North American Mitochondrial Disease Consortium Patient Registry and Biorepository North American Mitochondrial Disease Consortium
NAMDC
What is the goal of the study?
This study is currently approved by Seattle Children's IRB and is PIROSTUDY13436. We are transitioning to a Central IRB, Columbia University IRB for all sites that are continuing to participate. We have not enrolled any new patients under the current approved CUIRB consent that is attached. We have continued to use the approved Seattle Children's consent for new participants. "The NAMDC Patient Registry and Biorepository is intended to act as a resource for laboratory studies, clinical trials, natural history studies, and other research endeavors. NAMDC is a consortium of clinicians and researchers (current membership is listed at https://rarediseasesnetwork.epi.usf.edu/NAMDC/centers/index.html ) conducting research in mitochondrial disease. Each of the sites will enroll patients diagnosed with mitochondrial diseases into the project, which consists of a patient data registry and a tissue sample biobank. Patients who are suspected to have a mitochondrial disorder can also be entered into the patient registry. They must be evaluated by the site investigator. Once diagnostic data entry is finalized, the software will automatically generate a diagnosis (level of certainty and disease) based on the pre-approved NAMDC research diagnostic criteria. Additionally, asymptomatic adults with known genetic mutations affecting mitochondrial function can also be entered into the patient registry and provide samples for the biobank. Deceased patients may be enrolled in the registry and their stored samples may be included in the biobank with permission from the decedent's legal next of kin. The secondary objective of the NAMDC Registry is to establish general basic natural history of a wide variety of mitochondrial diseases through semi-annual or yearly follow-up with registry participants. Thus, based on their specific diagnosis, subjects may be asked to provide additional information to better characterize the range of manifestations and progression of their disease."
Who can participate in the study?
Please contact the study team listed below to learn more.