anterior Tibial onset (DMAT)
  • Proximodistal weakness.

 

Why is this patient registry for dysferlinopathies important?

Dysferlinopathies are very rare diseases affecting only 5-8 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:          http://www.dysferlinregistry.org/DYSFL2_1/ENhttps://www.jain-foundation.org/dysferlinoutcomestudy.
  • 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.
Registry LocationInternational - available to Australians
Registry ParticipationVoluntary
Registry Contact

E: patients@jain-foundation.org

Adding New Patients to Registry

How do I join the register

To join the Dysferlin Registry, patients must have a confirmed diagnosis of dysferlinopathy. The Jain Foundation can help confirm a patient’s diagnosis through genetic testing. Patients and clinicians can contact the Foundation for assistance with diagnostic resources and joining the Registry once a diagnosis is confirmed.

Can clinicians enter patients into the register?

Yes, approved clinicians can apply to enter their LGMD2B/MMD1 patients into the Dysferlin Registry. Interested clinicians should contact the Jain Foundation to request this option.

Please see the website for more information

dysferlinregistry.jain-foundation.org

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