North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)


Lead Sponsor: Columbia University

Collaborator: National Institute of Neurological Disorders and Stroke (NINDS)

Source Columbia University
Brief Summary

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Detailed Description

Mitochondrial diseases comprise a group of relatively rare (~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondria have their own DNA (mtDNA), but they also rely on DNA from the nucleus (nDNA). Mitochondrial diseases are caused by mutations in either mitochondrial or nuclear DNA that result in poorly functioning mitochondria. This can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive, and we are unable to cure most of these diseases with currently available treatments.

Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by under-diagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials. The North American Mitochondrial Disease Consortium (NAMDC) was established to help surmount these issues. Led jointly by Drs. Michio Hirano and Salvatore DiMauro, NAMDC is a consortium of several clinicians and researchers with an interest in mitochondrial disease research in the United States and Canada.

By creating a mechanism for the sharing of patient samples with researchers, data and patient contact information, NAMDC will make it easier to conduct clinical and basic laboratory research.

Patient information will be shared through the use of the "Patient Data Registry," a specially-designed database, and patient tissue samples will be shared through the use of the "Patient Sample Biorepository", a storage facility in which patient-derived biological samples will be maintained. The Registry and the Biorepository will hopefully accelerate progress in the understanding and treatment of mitochondrial disease.

Patients can enroll at any of the NAMDC member sites. A web-based remote enrollment is also available at for eligible patients who reside far from any of the NAMDC participating sites.

Overall Status Recruiting
Start Date December 2010
Completion Date December 2025
Primary Completion Date December 2025
Study Type Observational
Primary Outcome
Measure Time Frame
There is no primary outcome measure for this study end of study
Enrollment 1000

Sampling Method: Non-Probability Sample


Inclusion Criteria:

- Patients diagnosed with or suspected to have a mitochondrial disorder

- Adult carriers of known mitochondrial DNA mutations

- Patients with laboratory analysis indicative of a mitochondrial disorder.

- Medical information and tissue samples are also accepted from deceased individuals who fulfill the above criteria.

Exclusion Criteria:

- Patients not suspected of having a mitochondrial disorder

- Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Michio Hirano, MD Study Director Columbia University
Overall Contact

Last Name: Michio Hirano, MD

Phone: 12123051048

Email: [email protected]

Facility: Status: Contact: Contact Backup: Investigator:
University of California San Diego | San Diego, California, 92103, United States Recruiting Richard Hass, MD 858-822-6700 [email protected] Robert Naviaux, MD Principal Investigator Richard Haas, MD PhD Principal Investigator
Lucile Packard Children's Hospital | Stanford, California, 94305, United States Recruiting Gregory Enns, MD 650-723-6858 Gregory Enns, MD Principal Investigator
Children's Hospital of Colorado | Aurora, Colorado, 80045, United States Recruiting Johan Van Hove, MD PhD MBA 303-724-2351 Johan Van Hove, MD PhD MBA Principal Investigator Abigail Collins, MD Principal Investigator
Children's National Medical Center | Washington, District of Columbia, 20010, United States Recruiting Andrea Gropman, MD 202-476-3511 [email protected] Andrea Gropman, MD Principal Investigator
University of Florida | Gainesville, Florida, 32610, United States Recruiting Peter Stacpole, MD 352-265-8909 [email protected] Peter Stacpole, MD Principal Investigator
Massachusetts General Hospital | Boston, Massachusetts, 02115, United States Recruiting Amel Karaa, MD 617-355-6117 [email protected] Amel Karaa, MD Principal Investigator
Mayo Clinic | Rochester, Minnesota, 55902, United States Recruiting Ralitza Garivolova, MD 507-284-2511 [email protected] Ralitza Gavrilova, MD Principal Investigator
Columbia University Medical Center | New York, New York, 10032, United States Recruiting Michio Hirano, MD 212-305-1048 [email protected] Michio Hirano, MD Principal Investigator Salvatore Dimauro, MD Principal Investigator
Virtual Site (Remote enrollment) | New York, New York, 10032, United States Recruiting Xiomara Q Rosales, MD 212-342-2336 [email protected] Xiomara Q Rosales, MD Sub-Investigator
Akron Children's Hospital | Akron, Ohio, 44308, United States Recruiting Bruce Cohen, MD 330-543-6048 [email protected] Bruce Cohen, MD Principal Investigator
Case Western Reserve University | Cleveland, Ohio, 44106, United States Recruiting Charles Hoppel, MD 216-368-3147 [email protected] Charles Hoppel, MD Principal Investigator Douglas Kerr, MD PhD Principal Investigator
Cleveland Clinic | Cleveland, Ohio, 44195, United States Recruiting Sumit Parikh, MD 216-444-1994 [email protected] Sumit Parikh, MD Principal Investigator
The Children's Hospital of Philadelphia | Philadelphia, Pennsylvania, 19104, United States Recruiting Marni J Falk, MD 215-590-4564 [email protected] Marni J Falk, MD Principal Investigator
Children's Hospital of Pittsburgh | Pittsburgh, Pennsylvania, 15224, United States Recruiting Amy Goldstein, MD 412-692-5520 Amy Goldstein, MD Principal Investigator
Baylor College of Medicine | Houston, Texas, 77030, United States Recruiting William Craigen, MD 713-798-8305 [email protected] William Craigen, MD Principal Investigator Fernando Scaglia, MD Principal Investigator
Seattle Children's Hospital and Regional Medical Center | Seattle, Washington, 98105, United States Recruiting Russell Saneto, MD 206-987-2100 4017 [email protected] Russell Saneto, DO PhD Principal Investigator
McMaster University | Hamilton, Ontario, ON L8N 3Z5, Canada Recruiting Mark Tarnopolsky, MD 19055212100 75226 [email protected] Mark Tarnopolsky, MD Principal Investigator
Location Countries


United States

Verification Date

August 2019

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Columbia University

Investigator Full Name: Michio Hirano, MD

Investigator Title: Professor of Neurology

Has Expanded Access No
Condition Browse
Arm Group

Label: Mitochondrial Disease Patients

Description: Patients with possible or known mitochondrial disorders. Patients who are known carriers of mitochondrial or nuclear DNA mutations involved in mitochondrial function.

Acronym NAMDC
Patient Data Yes
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective