Summary

Eligibility
for people ages 5 years and up (full criteria)
Location
at La Jolla, California and other locations
Dates
study started
estimated completion
Principal Investigator
by Shyamanga Borooah
Photo of Shyamanga Borooah
Shyamanga Borooah

Description

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.

Details

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.

Keywords

Retinitis Pigmentosa Retinitis Retinal Dystrophies

Eligibility

You can join if…

Open to people ages 5 years and up

  • 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.

You CAN'T join if...

  • Are unable or unwilling to undertake consent or clinical testing

Locations

  • Shiley Eye Institute - UCSD accepting new patients
    La Jolla California 92093 United States
  • Emory Eye Centre accepting new patients
    Atlanta Georgia 30322 United States

Lead Scientist at UCSD

  • Shyamanga Borooah
    Assistant Professor Of Clinical, Ophthalmology. Authored (or co-authored) 54 research publications.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
MeiraGTx UK II Ltd
ID
NCT03349242
Study Type
Observational
Last Updated