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

February 2, 2026 updated by: Michio Hirano, MD, Columbia University
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Study Overview

Status

Recruiting

Conditions

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 www.namdc.org for eligible patients who reside far from any of the NAMDC participating sites.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
    • Ontario
      • Hamilton, Ontario, Canada, ON L8N 3Z5
        • Recruiting
        • McMaster University
        • Contact:
        • Principal Investigator:
          • Mark Tarnopolsky, MD
  • United States
    • California
      • San Diego, California, United States, 92103
        • Recruiting
        • University of California San Diego
        • Contact:
        • Principal Investigator:
          • Robert Naviaux, MD
        • Principal Investigator:
          • Richard Haas, MD PhD
        • Contact:
      • Stanford, California, United States, 94305
        • Recruiting
        • Lucile Packard Children's Hospital
        • Principal Investigator:
          • Gregory Enns, MD
        • Contact:
          • Gregory Enns, MD
          • Phone Number: 1-650-723-6858
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Recruiting
        • Children's Hospital of Colorado
        • Contact:
        • Principal Investigator:
          • Johan Van Hove, MD PhD MBA
        • Principal Investigator:
          • Abigail Collins, MD
        • Contact:
          • Johan Van Hove, MD PhD MBA
          • Phone Number: 3037242351
    • District of Columbia
      • Washington D.C., District of Columbia, United States, 20010
        • Recruiting
        • Children's National Medical Center
        • Contact:
        • Principal Investigator:
          • Andrea Gropman, MD
    • Florida
      • Gainsville, Florida, United States, 32610
        • Recruiting
        • University of Florida
        • Principal Investigator:
          • Peter Stacpole, MD
        • Contact:
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Recruiting
        • Massachusetts General Hospital
        • Principal Investigator:
          • Amel Karaa, MD
        • Contact:
    • Minnesota
      • Rochester, Minnesota, United States, 55902
        • Recruiting
        • Mayo Clinic
        • Principal Investigator:
          • Ralitza Gavrilova, MD
        • Contact:
    • New York
      • New York, New York, United States, 10032
        • Recruiting
        • Columbia University Medical Center
        • Principal Investigator:
          • Michio Hirano, MD
        • Contact:
      • New York, New York, United States, 10032
        • Recruiting
        • Virtual Site (Remote enrollment)
        • Contact:
    • Ohio
      • Akron, Ohio, United States, 44308
        • Recruiting
        • Akron Children's Hospital
        • Principal Investigator:
          • Bruce Cohen, MD
        • Contact:
      • Cleveland, Ohio, United States, 44195
        • Recruiting
        • Cleveland Clinic
        • Principal Investigator:
          • Sumit Parikh, MD
        • Contact:
      • Clevland, Ohio, United States, 44106
        • Recruiting
        • Case Western Reserve University
        • Contact:
        • Principal Investigator:
          • Charles Hoppel, MD
        • Principal Investigator:
          • Douglas Kerr, MD PhD
        • Contact:
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • The Children's Hospital of Philadelphia
        • Principal Investigator:
          • Marni J Falk, MD
        • Contact:
      • Pittsburgh, Pennsylvania, United States, 15224
        • Recruiting
        • Children's Hospital of Pittsburgh
        • Principal Investigator:
          • Amy Goldstein, MD
        • Contact:
          • Amy Goldstein, MD
          • Phone Number: 1-412-692-5520
    • Texas
      • Houston, Texas, United States, 77030
        • Recruiting
        • Baylor College of Medicine
        • Contact:
        • Principal Investigator:
          • William Craigen, MD
        • Principal Investigator:
          • Fernando Scaglia, MD
        • Contact:
    • Washington
      • Seattle, Washington, United States, 98105
        • Recruiting
        • Seattle Children's Hospital and Regional Medical Center
        • Principal Investigator:
          • Russell Saneto, DO PhD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients with known mitochondrial disorders. People at risk of carrying a mitochondrial DNA mutation Patients with abnormal mitochondrial function

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Mitochondrial Disease Patients
Patients with possible or known mitochondrial disorders. Patients who are known carriers of mitochondrial or nuclear DNA mutations involved in mitochondrial function.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
There is no primary outcome measure for this study
Time Frame: end of study
This is a registry protocol and therefore there is no primary outcome measure for this study.
end of study

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Columbia University

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

  • Study Director: Michio Hirano, MD, Columbia University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 31, 2011

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

September 25, 2012

First Submitted That Met QC Criteria

September 25, 2012

First Posted (Estimated)

September 27, 2012

Study Record Updates

Last Update Posted (Actual)

February 4, 2026

Last Update Submitted That Met QC Criteria

February 2, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AAAF4597
  • U54NS078059 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Anonymized participant data is available upon request and approval by the NAMDC Data Use Committee.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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