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Major study tracks mitochondrial disease to unlock its secrets

NCT ID NCT06504433

Knowledge-focused Sponsor: Neuroscience Research Australia 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 follows 500 adults (400 with mitochondrial disease and 100 healthy or other-disease controls) for up to 10 years. Researchers collect medical data and samples to create a biobank, aiming to better understand how the disease progresses and to find ways to diagnose it earlier. No new treatments are tested—this is purely an observation study.

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 500 people

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

Started

May 2024

Expected to finish

May 2034

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

Participants (at least 400) with confirmed MITO (on genetic/clinical grounds) will be recruited into this study through NeuRA, Randwick, NSW by CI/CPI Professor Carolyn Sue AM FAHMS. The study will recruit 100 control participants who may be: i. age and gender-matched healthy controls from the NeuRA database of volunteers; ii. asymptomatic relatives of MITO participants or iii. non-MITO movement disorder controls recruited from other clinics at NeuRA.

Ages

18 years and older

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: 1. A clinical and/or genetically confirmed diagnosis of MITO. 2. Individuals \> 18 years of age, managed by a specialist neurologist, with confirmed MITO 3. Control participants will comprise asymptomatic relatives of confirmed MITO patients with no clinical or genetic evidence of MITO; clinically confirmed non-MITO movement disease controls (from other clinics at NeuRA) or age/gender-matched healthy participants. Exclusion Criteria: * Those participants who do NOT match the inclusion criteria above * Not willing to participate in the AMDC Clinical Registry * Not willing to undergo genetic testing * Not willing to provide consent

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Conditions

The condition(s) this trial relates to.

hereditary disease inborn mitochondrial metabolism disorder mitochondrial disease nervous system disorder

As listed by the trial registrant

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

Genetic disease Mitochondrial diseases Neurological diseases or conditions

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

    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

  • Neuroscience Research Australia

    RECRUITING

    Randwick, New South Wales, 2031, Australia

More trials for these conditions

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