Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)

The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically and genetically heterogeneous group of disorders in which there is progressive loss of rod and later cone photoreceptor function leading to severe visual impairment. RP usually occurs as an isolated retinal disorder, but it may also be seen in association with systemic abnormalities.

Study Overview

• Status: Completed
• Conditions: Retinitis Pigmentosa

Detailed Description

X-linked Retinitis Pigmentosa (XLRP) is a severe form of RP with early onset of nyctalopia and progression to legal blindness by the 3rd to 4th decade. Most affected males show symptomatic night blindness before the age of 10 years, are often myopic and show fundus abnormalities and ERG changes in early childhood. Examination of close female relatives is helpful in the absence of a family history, as the recognition of the XL carrier state will confirm the diagnosis.

• Study Type: Observational
• Enrollment (Actual): 140

Contacts and Locations

Study Locations

• Canada
  • Toronto, Canada, M5G 0A4
    • The Hospital for Sick Children
• United Kingdom
  • London, United Kingdom, EC1V 2PD
    • Moorfields Eye Hospital
• United States
  • California
    • La Jolla, California, United States, 92093
      • Shiley Eye Institute - UCSD
    • Stanford, California, United States, 94303
      • Stanford University, Spencer Center for Vision Research
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory Eye Centre
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts Eye and Ear Infirmary
  • Michigan
    • Ann Arbor, Michigan, United States, 48105
      • Kellogg Eye Center
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • UPMC Eye Centre

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with RPGR-associated retinal dystrophy

Description

Inclusion Criteria:

• Males & Females aged 5 years or older
• Have RPGR-associated retinal dystrophy
• Are able to give informed consent or assent, with the guidance of their parent/guardian where appropriate
• Are able to undertake age-appropriate clinical assessments as specified in the protocol
• Have genetic mutation within the RPGR gene confirmed by an accredited lab or research lab.

Exclusion Criteria:

• Are unable or unwilling to undertake consent or clinical testing

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Analysis of retinal structure and function to assess disease progression	Retinal structure will be measured using Adaptive optics and SD-OCT and Fundal autofluorescence.	6 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Retinal Sensitivity	To be assessed by Microperimetry	6 years
Retinal Structural detailed phenotyping	Retinal Structure measured by Adaptive Optics (	6 years
Fundus Autofluorescence	Presence or Absence	6 years
Visual Fields testing	Assessment of Visual Fields with analysis of hill vision by perimetry	6 years

Collaborators and Investigators

• Sponsor: MeiraGTx UK II Ltd
• Collaborators: Janssen, LP
• Investigators: Principal Investigator: Michel Michaelides, Prof, UCL/Moorfields

Study record dates

Study Major Dates

• Study Start (Actual): December 19, 2017
• Primary Completion (Actual): April 19, 2024
• Study Completion (Actual): April 19, 2024

Study Registration Dates

• First Submitted: November 13, 2017
• First Submitted That Met QC Criteria: November 16, 2017
• First Posted (Actual): November 21, 2017

Study Record Updates

• Last Update Posted (Actual): June 20, 2024
• Last Update Submitted That Met QC Criteria: June 18, 2024
• Last Verified: June 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Eye Diseases; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Eye Diseases, Hereditary; Retinitis; Retinitis Pigmentosa; Retinal Dystrophies
• Other Study ID Numbers: MGT011

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No