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Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants

NCT05589714 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1500

Last updated 2026-04-14

No results posted yet for this study

Summary

This is an international, multicenter study with two components:

Registry

* A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection
* Enrollment is open to all genes on the RD Rare Gene List

Natural History Study

* A prospective, standardized, longitudinal Natural History Study
* Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows.

Registry Objectives

1. Genotype Characterization
2. Cross-Sectional Phenotype Characterization (within gene)
3. Establish a Link to My Retina Tracker Registry (MRTR)
4. Ancillary Exploratory Studies - Pooling of Genes

Natural History Study Objectives

1. Natural History (within gene)
2. Structure-Function Relationship (within gene)
3. Risk Factors for Progression (within gene)
4. Ancillary Exploratory Studies - Pooling of Genes

Conditions

Sponsors & Collaborators

  • Foundation Fighting Blindness

    collaborator OTHER

  • Jaeb Center for Health Research

    lead OTHER

Principal Investigators

  • José-Alain Sahel, MD · Director, UPMC Eye Center University of Pittsburgh School of Medicine

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-05-11
Primary Completion
2029-12-15
Completion
2030-12-15

Countries

  • United States
  • Australia
  • Belgium
  • Brazil
  • Canada
  • Finland
  • France
  • Israel
  • Italy
  • Mexico
  • Netherlands
  • Norway
  • Switzerland
  • United Kingdom

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05589714 on ClinicalTrials.gov