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Study of New Mutations in Cone Disorders

NCT04658251 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 7

Last updated 2026-05-22

No results posted yet for this study

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

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Blood and/or skin biopsy will be withdrawn, for RNA extraction in order to test the effect of the variant on splicing.

Sponsors & Collaborators

  • University Hospital, Lille

    lead OTHER

Principal Investigators

  • Claire-Marie DHAENENS, MD · University Hospital, Lille

Eligibility

Min Age
3 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-03-03
Primary Completion
2024-04-14
Completion
2024-04-14

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04658251 on ClinicalTrials.gov