Universal Rare Gene Study

• Research type

  Research Study

• Full title

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

• IRAS ID

  340880

• Contact name

  Allison Ayala

• Contact email

  aayala@jaeb.org

• Sponsor organisation

  JAEB Center for Health Research

• Clinicaltrials.gov Identifier

  NCT05589714

• Duration of Study in the UK

  4 years, 11 months, 30 days

• Research summary

  There are two components of this international, multicenter study:

  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 Registry will establish genetically and clinically well-characterized cohorts of patients across hundreds of genetic variants associated with retinal dystrophy. Characterization of these patients will accelerate eligibility screening for the natural history study, provide cross-sectional data on phenotype-genotype associations, and contribute to our knowledge of pathogenicity of these rare disease-causing variants.

  The natural history study will accelerate the identification and development of sensitive, reliable outcome measures for clinical trials which will facilitate development of treatments for retinal dystrophies due to disease-causing genetic variants. The expected impact of the natural history study is as follows:
  1. Describe the natural history of retinal degeneration in patients with rare disease-causing genetic variants
  2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials of rare inherited retinal degeneration
  3. Identify well-defined subpopulations for future clinical trials of investigative treatments for rare inherited retinal degeneration

• REC name

  West Midlands - Black Country Research Ethics Committee

• REC reference

  24/WM/0062

• Date of REC Opinion

  21 May 2024

• REC opinion

  Further Information Favourable Opinion