Genetic testing for retinitis pigmentosa using advanced sequencing techniques
Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)
This study is testing a new way to use genetic testing to help people with retinitis pigmentosa by looking for specific gene changes that could explain their vision loss.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | University Hospital, Strasbourg, France Academic / other |
| Locations | 4 sites (Dijon and 3 other locations) |
| Trial ID | NCT02860520 on ClinicalTrials.gov |
What this trial studies
This study focuses on retinitis pigmentosa (RP), a genetic condition that leads to retinal degeneration and severe vision loss. It aims to utilize high-throughput sequencing technology to analyze the genetic and molecular epidemiology of a cohort of patients from the Grand Est region of France. Participants will undergo detailed retinal assessments, and their DNA will be sequenced to identify mutations in over 190 known genes associated with RP. The goal is to improve patient care through better understanding and diagnosis of this condition.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 years and older diagnosed with retinitis pigmentosa or with a family history of the condition.
Not a fit: Patients who do not wish to participate or have conditions that prevent them from undergoing the required tests may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and personalized treatment options for patients with retinitis pigmentosa.
How similar studies have performed: Other studies utilizing high-throughput sequencing for genetic conditions have shown promising results, indicating potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Subject of both sex, aged at least 2 years, being diagnosed with an RP, and/or having a family history of RP * Informed about the results of the preliminary medical visit, or which (s) holder (s) parental authority or the guardian / curator has (have) was (been) informed * Informed consent signed * Affiliation to the French health system Exclusion Criteria: * The patient does not want to participate to the protocol * Intercurrent diseases do not allow the practice of tests provided for this protocol * Phenocopy * Subject excluded or being excluded by another protocol * Subject in emergency case * Subject under judicial protection
Where this trial is running
Dijon and 3 other locations
- Service d'Ophtalmologie CHU Hôpital Général — Dijon, France (Not_yet_recruiting)
- Service d'Ophtalmologie, Hôpital Robert Debré, CHR — Reims, France (Not_yet_recruiting)
- Affections Rares en Génétique Ophtalmologique (CARGO) Hôpital Civil, Hôpitaux Universitaires de Strasbourg — Strasbourg, France (Recruiting)
- Service d'Ophtalmologie, CHU BRABOIS — Vandoeuvre Les Nancy, France (Not_yet_recruiting)
Study contacts
- Principal investigator: Hélène DOLLFUS, MD — Hôpitaux Universitaires de Strasbourg
- Study coordinator: Hélène DOLLFUS, MD
- Email: helene.dollfus@chru-strasbourg.fr
- Phone: 33.3.88.12.81.19
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.