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Global registry for inherited retinal diseases

Global Patient Registry of Inherited Retinal Disease

Observational Janssen Research & Development, LLC · NCT05957276

This study is trying to collect information from people with inherited retinal diseases to better understand how these conditions progress and improve care for patients.

Quick facts

Study typeObservational
Enrollment7000 (estimated)
Ages3 Years and up
SexAll
SponsorJanssen Research & Development, LLC Industry-sponsored
Locations71 sites (Birmingham, Alabama and 70 other locations)
Trial IDNCT05957276 on ClinicalTrials.gov

What this trial studies

This observational study aims to gather comprehensive data on the natural history of inherited retinal diseases (IRD) to enhance patient management strategies. Participants will include individuals with documented signs or symptoms of IRD, as well as those who are asymptomatic but have identifiable retinal changes. The study will utilize standard care interventions while collecting genetic and clinical data to better understand the progression and impact of these conditions.

Who should consider this trial

Good fit: Ideal candidates include individuals with clinically documented IRD signs or symptoms, or those with genetic variants associated with IRD.

Not a fit: Patients without clinically documented signs of inherited retinal diseases or without relevant genetic variants may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved management and treatment strategies for patients with inherited retinal diseases.

How similar studies have performed: Other studies focusing on the natural history of inherited retinal diseases have shown promise in improving patient outcomes, indicating that this approach is supported by previous research.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria:

For Participant Selection:

* Participant has any clinically documented sign(s) and/or symptom(s) consistent with an Inherited Retinal Disease (IRD), or asymptomatic with documented retinal changes detected by imaging or electrophysiology
* Participant has documented genetic variant(s) (known pathogenic, likely pathogenic, or variants of uncertain significance) in relevant genes for any of the following IRDs: X-Linked Retinitis Pigmentosa (XLRP) and/or Achromatopsia (ACHM)
* Participant or legally acceptable representative has provided informed consent (and participant assent, when applicable) in accordance with local requirements
* Participant is able to have relevant visual and/or retinal assessments performed

For Caregiver Selection:

* Caregiver has consent from the associated participant to participate in the study, or participant assent and consent from their legally acceptable representative
* Male or female aged greater than or equal to (\>=)18 years
* Identified by an enrolled participant (or their legally acceptable representative\*) as a primary caregiver
* Caregiver has provided informed consent in accordance with local requirements

Exclusion Criteria:

For Participant Selection:

- Participant has received a treatment in an IRD-related interventional trial, or is being screened for an IRD-related interventional trial

For Caregiver Selection:

- Caregiver has an IRD diagnosis and presents with symptoms (visual impairment)

Where this trial is running

Birmingham, Alabama and 70 other locations

+21 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Inherited Retinal Diseases
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.