1500 Participants Needed

Rare Gene Study for Retinitis Pigmentosa

(Uni-Rare Trial)

Recruiting at 44 trial locations
CC
JS
Overseen ByJosé-Alain Sahel, MD
Stay on Your Current MedsYou can continue your current medications while participating
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to better understand rare genetic conditions affecting the eyes, specifically retinal dystrophies, which can lead to vision loss. It includes a registry to collect genetic data and a natural history study to observe the progression of these conditions over time. The trial is ideal for individuals diagnosed with retinal dystrophy in both eyes and possessing a specific gene variant on the RD Rare Gene List. Participants should be able to undergo high-quality eye imaging. The trial does not involve any treatment; it focuses on gathering and analyzing genetic and clinical data. As an unphased trial, this study offers participants the chance to contribute to groundbreaking research that could lead to future treatments for retinal dystrophies.

Do I need to stop my current medications to join the trial?

The trial does not specify if you need to stop taking your current medications, but certain treatments related to eye conditions are prohibited. If you are using specific eye treatments like ocular stem cell or gene therapy, or certain implants, you may need to stop those before joining.

Why are researchers excited about this trial?

Researchers are excited about this trial because it aims to deepen our understanding of retinal dystrophies linked to rare genetic variants. Instead of focusing on a new treatment, the study is gathering comprehensive data to map out the natural progression of these rare conditions. This information could be crucial for developing future therapies and improving patient care. By identifying specific genetic factors and how they impact vision, scientists hope to pave the way for targeted treatments that could offer better results than current options.

Who Is on the Research Team?

JS

José-Alain Sahel, MD

Principal Investigator

Director, UPMC Eye Center University of Pittsburgh School of Medicine

Are You a Good Fit for This Trial?

Inclusion Criteria

Willing to participate in the study and able to communicate consent during the consent process
Willing and able to complete all applicable Registry/Screening Visit assessments
Age ≥ 4 years
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Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks
1 visit (in-person)

Genetic Screening

Genetic reports are reviewed and confirmed by Central Genetics Auditor to meet Genetic Screening Criteria

2-4 weeks
1 visit (virtual)

Registry

Participants are enrolled into the Registry and receive annual phone calls up to 48 months or until designated as NHS Target Gene

48 months
Annual phone calls

Natural History Study (NHS)

Participants return to the clinic for baseline and follow-up visits to assess retinal degeneration and identify outcome measures

48 months
Annual visits (in-person)

Follow-up

Participants are monitored for safety and effectiveness after the main study phases

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

  • None

Find a Clinic Near You

Who Is Running the Clinical Trial?

Jaeb Center for Health Research

Lead Sponsor

Trials
162
Recruited
36,200+

Foundation Fighting Blindness

Collaborator

Trials
17
Recruited
22,400+