NCT05696912View on ClinicalTrials.gov

Functional Tests to Resolve Unsolved Rare Diseases. Rares.

NARecruitingINTERVENTIONAL
Enrollment

50

Participants

Timeline

Start Date

January 30, 2023

Primary Completion Date

February 28, 2025

Study Completion Date

February 28, 2025

Conditions
Intellectual DisabilityRubinstein-Taybi SyndromeCystic FibrosisCongenital Heart DefectPeriventricular Nodular HeterotopiaNeurodegeneration With Brain Iron Accumulation (NBIA)Albinism
Interventions
GENETIC

Ex-vivo approach concerning 25 patients

Ex-vivo approach concerning 25 patients with blood sample in PAXgene tubes or skin biopsy and RNA-Seq analysis

GENETIC

In-vitro approach concerning 25 patients

In-vitro approach concerning 25 patients without specific samples needed for analysis in minigene or luciferase assay

Trial Locations (1)

33000

RECRUITING

Hopital Pellegrin, Bordeaux

All Listed Sponsors
lead

University Hospital, Bordeaux

OTHER