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

Trial ID or NCT#

NCT03349242

Status

recruiting iconRECRUITING

Purpose

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.

Official Title

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

Eligibility Criteria

Ages Eligible for Study: Older than 5 Years
Sexes Eligible for Study: All
Accepts Healthy Volunteers: No
Inclusion Criteria:
  1. - 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:
  1. - Are unable or unwilling to undertake consent or clinical testing
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Investigator(s)

Vinit B. Mahajan, MD, PhD

View on ClinicalTrials.gov