Mitochondrial Disease Registry Seeks Participants

If you or someone in your family has or is suspected of having a mitochondrial myopathy or other disorder of the mitochondria, the North American Mitochondrial Disease Consortium (NAMDC) would like to hear from you.

NAMDC was recently established under the auspices of the U.S. National Institutes of Health (NIH) to create a network of physicians and researchers in North America with expertise in disorders of the mitochondria — specialized compartments in the body's cells that are responsible for generating more than 90 percent of the energy needed to sustain life and support growth.

Examples of the mitochondrial myopathies (mitochondrial muscle diseases) in MDA's program are Kearns-Sayre syndrome (KSS); Leigh syndrome and maternally inherited Leigh syndrome (MILS); mitochondrial DNA depletion syndrome (MDS); mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS); mitochondrial neurogastrointestinal encephalomyopathy (MNGIE); myoclonus epilepsy with ragged red fibers (MERRF); neuropathy, ataxia and retinitis pigmentosa (NARP); Pearson syndrome; and progressive external ophthalmoplegia (PEO).

NAMDC seeks to collect information and tissue samples

The first goal of the NAMDC is to develop a registry (database) and sample bank for mitochondrial disorders.

Known as the North American Mitochondrial Disease Consortium Patient Registry and Biorepository, the registry/repository has two general aims:

• to collect contact and medical information from people with mitochondrial diseases, and their families, that will allow research to be conducted that would not otherwise be possible because of the rarity of these conditions; and
• to collect tissue and DNA samples from people with mitochondrial disorders so that these can be made available easily to researchers.

People enrolled in the registry will have the option of receiving periodic updates about research, including notification of upcoming projects or trials for which they may be eligible.

Care has been taken to ensure privacy, and no information that identifies a particular person will be released without explicit permission of that person or a parent.

Participation in the biorepository (specimen bank) is optional. It doesn't require that any samples be collected other than those already being obtained as part of a patient's care, with the exception that DNA collection from saliva or a cheek swab may be requested.

How to participate

To be eligible to participate in the NAMDC registry, you must:

• have or be suspected of having a mitochondrial disease, or be a parent of a child with a definite or suspected diagnosis of a mitochondrial disease, or be a relative of a deceased child or adult with a mitochondrial disease;
• be willing to share medical information (some of which will be collected from your doctor) through the registry; and
• be willing and able to travel to an NAMDC site for an annual evaluation (sites are located in California, Florida, Minnesota, New York, Ohio, Pennsylvania, Texas and Washington state, and a site in Ontario, Canada, is expected to open soon; see Participating Clinical Centers for a complete list and contact information).

The first step toward joining the mitochondrial disease patient registry is enrolling in the Rare Diseases Clinical Research Network Contact Registry. This step, which can be completed online, allows an NAMDC researcher to contact you to continue the process of enrolling in the mitochondrial disease registry.

An alternative first step is to contact the nearest NAMDC site, which can be found at Participating Clinical Centers.

Any questions my be addressed to the NAMDC central coordinator Johnston Grier at Columbia University by sending an email to NAMDC@Columbia.edu.