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Clinical Trial Summary

High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders. However, a large number of mutations are identified, mostly in introns of the genes, and in silico analysis are not sufficient to assign the pathogenicity of these mutations, without which the diagnosis confirmation cannot be done. For that purpose, a functional analysis of intronic variants of unknown significance detected in patients, with minigene splice assays in parallel with the analysis of the effect of the variant on splicing directly in the cells of the patient, by analyzing the RNA from leucocytes, fibroblasts, lymphoblastoïd cells or precursor of photoreceptor cells, which is the only proof of pathogenicity for variants


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT04658251
Study type Observational
Source University Hospital, Lille
Contact Claire-Marie DHAENENS, MD
Phone 0320445962
Email claire-marie.dhaenens@chru-lille.fr
Status Recruiting
Phase
Start date March 3, 2021
Completion date March 2026

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