Letter from Jain Foundation's Co-President, Laura Rufibach

Dear Patients,

On the following page is a list of ongoing clinical studies that are relevant to LGMD2B/Miyoshi/Dysferlinopathy. We try to keep this list updated. You will notice that while a few studies are recruiting patients suffering from LGMD2B/Miyoshi/ Dysferlinopathy, most are directed towards other forms of muscular dystrophy (for example – Duchenne muscular dystrophy - DMD). It is also important to understand that not all clinical studies are designed to test a potential treatment. Some studies are being done to study clinical aspects of the disease and are very important. Regardless of the disease being studied or the reason for the studies, the information gained from all of these studies directly impacts the progress towards a treatment trial for LGMD2B/Miyoshi/Dysferlinopathy.

The goal of the Jain Foundation is to expedite and plan for clinical studies for LGMD2B/Miyoshi/Dysferlinopathy today so that we can initiate these as soon as possible.

There are two essential steps in preparing for LGMD2B/Miyoshi/Dysferlinopathy specific studies:

  1. Conduct all background experiments in animal models to identify therapeutic approaches and test their safety.
  2. Identify patients with dysferlin mutations so that therapeutic approach can be tested in patients confirmed for dysferlinopathy.

Rest assured that we are doing what we can to further the first step. In addition to funding scientific research projects related to the trials below, we are also funding research that will lead us to other strategies to combat dysferlinopathy.

The second step we cannot do without your help. LGMD2B/Miyoshi is a very rare disease, so finding enough patients with appropriate dysferlin mutations within this small group is impossible without your help. You can help by doing the following:

  • Register with the Jain Foundation patient registry. This will help us confirm your diagnosis and contact you when relevant clinical trials are available. Please register by clicking here.
  • Confirm your diagnosis by identifying your dysferlin gene mutations. The identification of dysferlin mutations is the only way to definitively confirm your LGMD2B/Miyoshi diagnosis and will be required for inclusion in most clinical trials. The Jain Foundation can help you obtain dysferlin mutational analysis (for more information click here).
  • Tell everyone you know with LGMD2B/Miyoshi about the Jain Foundation.

Let's work together to find a cure for this disease.

Laura Rufibach
Co-President, Jain Foundation Inc.