Clinical trial NCT03349242: Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
Official title: Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Retinitis Pigmentosa
Lead sponsor: MeiraGTx UK II Ltd
Sponsor class: INDUSTRY
Collaborators: name: Janssen, LP
First posted: 2017-11-21
Enrollment: 140
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with RPGR-associated retinal dystrophy

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Analysis of retinal structure and function to assess disease progression
timeFrame: 6 years
Secondary outcomes:
measure: Retinal Sensitivity
timeFrame: 6 years
measure: Retinal Structural detailed phenotyping
timeFrame: 6 years
measure: Fundus Autofluorescence
timeFrame: 6 years
measure: Visual Fields testing
timeFrame: 6 years
Other outcomes:
Locations:
city: La Jolla
country: United States
facility: Shiley Eye Institute - UCSD
state: California
city: Stanford
country: United States
facility: Stanford University, Spencer Center for Vision Research
state: California
city: Atlanta
country: United States
facility: Emory Eye Centre
state: Georgia
city: Boston
country: United States
facility: Massachusetts Eye and Ear Infirmary
state: Massachusetts
city: Ann Arbor
country: United States
facility: Kellogg Eye Center
state: Michigan
city: Pittsburgh
country: United States
facility: UPMC Eye Centre
state: Pennsylvania
city: Toronto
country: Canada
facility: The Hospital for Sick Children
city: London
country: United Kingdom
facility: Moorfields Eye Hospital
Study officials:
affiliation: UCL/Moorfields
name: Michel Michaelides, Prof
role: PRINCIPAL_INVESTIGATOR
References: