Biobank aims to unlock genetic secrets of rare diseases
NCT ID NCT05499091
First seen Jun 29, 2026 · Last updated Jun 30, 2026 · Updated 1 time
Summary
This study collects blood, urine, and skin samples from people with rare genetic diseases whose genetic cause is not yet known. The goal is to build a biobank that researchers can use to confirm whether certain gene variants are responsible for these diseases. By identifying new disease-causing genes, the study hopes to improve diagnosis and understanding of rare conditions.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this could help diagnose more rare diseases and point toward potential treatments for these conditions.
What could go wrong
This is an observational study that builds a biobank for future research. It does not test any treatment directly, so benefits for participants are not immediate.
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
Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Centre Hospitalo-Universitaire d'Angers
RECRUITINGAngers, 49933, France