New test aims to solve medical mysteries for undiagnosed patients

NCT ID NCT05996731

Summary

This study aims to develop and test a new diagnostic tool using RNA sequencing (RNA-Seq) to find the genetic causes of rare diseases. It will enroll about 105 participants, including healthy people, patients with known diagnoses, and patients who remain undiagnosed after standard genetic testing. The main goal is to see if analyzing RNA from skin or blood samples can provide answers where DNA tests have failed.

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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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò"

    RECRUITING

    Ranica, BG, 24020, Italy

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.