Observing the natural progression of specific genetic forms of retinitis pigmentosa
Exploration of New Sensitive Clinical Readouts and Biomarkers That Can Be Used As Clinical Endpoints Tailored to Monitor Treatment Effects in PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa: a Non-interventional Trial
This study looks at how specific genetic forms of retinitis pigmentosa change over time in patients to help understand the disease better and guide future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 5 Years and up |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 1 site (Tübingen, Baden-Württemberg) |
| Trial ID | NCT06323772 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the natural history of retinitis pigmentosa linked to PDE6A, PDE6B, and RHO genes. It employs a novel multimodal clinical examination protocol to assess structural, functional, and metabolic changes in patients over time. By defining test-retest variability and correlating various changes, the study seeks to establish reliable readouts for future treatment efficacy and safety assessments. The focus is on understanding the disease's progression to inform potential neuroprotective therapies.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 5 and older diagnosed with PDE6A, PDE6B, or RHO-linked retinitis pigmentosa.
Not a fit: Patients with severe general diseases that would hinder participation in longer examinations may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved methods for measuring the effectiveness of future treatments for retinitis pigmentosa.
How similar studies have performed: While the approach is novel in its specific focus on these genotypes, similar observational studies have shown promise in understanding hereditary retinal diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age: from 5 years of age * Patient with PDE6A, PDE6B, and RHO-based retinitis pigmentosa * Patient and/or legal representatives are willing and able to give written informed consent Exclusion Criteria: * severe general disease, that would make longer examinations not possible
Where this trial is running
Tübingen, Baden-Württemberg
- Institute for Ophthalmic Research, University Tübingen — Tübingen, Baden-Württemberg, Germany (Recruiting)
Study contacts
- Principal investigator: Katarina Stingl, Prof — Department for Opthalmology
- Study coordinator: Katarina Stingl, Prof
- Email: katarina.stingl@med.uni-tuebingen.de
- Phone: 070712988088
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.