NCT04658251

Study of New Mutations in Cone Disorders

Functional Study of Intronic Variants in Inherited Cone Disorders

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 20 (estimated)
• Sponsor: University Hospital, Lille · Academic / Other
• Sex: All
• Age: 3 Years
• Healthy volunteers: Not accepted

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

Conditions

• Retinal Dystrophy, Cone-Rod
• Cone Dystrophy
• Cone Rod Dystrophy
• Macular Degeneration

Interventions

Type	Name	Description
GENETIC	Blood and/or skin biopsy	Blood and/or skin biopsy will be withdrawn, for RNA extraction in order to test the effect of the variant on splicing.

Timeline

• Start date: 2021-03-03
• Primary completion: 2026-03-01
• Completion: 2026-03-01
• First posted: 2020-12-08
• Last updated: 2022-05-17

Locations

1 site across 1 country: France