Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
1 other identifier
observational
140
3 countries
8
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Dec 2017
Longer than P75 for all trials
8 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
November 13, 2017
CompletedFirst Posted
Study publicly available on registry
November 21, 2017
CompletedStudy Start
First participant enrolled
December 19, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 19, 2024
CompletedStudy Completion
Last participant's last visit for all outcomes
April 19, 2024
CompletedJune 20, 2024
June 1, 2024
6.3 years
November 13, 2017
June 18, 2024
Conditions
Outcome Measures
Primary Outcomes (1)
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 Outcomes (4)
Retinal Sensitivity
6 years
Retinal Structural detailed phenotyping
6 years
Fundus Autofluorescence
6 years
Visual Fields testing
6 years
Eligibility Criteria
Patients with RPGR-associated retinal dystrophy
You may qualify if:
- 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.
You may not qualify if:
- Are unable or unwilling to undertake consent or clinical testing
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- MeiraGTx UK II Ltdlead
- Janssen, LPcollaborator
Study Sites (8)
Shiley Eye Institute - UCSD
La Jolla, California, 92093, United States
Stanford University, Spencer Center for Vision Research
Stanford, California, 94303, United States
Emory Eye Centre
Atlanta, Georgia, 30322, United States
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, 02114, United States
Kellogg Eye Center
Ann Arbor, Michigan, 48105, United States
UPMC Eye Centre
Pittsburgh, Pennsylvania, 15213, United States
The Hospital for Sick Children
Toronto, M5G 0A4, Canada
Moorfields Eye Hospital
London, EC1V 2PD, United Kingdom
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Michel Michaelides, Prof
UCL/Moorfields
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 13, 2017
First Posted
November 21, 2017
Study Start
December 19, 2017
Primary Completion
April 19, 2024
Study Completion
April 19, 2024
Last Updated
June 20, 2024
Record last verified: 2024-06