Retinal Dystrophy Associated with Defects/Mutations in RPGR

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

MEEI Protocol ID


National Clinical Trial (NCT) Number 



Retinal dystrophy associated with defects/mutations in RPGR


MeiraGTx UK II Ltd

Principal Investigator

Rachel Huckfeldt, M.D. Ph.D.

Study Design

Prospective longitudinal study of individuals with retinal dystrophy associated with mutations in RPGR, 5 years in duration

Study Objective

  1. To identify a cohort of patients with X-linked retinitis pigmentosa (XLRP) and X-linked cone-rod dystrophy (XLCORD) associated with mutations in PRGR for in depth phenotyping
  2. To document as well as quantitatively and qualitatively investigate disease progression longitudinally using established clinical investigations
  3. To investigate the relationship between retinal structure and function (at KEC only)
  4. To correlate phenotypic findings with genotype

Who is Eligible

Key Inclusion Criteria:

  1. Males aged 5 years or older
  2. Have RPGR-associated retinal dystrophy
  3. Are able to give informed consent or assent, with the guidance of their parent /guardian where appropriate
  4. Are able to undertake age-appropriate clinical assessments as specified in the protocol

Key Exclusion Criteria:

  1. Are unable or unwilling to undertake consent or clinical testing

Subject Enrollment

Participants will be considered eligible for enrollment if they fulfill all of the inclusion criteria and none of the exclusion criteria. MEE will aim to enroll up to 15 genetically confirmed patients. 

Study Procedures

Complete clinical ocular examination, visual acuity testing, contrast sensitivity, anterior segment slit lamp examination, and posterior segment slit lamp examination. Color fundus photography and fundus auto-fluorescence. SD-OCT imaging. Blood tests.  

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