New DNA reader could solve medical mysteries for rare disease patients
NCT ID NCT07400913
First seen Feb 15, 2026 · Last updated May 24, 2026 · Updated 16 times
Summary
This study will test a new DNA sequencing method (long-read sequencing) to find genetic changes that standard tests miss in people with rare diseases like albinism and intellectual disability. Researchers will analyze stored blood or DNA samples from 150 patients to look for methylation abnormalities—chemical marks on DNA that can cause disease. The goal is to reduce the number of people who live without a diagnosis.
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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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Locations
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CHU Bordeaux - Hôpital Pellegrin
Bordeaux, 33076, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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