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.
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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
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Centre Hospitalo-Universitaire d'Angers
RECRUITINGAngers, 49933, France
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Other studies related to the condition(s) this trial covers.
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