New RNA test could end diagnostic odyssey for rare disease patients
NCT ID NCT07075107
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tests whether analyzing RNA from blood and skin samples can find hidden genetic causes in people with rare diseases like intellectual disability. Researchers will compare results from both tissues to see which works best. The goal is to reduce the years of uncertainty many patients face without a diagnosis.
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 provide a new way to diagnose rare genetic diseases faster, ending long searches for answers for many patients.
- What could go wrong
- This is a small, early-stage study (62 participants) focused on testing a method, not a treatment. It may not work for all patients or lead to immediate benefits.
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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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Assistance publique - hôpitaux de Marseille
RECRUITINGMarseille, Provence-Alpes-Côt-d'Azue, 13354, France
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