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

NCT ID NCT07511608

Not yet recruiting Diagnosis Sponsor: Centre Hospitalier Universitaire de Nice Source: ClinicalTrials.gov ↗

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.

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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

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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