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

Sponsor
MeiraGTx UK II Ltd (Industry)
Overall Status
Recruiting
CT.gov ID
NCT03349242
Collaborator
Janssen, LP (Industry)
250
8
72.3
31.3
0.4

Study Details

Study Description

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 Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated 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 :
    Dec 19, 2017
    Anticipated Primary Completion Date :
    Dec 30, 2022
    Anticipated Study Completion Date :
    Dec 30, 2023

    Outcome Measures

    Primary Outcome Measures

    1. 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

    1. Retinal Sensitivity [6 years]

      To be assessed by Microperimetry

    2. Retinal Structural detailed phenotyping [6 years]

      Retinal Structure measured by Adaptive Optics (

    3. Fundus Autofluorescence [6 years]

      Presence or Absence

    4. Visual Fields testing [6 years]

      Assessment of Visual Fields with analysis of hill vision by perimetry

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    5 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Shiley Eye Institute - UCSD La Jolla California United States 92093
    2 Stanford University, Spencer Center for Vision Research Stanford California United States 94303
    3 Emory Eye Centre Atlanta Georgia United States 30322
    4 Massachusetts Eye and Ear Infirmary Boston Massachusetts United States 02114
    5 Kellogg Eye Center Ann Arbor Michigan United States 48105
    6 UPMC Eye Centre Pittsburgh Pennsylvania United States 15213
    7 The Hospital for Sick Children Toronto Canada M5G 0A4
    8 Moorfields Eye Hospital London United Kingdom EC1V 2PD

    Sponsors and Collaborators

    • MeiraGTx UK II Ltd
    • Janssen, LP

    Investigators

    • Principal Investigator: Michel Michaelides, Prof, UCL/Moorfields

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    MeiraGTx UK II Ltd
    ClinicalTrials.gov Identifier:
    NCT03349242
    Other Study ID Numbers:
    • MGT011
    First Posted:
    Nov 21, 2017
    Last Update Posted:
    Apr 6, 2022
    Last Verified:
    Apr 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    Undecided
    Plan to Share IPD:
    Undecided
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Apr 6, 2022