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Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
Recruiting
Trial ID: NCT03349242
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)
Stanford Investigator(s)
Eligibility
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
Recruiting
Contact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305