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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03349242

Enrollment

140

Registered

2017-11-21

Start date

2017-12-19

Completion date

2024-04-19

Last updated

2024-06-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Retinitis Pigmentosa

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
Visual Fields testing	6 years	Assessment of Visual Fields with analysis of hill vision by perimetry
Retinal Structural detailed phenotyping	6 years	Retinal Structure measured by Adaptive Optics (
Fundus Autofluorescence	6 years	Presence or Absence
Retinal Sensitivity	6 years	To be assessed by Microperimetry

Countries

Canada, United Kingdom, United States

Outcome results