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New DNA test could end diagnostic limbo for mitochondrial disease patients

NCT ID NCT07511608

First seen Apr 13, 2026 · Last updated May 24, 2026 · Updated 6 times

Summary

This study aims to develop a faster, cheaper way to analyze mitochondrial DNA from muscle fibers to help diagnose mitochondrial diseases. Researchers will test a technique called digital PCR on samples from 4 patients with uncertain genetic findings. If successful, this method could reduce the time and cost of getting a clear diagnosis.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • CHU de Nice - Service de Génétique Médicale

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

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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

    Bron, 69500, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Hôpital Gui de Chauliac - Service de Neurologie

    Montpellier, 34295, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.