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New DNA test could end years of uncertainty for mitochondrial disease patients

NCT ID NCT07511608

Diagnosis Sponsor: Centre Hospitalier Universitaire de Nice 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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than current methods, helping to provide definitive diagnoses for patients who currently have unclear genetic test results.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
digital PCR test
What this could lead to
If successful, this could provide a faster, cheaper way to diagnose mitochondrial diseases, reducing the long diagnostic journey for many patients.
What could go wrong
This is a very small pilot study with only 4 participants. The technique may not prove reliable enough for routine clinical use, and further validation in larger studies is needed.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 4 people

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

Expected to start

Jun 2026

An estimate. Start dates often move.

Expected to finish

Jun 2029

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.

Ages

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

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

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: * major or minor patients, sporadic or isolated cases * Signature of informed consent, for minor patients : signature of both parents or holders of parental authority, unless it is impossible to obtain the consent of one of the parents within a reasonable period of time * Affiliation to a social security system * Suspicion of a mitochondrial disorder, as assessed by the clinician at the Mitochondrial Diseases Reference Center, based on at least one of the following: * Clinical presentation suggestive of a mitochondrial disorder (unusual combination of symptoms, specific syndromes such as MELAS, muscle weakness, ptosis, etc.) and/or * Metabolic workup indicative of respiratory chain involvement and/or * Identification of a deficit affecting one or more respiratory chain complexes in a muscle biopsy. * Patient with a previously identified mitochondrial DNA variant of uncertain significance (VUS). * Histological analysis of muscle biopsy showing at least 5 COX-negative fibers. * Muscle biopsy available and possibility to retrieve slides from the pathology laboratory. Exclusion Criteria: * Refusal to sign the study consent. * Individuals admitted to a healthcare or social facility for purposes other than research participation. * Adults subject to legal guardianship (guardianship, conservatorship) * Pregnant or breastfeeding women

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Conditions

The condition(s) this trial relates to.

inborn mitochondrial metabolism disorder mitochondrial disease

As listed by the trial registrant

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

Mitochondrial disease

How to take part

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

  1. The places running it

    3 sites. 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

  • CHU de Nice - Service de Génétique Médicale

    Nice, Provence-Alpes-Côte d'Azur Region, 06202, France

  • Groupement Hospitalier Est Hospices civils de Lyon - Service de génétique médicale

    Bron, 69500, France

  • Hôpital Gui de Chauliac - Service de Neurologie

    Montpellier, 34295, France

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