Registry Seeks Participants with Congenital Muscle Disorders

An international patientregistry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.

The term "congenital" means present at birth. However, some of the diseases covered by this registry also have later-onset forms, which also are included in this registry. To see all of the disorders covered in this registry, see CMDIR Subtypes.

The registry coordinators also are interested in hearing from families in which the specific muscle disorder has not been diagnosed and can assist those who wish to pursue genetic testing.

The registry is being conducted under the auspices of Cure CMD, the Joshua Frase Foundation and A Foundation Building Strength for Nemaline Myopathy, with support from additional sponsors.

Raising awareness, improving care and conducting research

The coordinators of the Congenital Muscle Disease International Registry (CMDIR) say it was created to identify the global congenital muscle disease population for the purpose of raising awareness, developing or improving standards of care, conducting clinical trials, and finding treatments or cures.

"Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual," says a statement on the registry website.

Privacy protection

The online registry asks questions about demographics, disease effects and diagnosis that can be answered by the person with a muscle disorder or a parent. The registry also requests access to medical records, such as those containing genetic test results, biopsy results, pulmonary function tests and other relevant information. Authorization for the registry to obtain these records expires every year and must be renewed.

All information will be maintained in a secure database, and personally identifiable information will not be shared.

Benefits of participation

The CMDIR coordinators say that participation in the registry:

• drives an improved understanding of your or your child's disorder;
• allows you to compare the answers you provide to answers provided by others with similar symptoms;
• allows you to track key indicators of the underlying disease (such as heart tests results) over time;
• allows you to request assistance in understanding genetic test results;
• gives you access to care management guidelines;
• gives you access to online support groups; and
• provides you with notifications of relevant clinical studies and trials as they arise.

For more information

To learn more about the CMDIR, contact Rachel Alvarez, associate director, at (323) 250-2399 or rachel.alvarez@cmdir.org.

If you wish to complete your registration in a language other than English, send an email to counselor@cmdir.org to learn if registration is available in your preferred language.

Also, read To Register or Not to Register: Should you sign up with a research registry about your disease? to learn more about registries in general.