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Registries

Various registries exist to help compile patient-reported outcomes and clinical data for mitochondrial disease. Below you will find a list of registries that are actively seeking participation from either patients or their clinicians and will allow the entire community to take an active role in the data collection process.

Massachusetts General Hospital Clinical Registry and BioRepository

Dr. Katherine Sims and Dr. Amel Karaa from Massachusetts General Hospital currently maintain a patient Clinical Registry and BioRepository for mitochondrial disorders from patients they see personally as well as those who choose to participate but are self-referred or referred by another medical professional.  Dr. Sims started this institutional IRB-approved Registry formally in 2003 in order to better characterize the clinical features of human mitochondrial disorders and to develop a Biobank resource.  Drs. Sims and Karaa have continued to actively recruit and enroll patients/family members for inclusion in the Clinical Registry and BioRepository and welcome requests for inclusion from patients seen at other medical centers as well.

Within the Clinical Registry and BioRepository, researchers at MGH collect and store, in a password-protected database, standardized patient clinical information (both cross-sectional and longitudinal when available), family history and laboratory data. These patients, their clinical histories and biomaterials (DNA, lymphoblasts, fibroblast culture, plasma, and/or autopsy tissues as available and donated), serve as a resource for research collaborators at MGH, across the US and internationally when shared through appropriate institutional IRB-approved protocols.  Patient participation includes review of the IRB-approved informed consent document, collection of clinical information, transfer of medical records, and possible storage of patient samples in the BioRepository.

Patients with mitochondrial disorders interested in participating in MGH's Clinical Registry and BioRepository should contact research coordinator Nancy Slate at nslate@partners.org or (617)643-6451.  

Mitochondrial Disease Community Registry - United Mitochondrial Disease Foundation

The Mitochondrial Disease Community Registry (MDCR) was launched in August 2014 as a patient-populated repository of opinions, health and genetic information. The registry aims to globally identify and characterize patients, caregivers and family members of those affected by mitochondrial disease, thereby creating a natural history of the disease from the patient perspective. MDCR is designed to be complementary to clinician-populated registries such as the NAMDC Patient Data Registry and Biorepository as well as others. A central feature of MDCR is that registrants have full control of privacy settings for their profile, determining who can see and analyze their de-identified data. Registrants also control who may anonymously contact them regarding studies and trials of potential interest. These privacy settings may be changed at any time.  For more information, please visit UMDF. 

Mayo Clinic BioBank seeks assistance 

A new research resource at Mayo Clinic in Rochester, MN -- the Mitochondrial Disease Biobank -- is the first biobank in the country specifically developed to study mitochondrial diseases. Mayo Clinic is collaborating with MitoAction in hopes of identifying individuals who may be interested in participating in the Biobank.

In general, individuals who have or are suspected to have a mitochondrial disease are eligible to donate to the Mitochondrial Disease Biobank. Their family members may also be appropriate participants. Click here for more information.

North American Mitochondrial Disease Consortium

The North American Mitochondrial Disease Consortium (NAMDC) was established to create a network of all clinicians and clinical investigators in North America (US and Canada, with the hope of including Mexico in the future) who follow sizeable numbers of patients with mitochondrial diseases and are involved or interested in mitochondrial research. The NAMDC has created a clinical registry for patients, in the hopes of standardizing diagnostic criteria, collecting important standardized information on patients, and facilitating the participation of patients in research on mitochondrial diseases.

For the study of any rare disease, the collection of specimens is a major challenge. The NAMDC is establishing a repository for specimens and DNA from patients with mitochondrial diseases, in order to make materials easily available to consortium researchers.

Finally, the NAMDC will conduct clinical trials and other kinds of research. The consortium makes biostatisticians, data management experts, and specialists in clinical research available to participating physicians, so that experiments conducted through the NAMDC can make the most efficient and innovative use of the generous participation of patients.

To learn more about the NAMDC registry, please click here.