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CompletedNCT03349242Updated Jun 20, 2024

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

An observational study in Retinitis Pigmentosa, sponsored by MeiraGTx UK II Ltd. Completed at 8 sites in 3 countries. Open to participants aged 5 Years and older. Per ClinicalTrials.gov, last updated 2024-06-20.

Sponsored by MeiraGTx UK II Ltd · Observational

Study type
Observational
Model
Other
Time perspective
Prospective
Enrollment
140
Ages
5 Years and older
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

03

Who can participate

Ages eligible
5 Years and older
Sexes eligible
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

Exclusion Criteria:

  • Are unable or unwilling to undertake consent or clinical testing
04

Study design

Observational model
Other
Time perspective
Prospective
Enrollment
140 participants (actual)
Patient registry
No
05

What researchers measure

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.

    Time frame: 6 years

Secondary outcomes

  1. Retinal Sensitivity

    To be assessed by Microperimetry

    Time frame: 6 years

  2. Retinal Structural detailed phenotyping

    Retinal Structure measured by Adaptive Optics (

    Time frame: 6 years

  3. Fundus Autofluorescence

    Presence or Absence

    Time frame: 6 years

  4. Visual Fields testing

    Assessment of Visual Fields with analysis of hill vision by perimetry

    Time frame: 6 years

06

Study locations

8 sites
  • 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
07

References and documents

Individual participant data

Plan to share: Undecided

No publications or documents are linked to this record.

08

Registry details

Key details

Study ID
NCT03349242
Lead sponsor
MeiraGTx UK II Ltd
Collaborators
Janssen, LP
Responsible party
Sponsor
First posted
Nov 21, 2017
Start date
Dec 19, 2017
Primary completion
Apr 19, 2024
Completion
Apr 19, 2024
Last update
Jun 20, 2024

Study contacts

Michel Michaelides, Prof
principal investigator · UCL/Moorfields

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Jun 2024. You cannot join it, but the record below documents what was studied.

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