Principal Investigator: Paul Bernstein
Keywords: Genetic eye disease , Retinal disease , Natural history study Department: Ophthalmology-Services
IRB Number: 00116142
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases
Recruitment Status: Recruiting

Contact Information

Kelliann  Farnsworth

Simple Summary

To gain better understanding of disease progression over time in patients with X-linked retinitis pigmentosa (XLRP)

Inclusion Criteria

  1. Are willing and able to provide informed consent for participation in the study.

  2. Are male and ≥16 years of age.

  3. Have a genetically confirmed diagnosis of XLRP (with RPGR mutation).

  4. Have active disease clinically visible within the macular region.

  5. Are willing and able to undergo ophthalmic examinations once every 3 months for up to 24 months.

  6. Have an ETDRS BCVA better than or equal to 34 letters (Equivalent to: Snellen 6/60 or 20/200; decimal 0.1; LogMAR 1.0) in at least one eye.

The study will enroll 2 BCVA cohorts, with approximately 40 subjects (20% of total) in Cohort 1 and 160 subjects (80% of total) in Cohort 2:

  • Cohort 1: ETDRS BCVA ≥ 74 letters (Equivalent to: Snellen 6/9 or 20/32; decimal 0.63; LogMar 0.2)

  • Cohort 2: ETDRS BCVA 34-73 letters, inclusive (Equivalent to: Snellen 6/12 - 6/60 or 20/40 - 20/200; decimal 0.5 - 0.1; LogMar 0.3-1.0).

Exclusion Criteria

  1. Have a history of amblyopia in the eligible eye.

  2. Have any other significant ocular or non-ocular disease/disorder which, in the opinion of the investigator, may put the subject at risk because of participation in the study, may influence the results of the study, may influence the subject’s ability to perform study diagnostic tests, or impact the subject’s ability to participate in the study. This includes clinically significant cataracts.

  3. Have participated in another research study involving an investigational medicinal product in the past 12 weeks.

Participant Reimbursement

$280 total for completion of 7 clinic visits over a 2-year time period