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

Retinitis Pigmentosa Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03349242
• Other study ID #: MGT011
• Status: Active, not recruiting
• Start date: December 19, 2017
• Est. completion date: May 31, 2024

Study information

• Verified date: April 2023
• Source: MeiraGTx UK II Ltd
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 140
• Est. completion date: May 31, 2024
• Est. primary completion date: May 31, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Retinal Dystrophies
• Retinitis
• Retinitis Pigmentosa

Locations

Country	Name	City	State
Canada	The Hospital for Sick Children	Toronto
United Kingdom	Moorfields Eye Hospital	London
United States	Kellogg Eye Center	Ann Arbor	Michigan
United States	Emory Eye Centre	Atlanta	Georgia
United States	Massachusetts Eye and Ear Infirmary	Boston	Massachusetts
United States	Shiley Eye Institute - UCSD	La Jolla	California
United States	UPMC Eye Centre	Pittsburgh	Pennsylvania
United States	Stanford University, Spencer Center for Vision Research	Stanford	California

Sponsors (2)

Lead Sponsor	Collaborator
MeiraGTx UK II Ltd	Janssen, LP

Countries where clinical trial is conducted

United States,  Canada,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Analysis of retinal structure and function to assess disease progression	Retinal structure will be measured using Adaptive optics and SD-OCT and Fundal autofluorescence.	6 years
Secondary	Retinal Sensitivity	To be assessed by Microperimetry	6 years
Secondary	Retinal Structural detailed phenotyping	Retinal Structure measured by Adaptive Optics (	6 years
Secondary	Fundus Autofluorescence	Presence or Absence	6 years
Secondary	Visual Fields testing	Assessment of Visual Fields with analysis of hill vision by perimetry	6 years