Summary

Eligibility
for people ages 5 years and up (full criteria)
Location
at UCSD
Dates
study started
estimated completion
Principal Investigator
by Shyamanga Borooah (ucsd)
Headshot 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
  • Stanford University, Spencer Center for Vision Research accepting new patients
    Stanford California 94303 United States

Lead Scientist at University of California Health

  • Shyamanga Borooah (ucsd)
    Assistant Professor Of Clinical, Ophthalmology, Vc-health Sciences-schools. Authored (or co-authored) 59 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
MeiraGTx UK II Ltd
ID
NCT03349242
Study Type
Observational
Participants
Expecting 250 study participants
Last Updated