Functional Tests to Resolve Unsolved Rare Diseases. Rares. — RID  

Cystic Fibrosis Clinical Trial

Official title: Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)

Status Recruiting

Clinical Trial 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.

Clinical Trial Description

The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actually with implementation of high-throughput sequencing for diagnosis, a high number of genetic variants are found and need to be interpretated. The ACMG classification is used to classify variants with argument of variant frequency, predicted effect on protein and in-silico prediction. Functional evidence is a strong argument to help classify VOUS. The investigators propose the use of RNA-Seq, minigene and luciferase assay for study of VOUS to bring argument to classify them as benign or pathogenic. ;

Related Conditions & MeSH terms

• Albinism
• Congenital Heart Defect
• Cystic Fibrosis
• Heart Defects, Congenital
• Intellectual Disability
• Nerve Degeneration
• Neurodegeneration With Brain Iron Accumulation (NBIA)
• Pantothenate Kinase-Associated Neurodegeneration
• Rare Diseases
• Rubinstein-Taybi Syndrome

• NCT number: NCT05696912
• Study type: Interventional
• Source: University Hospital, Bordeaux
• Contact: Vincent MICHAUD
• Phone: +335 57 82 01 93
• Email: vincent.michaud@chu-bordeaux.fr
• Status: Recruiting
• Phase: N/A
• Start date: January 30, 2023
• Completion date: February 2025