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

This study is creating a registry and tissue bank for people with mitochondrial disorders. These are genetic conditions where the 'powerhouses' of your cells (mitochondria) don't work properly, leading to various symptoms like muscle weakness or seizures. Researchers are collecting information and samples from people diagnosed with, or suspected to have, a mitochondrial disorder, as well as adult carriers of specific genetic changes. This registry helps researchers better understand these rare diseases and find participants for future studies and clinical trials, which has been difficult due to how uncommon these conditions are. There isn't a specific drug or treatment being tested in this study; instead, it's about gathering important information to help future research.

Study design
This is an observational study, meaning researchers are collecting information without testing a specific intervention. The study aims to include 1000 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Not specified.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01694940

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

Recruiting
Not specifiedAll AgesObservational
Columbia University
~1,000 participants
Updated 2026-02-04 on ClinicalTrials.gov

At a glance

Recruiting sites
17 of 17 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
There is no primary outcome measure for this study
Measured over end of study

Conditions

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

Explore related trials

Mitochondrial disease

NCT01694940

Where you'd take part

This study runs at 17 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Akron Children's Hospital

    Akron, Ohiostudy coordinator listed

    Recruiting

  • Baylor College of Medicine

    Houston, Texasstudy coordinator listed

    Recruiting

  • Case Western Reserve University

    Clevland, Ohiostudy coordinator listed

    Recruiting

  • Children's Hospital of Colorado

    Aurora, Coloradostudy coordinator listed

    Recruiting

  • Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvaniastudy coordinator listed

    Recruiting

  • Children's National Medical Center

    Washington D.C., District of Columbiastudy coordinator listed

    Recruiting

  • Cleveland Clinic

    Cleveland, Ohiostudy coordinator listed

    Recruiting

  • Columbia University Medical Center

    New York, New Yorkstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Michio Hirano, MD · STUDY_DIRECTOR · Columbia University

Who to contact

Michio Hirano, MD
[email protected]
12123051048
Email the study team

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Eligibility criteria

Inclusion

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

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

What this trial measures

  • There is no primary outcome measure for this studyend of study

    This is a registry protocol and therefore there is no primary outcome measure for this study.