Natural History Study for Retinitis Pigmentosa

(PHENOROD2 Trial)

Recruiting at 1 trial location

Overseen By Daniel Chung, PhD

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: SparingVision

Disqualifiers: Other gene mutations, Ocular disorders, Pregnancy

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

82 Participants Needed

Trial Summary

What is the purpose of this trial?

This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.

Will I have to stop taking my current medications?

The trial protocol does not specify whether you need to stop taking your current medications.

What data supports the effectiveness of the treatment Mobility Test, Ophthalmic examination, Ophthalmic examinations for retinitis pigmentosa?

The research mentions the development and validation of a novel mobility test to assess vision impairment in retinitis pigmentosa, which suggests that this test could be useful in evaluating the effectiveness of treatments for this condition. ^{1 2 3 4 5}

How does the treatment in the Natural History Study for Retinitis Pigmentosa differ from other treatments?

The research does not provide specific information about a unique treatment for retinitis pigmentosa, as it primarily discusses the evaluation and progression of the disease. Currently, there is no specific therapy for most forms of retinitis pigmentosa, but optical aids and sunglasses are recommended to help manage symptoms. ^{3 6 7 8 9}

Research Team

Isabelle Audo, MD, PhD

Principal Investigator

CHNO XV-XX Paris - CIC 1423

Eligibility Criteria

This study is for individuals with Retinitis Pigmentosa, a degenerative eye condition, specifically caused by mutations in the RHO, PDE6A or PDE6B genes. Participants must have a certain level of visual acuity and field diameter, understand the local language well enough to follow instructions, and be part of a health system if they're in France. Pregnant women or those with other retinal issues are excluded.

Inclusion Criteria

Binocular Visual field diameter ≥ 5° as measured on the Goldmann III-4e isopter at inclusion visit

Patient affiliated to a Health Security System if they are included in a clinical site based in France (per law)

Patients having signed the informed consent form

Exclusion Criteria

You are currently pregnant or breastfeeding.

I have a gene mutation linked to retinitis pigmentosa.

I have an eye condition that could affect my retina's function.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Observation

Participants undergo regular ophthalmic examinations and mobility testing to monitor disease progression

4 years

Annual visits for ophthalmic examination and mobility testing

Follow-up

Participants are monitored for safety and effectiveness after the main observation period

1 year

Treatment Details

Interventions

• Mobility Test
• Ophthalmic examination
• Ophthalmic examinations

Trial Overview The trial involves regular eye exams and mobility tests to track how Retinitis Pigmentosa progresses over time when it's caused by specific genetic mutations. It's an observational study meaning there's no treatment being tested; instead, researchers are studying the natural course of the disease.

Participant Groups

Group I: Study Group 2 Experimental Treatment 2 Interventions

Four years follow-up of patients with ophthalmic examination and mobility testing.

Group II: Study Group 1 Experimental Treatment 1 Intervention

Four years follow up of patients with ophthalmic examination.

Who Is Running the Clinical Trial?

SparingVision

Lead Sponsor

Trials

3

Recruited

230+

Findings from Research

In a study of 106 patients with retinitis pigmentosa (RP) over 1 to 5 years, various imaging techniques (SD-OCT, FAF, and MP) were found to reliably measure disease progression, showing strong correlations between structural and functional outcomes.

The annual rates of decline in visual acuity and other parameters were significant, with visual acuity decreasing by an average of 2.3 letters per year, indicating a measurable progression of RP that can be tracked using these imaging methods.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Progression of retinitis pigmentosa on multimodal imaging: The PREP-1 study. Iftikhar, M., Usmani, B., Sanyal, A., et al.[2020]

References

1. Japan pubmed.ncbi.nlm.nih.gov

[The relationships between visual disability and visual scores in patients with retinitis pigmentosa]. [2015]

2. United States pubmed.ncbi.nlm.nih.gov

Retrospective longitudinal study of visual acuity change in patients with retinitis pigmentosa. [2019]

3. Japan pubmed.ncbi.nlm.nih.gov

The relationship between visual disability and visual scores in patients with retinitis pigmentosa. [2019]

4. Australia pubmed.ncbi.nlm.nih.gov

Progression of retinitis pigmentosa on multimodal imaging: The PREP-1 study. [2020]

5. United States pubmed.ncbi.nlm.nih.gov

Development and Validation of a Novel Mobility Test for Rod-Cone Dystrophies: From Reality to Virtual Reality. [2023]

6. United States pubmed.ncbi.nlm.nih.gov

Progression Rate of Visual Function and Affecting Factors at Different Stages of Retinitis Pigmentosa. [2022]

7. United States pubmed.ncbi.nlm.nih.gov

Retinitis pigmentosa. A symposium on terminology and methods of examination. [2007]

8. United States pubmed.ncbi.nlm.nih.gov

Investigating the clinical validity of the guided progression analysis definition with 10-2 visual field in retinitis pigmentosa. [2023]

9. United States pubmed.ncbi.nlm.nih.gov

Clinical Evaluation of Patients with Retinitis Pigmentosa. [2023]