Exploring new genetic mutations in cone disorders
Functional Study of Intronic Variants in Inherited Cone Disorders
This study is trying to find new genetic changes in people with cone disorders to improve how we diagnose these eye conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 3 Years and up |
| Sex | All |
| Sponsor | University Hospital, Lille Academic / other |
| Locations | 1 site (Lille) |
| Trial ID | NCT04658251 on ClinicalTrials.gov |
What this trial studies
This observational study aims to enhance genetic diagnosis for patients with retinal dystrophies, particularly cone disorders, by analyzing intronic variants of unknown significance. It employs high throughput sequencing to identify mutations and utilizes functional assays to assess the impact of these mutations on splicing in patient-derived cells. The study focuses on collecting blood and skin biopsy samples to conduct detailed analyses, including RNA studies from various cell types. The goal is to provide definitive evidence of pathogenicity for these genetic variants, which is crucial for accurate diagnosis.
Who should consider this trial
Good fit: Ideal candidates include individuals with a clinical diagnosis of cone disorder who have a variant of unknown significance identified.
Not a fit: Patients without a variant of unknown significance or those unable to provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved genetic diagnoses for patients with cone disorders, enabling better management and treatment options.
How similar studies have performed: While the approach of analyzing intronic variants is gaining traction, this specific methodology remains novel and has not been extensively tested in similar studies.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Lille
- CHU lille — Lille, France (Recruiting)
Study contacts
- Principal investigator: Claire-Marie DHAENENS, MD — University Hospital, Lille
- Study coordinator: Claire-Marie DHAENENS, MD
- Email: claire-marie.dhaenens@chru-lille.fr
- Phone: 0320445962
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.