- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03349242
Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
April 21, 2023 updated by: MeiraGTx UK II Ltd
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
Active, not recruiting
Conditions
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
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: MeiraGTx UK II Ltd
- Phone Number: +44 (0) 20 3866 4320
- Email: ocularinfo@meiragtx.com
Study Locations
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Toronto, Canada, M5G 0A4
- The Hospital for Sick Children
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London, United Kingdom, EC1V 2PD
- Moorfields Eye Hospital
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California
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La Jolla, California, United States, 92093
- Shiley Eye Institute - UCSD
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Stanford, California, United States, 94303
- Stanford University, Spencer Center for Vision Research
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Georgia
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Atlanta, Georgia, United States, 30322
- Emory Eye Centre
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Massachusetts
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Boston, Massachusetts, United States, 02114
- Massachusetts Eye and Ear Infirmary
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Michigan
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Ann Arbor, Michigan, United States, 48105
- Kellogg Eye Center
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Pennsylvania
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Pittsburgh, Pennsylvania, United States, 15213
- UPMC Eye Centre
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Analysis of retinal structure and function to assess disease progression
Time Frame: 6 years
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Retinal structure will be measured using Adaptive optics and SD-OCT and Fundal autofluorescence.
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6 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Retinal Sensitivity
Time Frame: 6 years
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To be assessed by Microperimetry
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6 years
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Retinal Structural detailed phenotyping
Time Frame: 6 years
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Retinal Structure measured by Adaptive Optics (
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6 years
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Fundus Autofluorescence
Time Frame: 6 years
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Presence or Absence
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6 years
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Visual Fields testing
Time Frame: 6 years
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Assessment of Visual Fields with analysis of hill vision by perimetry
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6 years
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
December 19, 2017
Primary Completion (Anticipated)
May 31, 2024
Study Completion (Anticipated)
May 31, 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)
April 24, 2023
Last Update Submitted That Met QC Criteria
April 21, 2023
Last Verified
April 1, 2023
More Information
Terms related to this study
Additional Relevant MeSH Terms
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
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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BiogenCompletedX-Linked Retinitis PigmentosaUnited States, United Kingdom