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

NCT ID: NCT01694940

Last Updated: 2026-01-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-12-31

Study Completion Date

2026-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Mitochondrial Disorders Mitochondrial Genetic Disorders Mitochondrial Diseases Disorder of Mitochondrial Respiratory Chain Complexes Deletion and Duplication of Mitochondrial DNA

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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.

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Michio Hirano, MD

Professor of Neurology

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Michio Hirano, MD

Role: STUDY_DIRECTOR

Columbia University

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University of California San Diego

San Diego, California, United States

Site Status RECRUITING

Lucile Packard Children's Hospital

Stanford, California, United States

Site Status RECRUITING

Children's Hospital of Colorado

Aurora, Colorado, United States

Site Status RECRUITING

Children's National Medical Center

Washington D.C., District of Columbia, United States

Site Status RECRUITING

University of Florida

Gainsville, Florida, United States

Site Status RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Mayo Clinic

Rochester, Minnesota, United States

Site Status RECRUITING

Columbia University Medical Center

New York, New York, United States

Site Status RECRUITING

Virtual Site (Remote enrollment)

New York, New York, United States

Site Status RECRUITING

Akron Children's Hospital

Akron, Ohio, United States

Site Status RECRUITING

Cleveland Clinic

Cleveland, Ohio, United States

Site Status RECRUITING

Case Western Reserve University

Clevland, Ohio, United States

Site Status RECRUITING

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Baylor College of Medicine

Houston, Texas, United States

Site Status RECRUITING

Seattle Children's Hospital and Regional Medical Center

Seattle, Washington, United States

Site Status RECRUITING

McMaster University

Hamilton, Ontario, Canada

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States Canada

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Michio Hirano, MD

Role: CONTACT

12123051048

Kristin Engelstad, MS

Role: CONTACT

12123056834

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Richard Hass, MD

Role: primary

18588226700

Robert Naviaux, MD

Role: backup

16195432904

Gregory Enns, MD

Role: primary

1-650-723-6858

Johan Van Hove, MD PhD MBA

Role: primary

3037242351

Abigail Collins, MD

Role: backup

7207776895

Andrea Gropman, MD

Role: primary

202-476-3511

Peter Stacpole, MD

Role: primary

13522658909

Amel Karaa, MD

Role: primary

6173556117

Ralitza Garivolova, MD

Role: primary

15072842511

Michio Hirano, MD

Role: primary

2123051048

Kristin T Engelstad

Role: primary

2123056834

Bruce Cohen, MD

Role: primary

13305436048

Sumit Parikh, MD

Role: primary

12164441994

Charles Hoppel, MD

Role: primary

12163683147

Douglas Kerr, MD

Role: backup

12168443661

Marni J Falk, MD

Role: primary

2155904564

Amy Goldstein, MD

Role: primary

1-412-692-5520

William Craigen, MD

Role: primary

17137988305

Fernando Scaglia, MD

Role: backup

18328224280

Russell Saneto, MD

Role: primary

12069872100 ext. 4017

Mark Tarnopolsky, MD

Role: primary

19055212100 ext. 75226

Related Links

Access external resources that provide additional context or updates about the study.

https://www1.rarediseasesnetwork.org/cms/NAMDC

Rare Disease Clinical Research Network NAMDC Home Page

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

U54NS078059

Identifier Type: NIH

Identifier Source: secondary_id

View Link

AAAF4597

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

MYO-SHARE: MYO-MRI in Neuromuscular Diseases
NCT04866459 ENROLLING_BY_INVITATION
The Duchenne Registry
NCT02069756 RECRUITING
Neurologic Stem Cell Treatment Study
NCT02795052 RECRUITING NA