New DNA reader could solve mystery rare diseases
NCT ID NCT07400913
First seen Feb 15, 2026 · Last updated May 15, 2026 · Updated 15 times
Summary
This study will test a new DNA sequencing method (long-read sequencing) on 150 people with rare diseases like albinism or intellectual disability who haven't gotten a clear diagnosis from standard tests. The goal is to find hidden genetic changes, including methylation abnormalities, that standard short-read sequencing misses. If successful, this approach could help more patients get a diagnosis and guide future treatments.
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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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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Email: •••••@•••••
Locations
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CHU Bordeaux - Hôpital Pellegrin
Bordeaux, 33076, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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