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Massive gene hunt launched for mysterious mitochondrial diseases

NCT ID NCT01803906

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 trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The research focuses on measuring respiratory chain enzyme levels and identifying new mutations, but does not offer any treatment or direct benefit to participants.

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 6,900 people

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

Started

Feb 2012

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 of all ages, race, gender with known or suspected mitochondrial disorders and their carrier relatives (if requested).

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 suspected of having a mitochondrial disorder * Patients who may carry a genetic mutation or be related to someone with a genetic mutation which may cause a mitochondrial disorder Exclusion Criteria: * Patients who are not suspected of having a mitochondrial disorder

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Conditions

The condition(s) this trial relates to.

inborn mitochondrial metabolism disorder Kearns-Sayre syndrome Leber hereditary optic neuropathy Leigh syndrome MELAS syndrome mitochondrial disease mitochondrial DNA depletion syndrome mitochondrial neurogastrointestinal encephalomyopathy NARP syndrome

As listed by the trial registrant

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

Kearns sayer Leigh's disease LHON MELAS Mitochondrial depletion syndrome Mitochondrial disease Mitochondrial disorders MNGIE NARP

How to take part

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

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    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

  • Columbia University

    New York, New York, 10032, United States

More trials for these conditions

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