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.
Disclaimer
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This is a summary of
the original study
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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.
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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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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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AP-HP Hôpital Pitié-Salpêtrière
Paris, France, 75013, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
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CHU Bordeaux - Hôpital Pellegrin
Bordeaux, France, 33076, France
Contact Phone: •••-•••-•••• Email: •••••@•••••