New DNA test could end diagnostic limbo for mitochondrial disease patients

NCT ID NCT07511608

First seen Apr 13, 2026 · Last updated May 14, 2026 · Updated 4 times

Summary

This study aims to create a faster, cheaper way to analyze mitochondrial DNA in muscle cells. Researchers will test a new digital PCR method on samples from 4 people with mitochondrial disease to see if it can reliably tell which genetic changes are harmful. If successful, this technique could help doctors give more definitive diagnoses and reduce long diagnostic delays.

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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.