Mitochondrial DisordersNAMDCNCT01694940
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
An observational study of Mitochondrial Disorders and Mitochondrial Genetic Disorders, run by Columbia University at 17 sites in 2 countries.
Trial summary
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases
- How many people
- 1,000 participants
- Where
- 17 sitesin 2 countries
- Study dates
- 31 Jan 2011to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with known mitochondrial disorders. People at risk of carrying a mitochondrial DNA mutation Patients with abnormal mitochondrial function
Who may be able to join
- 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.
Who cannot join
- Patients not suspected of having a mitochondrial disorder
- Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.
Trial locations and contacts
17 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
17 sites in 2 countries
United States16 sites, 16 recruiting
- Recruiting
Akron Children's Hospital
Akron, Ohio, 44308
Bruce Cohen, MD, 13305436048, bcohen@chmca.org
Bruce Cohen, MD
- Recruiting
Children's Hospital of Colorado
Aurora, Colorado, 80045
Johan Van Hove, MD PhD MBA, 3037242351
Abigail Collins, MD, 7207776895, abibail.collins@ucdenver.edu
- Recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02115
Amel Karaa, MD, 6173556117, akaraa@partners.org
Amel Karaa, MD
- Recruiting
Cleveland Clinic
Cleveland, Ohio, 44195
Sumit Parikh, MD, 12164441994, parikhs@ccf.org
Sumit Parikh, MD
- Recruiting
Case Western Reserve University
Clevland, Ohio, 44106
Charles Hoppel, MD, 12163683147, charles.hoppel@case.edu
Douglas Kerr, MD, 12168443661, douglas.kerr@case.edu
- Recruiting
University of Florida
Gainsville, Florida, 32610
Peter Stacpole, MD, 13522658909, stacpool@gcrc.ufl.edu
Peter Stacpole, MD
- Recruiting
Baylor College of Medicine
Houston, Texas, 77030
William Craigen, MD, 17137988305, wcraigen@bcm.edu
Fernando Scaglia, MD, 18328224280, fscaglia@bcm.tmc.edu
- Recruiting
Columbia University Medical Center
New York, New York, 10032
Michio Hirano, MD, 2123051048, namdc@columbia.edu
Michio Hirano, MD
- Recruiting
Virtual Site (Remote enrollment)
New York, New York, 10032
Kristin T Engelstad, 2123056834, namdc@columbia.edu
- Recruiting
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Marni J Falk, MD, 2155904564, falkm@email.chop.edu
Marni J Falk, MD
- Recruiting
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Amy Goldstein, MD, 1-412-692-5520
Amy Goldstein, MD
- Recruiting
Mayo Clinic
Rochester, Minnesota, 55902
Ralitza Garivolova, MD, 15072842511, gavrilova.ralitza@mayo.edu
Ralitza Gavrilova, MD
- Recruiting
University of California San Diego
San Diego, California, 92103
Richard Hass, MD, 18588226700, rhass@ucsd.edu
Robert Naviaux, MD, 16195432904, naviaux@ucsd.edu
- Recruiting
Seattle Children's Hospital and Regional Medical Center
Seattle, Washington, 98105
Russell Saneto, MD, 12069872100 ext. 4017, russ.saneto@seattlechildrens.org
Russell Saneto, DO PhD
- Recruiting
Lucile Packard Children's Hospital
Stanford, California, 94305
Gregory Enns, MD, 1-650-723-6858
Gregory Enns, MD
- Recruiting
Children's National Medical Center
Washington D.C., District of Columbia, 20010
Andrea Gropman, MD, 202-476-3511, agropman@cnmc.org
Andrea Gropman, MD
Canada1 site, 1 recruiting
- Recruiting
McMaster University
Hamilton, Ontario, ON L8N 3Z5
Mark Tarnopolsky, MD, 19055212100 ext. 75226, tarnopol@univmail.cis.mcmaster.ca
Mark Tarnopolsky, MD
About this study
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
Read the 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.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA
- Keywords
- mitochondrial disorders, Mito Disease, Mitochondria, Mitochondrial disease, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome, Myoclonic Epilepsy with Ragged Red Fibers (MERRF), Leber Hereditary Optic Neuropathy (LHON), Leigh Syndrome, Neuropathy, ataxia, and retinitis pigmentosa (NARP), Kearns Sayre syndrome, Alpers Huttenlocher, Pearson, Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE), Barth Syndrome, Coenzyme Q (CoQ) Deficiency, Chronic progressive external ophthalmoplegia (CPEO), DAD, Diabetes and Deafness, Encephalopathy, Encephalomyopathy
- Medical subject headings
- Mitochondrial Diseases, Mitochondrial Myopathies, Brain Diseases, Acidosis, Lactic, Stroke, MELAS Syndrome, Syndrome, MERRF Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
There is no primary outcome measure for this study
This is a registry protocol and therefore there is no primary outcome measure for this study.
Measured: end of study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Sep 2012 (estimated)
- Study start31 Jan 2011
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DisordersStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Michio Hirano, MD, Columbia University
- Investigators
- Michio Hirano, MD, Study director, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01694940
- Sponsor's protocol ID
- AAAF4597
- Other IDs
- U54NS078059
- Acronym
- NAMDC
- Status last verified
- Feb 2026
- First submitted
- 25 Sep 2012
- Last updated
- 4 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Anonymized participant data is available upon request and approval by the NAMDC Data Use Committee.
Study at a glance
From the registry record, last updated by the sponsor on 4 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
- ClinicalTrials.gov ID
- NCT01694940
- Acronym / sponsor ID
- NAMDC / AAAF4597
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA
- Keywords
- mitochondrial disorders, Mito Disease, Mitochondria, Mitochondrial disease, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome, Myoclonic Epilepsy with Ragged Red Fibers (MERRF), Leber Hereditary Optic Neuropathy (LHON), Leigh Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 31 Jan 2011 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 27 Sep 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 www.namdc.org for eligible patients who reside far from any of the NAMDC participating sites.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with known mitochondrial disorders. People at risk of carrying a mitochondrial DNA mutation Patients with abnormal mitochondrial function
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (2 listed)
- Patients not suspected of having a mitochondrial disorder
- Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Feb 2026.
- Rare Disease Clinical Research Network NAMDC Home PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Anonymized participant data is available upon request and approval by the NAMDC Data Use Committee.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Michio Hirano, MD study director
Columbia University
17 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Disorders and Mitochondrial Genetic Disorders, run by Columbia University at 17 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 17 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Michio Hirano, MD (12123051048, NAMDC@columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
There is no primary outcome measure for this study (time frame: end of study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Feb 2026.