Functional Tests to Resolve Unsolved Rare Diseases. Rares.

Launched by UNIVERSITY HOSPITAL, BORDEAUX · Jan 23, 2023

Keywords

ClinConnect Summary

This clinical trial, called "Rares," is focused on finding better ways to diagnose rare diseases, including conditions like intellectual disability, Rubinstein-Taybi Syndrome, cystic fibrosis, congenital heart defects, and more. Many patients have genetic changes in their DNA that doctors do not fully understand, known as variants of unknown significance (VOUS). The trial aims to use special tests to help determine if these genetic changes are harmful or harmless, which could lead to more accurate diagnoses for patients.

To participate in this trial, individuals of all ages who are affected by one of the rare diseases mentioned and have a VOUS in their genetic testing can apply. Participants will need to be registered with the social security system and have a signed consent form from themselves or a parent if they are a minor. Throughout the trial, participants can expect to undergo various tests that will help researchers learn more about these rare diseases and improve diagnostic tools for the future. It's important to note that pregnant or nursing women, as well as those under certain legal restrictions, cannot participate.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Minor and adult patient.
• • Registered for the social security system.
• • Informed consent signed by patient or parent of a minor patient.
• • Patient affected by one of the rare diseases studied (albinism, congenital heart defect, cystic fibrosis, neurodevelopmental disease)
• • Patient bearing variants of unknown significance (VOUS)
• Exclusion Criteria:
• • Refusal to participate in research protocol.
• • Patient under administrative supervision
• • Pregnant or nursing women