Patient Registration

The Jain Foundation patient registry is a secure registry that is free to anyone who wishes to register. However, the ultimate goal of the registry is to identify genetically confirmed dysferlinopathy patients. For those registrants with an incomplete diagnosis, staff at the Jain Foundation will guide them along the process to a definitive diagnosis, including funding dysferlin mutational analysis if this step is warranted.

Because dysferlinopathy is a rare disease, the specific symptoms and disease progression experienced by each patient are important information that will improve our understanding of the disease. Through your participation in this registry, we can determine the true incidence of this disease and highlight its importance to scientists, clinicians and pharmaceutical companies worldwide. We are funding projects that will help with diagnosis efforts around the world (please click here for more information).

When you register, you will have access to the following services:

• General information about LGMD2B/Miyoshi (a.k.a. Dysferlinopathy)
• Advice about diagnostic options, including financial support for dysferlin gene mutation analysis (a $2300 value) for US patients in cases where this diagnostic step is warranted
• Help finding appropriate experts (both scientific and clinical) in your country or area
• Information about ongoing or upcoming clinical trials relevant to your disease
• A source of knowledge about treatment options that are under development

The Jain Foundation’s LGMD2B/Miyoshi Patient Registry began in December of 2006.  Because dysferlinopathy is a very rare disorder (estimate 1-4 patients/million population), a global effort is needed to gather the numbers of patients necessary for future clinical trials.  In order to identify patients worldwide, we developed an online registry questionnaire in different languages and contacted clinicians in various countries.  Through these efforts, the Jain Foundation registry at the end of 2010 had 684 registrants from 21 countries.  The world map below shows the distribution of the Jain Foundation registrants by country.

At registration, most of our registrants did not have a clear diagnosis, but over time, we guided them through a diagnostic path to reach a firm diagnosis at the genetic level. As shown in the pie diagram below, at the end of 2010, of the 684 patients registered with the Jain Foundation, 196 are now diagnosed at the molecular level. 124 have been confirmed with LGMD2B/Miyoshi Myopathy based on the presence of mutations in one or both dysferlin genes; 72 patients suffer from other types of muscular dystrophy; 339 patients have begun the process of obtaining their diagnosis at the molecular level. Unfortunately, 149 individuals or their physicians have not been responsive to our communications. We are exploring different ways to reach them.