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Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders

NCT ID NCT01694940

Knowledge-focused Sponsor: Columbia University Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gather data that can help scientists better understand these rare conditions and potentially guide future treatments.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2011

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

Barth syndrome brain disorder Deafness diabetes mellitus inborn mitochondrial metabolism disorder inborn mitochondrial myopathy Kearns-Sayre syndrome lactic acidosis Leber hereditary optic neuropathy Leigh syndrome Leukoencephalopathies maternally-inherited Leigh syndrome MELAS syndrome MERRF syndrome mitochondrial complex I deficiency mitochondrial complex IV deficiency, nuclear-type mitochondrial disease mitochondrial respiratory chain complex deficiency NARP syndrome progressive external ophthalmoplegia stroke disorder syndromic disease Visceral myopathy familial external ophthalmoplegia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Deletion and duplication of mitochondrial DNA Disorder of mitochondrial respiratory chain complexes Mitochondrial diseases Mitochondrial disorders Mitochondrial genetic disorders

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    17 sites in 2 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Akron Children's Hospital

    RECRUITING

    Akron, Ohio, 44308, United States

  • Baylor College of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

  • Case Western Reserve University

    RECRUITING

    Clevland, Ohio, 44106, United States

  • Children's Hospital of Colorado

    RECRUITING

    Aurora, Colorado, 80045, United States

  • Children's Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

  • Children's National Medical Center

    RECRUITING

    Washington D.C., District of Columbia, 20010, United States

  • Cleveland Clinic

    RECRUITING

    Cleveland, Ohio, 44195, United States

  • Columbia University Medical Center

    RECRUITING

    New York, New York, 10032, United States

  • Lucile Packard Children's Hospital

    RECRUITING

    Stanford, California, 94305, United States

  • Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Mayo Clinic

    RECRUITING

    Rochester, Minnesota, 55902, United States

  • McMaster University

    RECRUITING

    Hamilton, Ontario, ON L8N 3Z5, Canada

  • Seattle Children's Hospital and Regional Medical Center

    RECRUITING

    Seattle, Washington, 98105, United States

  • The Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • University of California San Diego

    RECRUITING

    San Diego, California, 92103, United States

  • University of Florida

    RECRUITING

    Gainsville, Florida, 32610, United States

  • Virtual Site (Remote enrollment)

    RECRUITING

    New York, New York, 10032, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.