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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03349242
Recruitment Status : Recruiting
First Posted : November 21, 2017
Last Update Posted : April 6, 2022
Janssen, LP
Information provided by (Responsible Party):
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.

Condition or disease
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.

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Study Type : Observational
Estimated Enrollment : 250 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
Actual Study Start Date : December 19, 2017
Estimated Primary Completion Date : December 30, 2022
Estimated Study Completion Date : December 30, 2023

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Analysis of retinal structure and function to assess disease progression [ Time Frame: 6 years ]
    Retinal structure will be measured using Adaptive optics and SD-OCT and Fundal autofluorescence.

Secondary Outcome Measures :
  1. Retinal Sensitivity [ Time Frame: 6 years ]
    To be assessed by Microperimetry

  2. Retinal Structural detailed phenotyping [ Time Frame: 6 years ]
    Retinal Structure measured by Adaptive Optics (

  3. Fundus Autofluorescence [ Time Frame: 6 years ]
    Presence or Absence

  4. Visual Fields testing [ Time Frame: 6 years ]
    Assessment of Visual Fields with analysis of hill vision by perimetry

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with RPGR-associated retinal dystrophy

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03349242

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Contact: MeiraGTx UK II Ltd +44 (0) 20 3866 4320 ocularinfo@meiragtx.com

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United States, California
Shiley Eye Institute - UCSD Recruiting
La Jolla, California, United States, 92093
Contact: Iliana Molina    858-822-2585      
Principal Investigator: Shyamanga Borooah         
Stanford University, Spencer Center for Vision Research Recruiting
Stanford, California, United States, 94303
Contact    650-497-7935      
Principal Investigator: Vinit Mahajan         
United States, Georgia
Emory Eye Centre Recruiting
Atlanta, Georgia, United States, 30322
Contact: Judith Tribe    404-778-5629      
Principal Investigator: Nieraj Jain         
United States, Massachusetts
Massachusetts Eye and Ear Infirmary Recruiting
Boston, Massachusetts, United States, 02114
Contact: Iris Wen    617-573-3780    OphthalmologyClinicalResearch@meei.harvard.edu   
Principal Investigator: Racheal Huckfeldt, Dr         
United States, Michigan
Kellogg Eye Center Recruiting
Ann Arbor, Michigan, United States, 48105
Contact: Adrienne Chen    734-232-9167    KelloggResearch@med.umich.edu   
Principal Investigator: Thiran Jayasundera         
United States, Pennsylvania
UPMC Eye Centre Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Contact: April Miller    412-647-3928      
Principal Investigator: Mahmood Shah         
The Hospital for Sick Children Recruiting
Toronto, Canada, M5G 0A4
Contact: Vaishnavi Batmanabane         
Principal Investigator: Elise Heon         
United Kingdom
Moorfields Eye Hospital Recruiting
London, United Kingdom, EC1V 2PD
Contact: Oritsemiyemi Omatsuli    020 7253 3411      
Principal Investigator: Michel Michaelides         
Sponsors and Collaborators
MeiraGTx UK II Ltd
Janssen, LP
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Principal Investigator: Michel Michaelides, Prof UCL/Moorfields
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Responsible Party: MeiraGTx UK II Ltd
ClinicalTrials.gov Identifier: NCT03349242    
Other Study ID Numbers: MGT011
First Posted: November 21, 2017    Key Record Dates
Last Update Posted: April 6, 2022
Last Verified: April 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Retinitis Pigmentosa
Retinal Dystrophies
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Degeneration
Genetic Diseases, Inborn