Cutting-Edge DNA sequencing could end diagnostic nightmares for brain disorders
NCT ID NCT07665554
First seen Jun 24, 2026 · Last updated Jun 26, 2026 · Updated 1 time
Summary
This study will test two advanced DNA sequencing methods—long-read sequencing and optical genome mapping—to find hidden genetic causes of neurogenetic diseases. Researchers will analyze skin biopsy samples from 304 people aged 6 to 60 who have or may have these conditions. The goal is to see if these new techniques can diagnose diseases that standard tests miss, potentially ending long diagnostic journeys for families.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- Skin biopsy (procedure)
- What this could lead to
- If successful, this could lead to faster and more accurate genetic diagnoses for people with neurogenetic diseases, ending long diagnostic journeys.
- What could go wrong
- This is an early-stage study that only tests the technology's accuracy; it may not find new causes or directly benefit participants. The procedure is minimally invasive but carries small risks like infection or scarring.
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.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
AP-HP Hôpital Pitié-Salpêtrière
Paris, France, 75013, France
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CHU Bordeaux - Hôpital Pellegrin
Bordeaux, France, 33076, France