Skip to main content
OpenTrials
Completed

NCT Number: NCT03349242

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

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Retinal Degeneration Retinal Diseases Retinal Dystrophies

Age range

5 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

The Hospital for Sick Children, Toronto, Canada

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  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 outcomes

  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

Sponsors and collaborators

Lead sponsor

MeiraGTx UK II Ltd

Industry

Collaborators

  • Janssen, LP

Registry information

Important dates

Study start
2017
Primary completion
2024
Study completion
2024
First posted
Nov 21, 2017
Registry last updated
Jun 20, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.