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

Completed

• Conditions: Retinitis Pigmentosa

• Registration Number: NCT03349242
• Lead Sponsor: MeiraGTx UK II Ltd

Brief Summary

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.

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 Timeline

• Study First Submitted: 2017-11-13
• Study First Submitted QC: 2017-11-16
• Study First Posted: 2017-11-21
• Study Start: 2017-12-19
• Primary Completion: 2024-04-19
• Study Completion: 2024-04-19
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-18
• Last Update Posted: 2024-06-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 140

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (8)

Shiley Eye Institute - UCSD; 🇺🇸 La Jolla, California, United States

The Hospital for Sick Children; 🇨🇦 Toronto, Canada

Stanford University, Spencer Center for Vision Research; 🇺🇸 Stanford, California, United States

Emory Eye Centre; 🇺🇸 Atlanta, Georgia, United States

Kellogg Eye Center; 🇺🇸 Ann Arbor, Michigan, United States

UPMC Eye Centre; 🇺🇸 Pittsburgh, Pennsylvania, United States

Moorfields Eye Hospital; 🇬🇧 London, United Kingdom

Massachusetts Eye and Ear Infirmary; 🇺🇸 Boston, Massachusetts, United States