Study of New Mutations in Cone Disorders (INTROCONE)

May 16, 2022 updated by: University Hospital, Lille

Functional Study of Intronic Variants in Inherited Cone Disorders

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

20

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Lille, France, 59037
        • Recruiting
        • CHU Lille

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients carrying an intronic variant of unknown significance (or carrying an exonic variant with a predicted effect on splicing) in a gene implicated (or potentially implicated) in cone disorders, will be included in the study.

Description

Inclusion Criteria:

  • clinical diagnosis of cone disorder
  • identification of a variant of unknown significance
  • possibility of samplings
  • informed consent

Exclusion Criteria:

  • no variant of unknown significance identified
  • no informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with an intronic variant unknown in a gene implicated in cone disorders.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Effect of the intronic variant on RNA splicing observed in cellulo and/or on patient cells,
Time Frame: at 2 years
Analysis of RNA transcripts of the gene carrying a variant of unknown significance.
at 2 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Effect of the intronic variant on RNA by Minigene splice assay in transient cell cultures
Time Frame: at 2 years
at 2 years
Effect of the intronic variant on RNA by analysis of patient RNA transcripts
Time Frame: at 2 years
at 2 years
Effect of the intronic variant on RNA by analysis of transcripts from fibroblasts
Time Frame: at 2 years
at 2 years
Effect of the intronic variant on RNA by analysis of transcripts from lymphoblastoid lines
Time Frame: at 2 years
at 2 years
Effect of the intronic variant on RNA by analysis of transcripts from IPSCs (induced pluripotent stem cells)
Time Frame: at 2 years
at 2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Lille

Investigators

  • Principal Investigator: Claire-Marie DHAENENS, MD, University Hospital, Lille

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 3, 2021

Primary Completion (Anticipated)

March 1, 2026

Study Completion (Anticipated)

March 1, 2026

Study Registration Dates

First Submitted

December 1, 2020

First Submitted That Met QC Criteria

December 7, 2020

First Posted (Actual)

December 8, 2020

Study Record Updates

Last Update Posted (Actual)

May 17, 2022

Last Update Submitted That Met QC Criteria

May 16, 2022

Last Verified

May 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020_66
  • 2020-A02559-30 (Other Identifier: ID-RCB number,ANSM)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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