Skin biopsies could unlock hidden genetic diagnoses
NCT ID NCT05996731
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aims to improve diagnosis for people with rare genetic diseases whose standard genetic tests came back negative. Researchers will take a small skin sample and analyze RNA to find hidden genetic changes. The study involves 105 participants, including healthy volunteers and patients with known or suspected rare diseases.
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 improve diagnosis for people with rare genetic diseases who currently have no answers from standard genetic tests.
- What could go wrong
- This is an early-stage observational study, not a treatment trial. It may not lead to a new diagnostic tool, and results may not apply to all rare diseases.
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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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Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò"
RECRUITINGRanica, BG, 24020, Italy
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