UnknownNot Applicable

Functional Tests to Resolve Unsolved Rare Diseases. Rares.

France50 participantsStarted 2023-01-30

Plain-language summary

Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The main objective is to evaluate the diagnosis yield of this strategy.

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Proportion of VOUS reclassified as pathogenic (class 5) or benign (class 1)

Timeframe: Inclusion visit

Trial details

NCT IDNCT05696912

SponsorUniversity Hospital, Bordeaux

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2025-02

Contact for this trial

Vincent MICHAUD

+335 57 82 01 93 vincent.michaud@chu-bordeaux.fr

View on ClinicalTrials.gov More Intellectual Disability trials