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/assent for participation in the study.

  2. Are male and ≥7 years of age.

  3. Have documentation of a pathogenic mutation in the retinitis pigmentosa GTPase regulatory (RPGR) gene.

  4. Are willing and able to undergo ophthalmic examinations as required by protocol, for up to 24 months.

  5. Have a BCVA in at least one eye as defined below:

    1. ETDRS BCVA >74 letters (Equivalent to Snellen 6/9 or 20/32; decimal 0.63; LogMAR 0.2)

    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)

Eligibility by BCVA will be divided into these 2 subgroups with a minimum of 120 eyes in the 34-73 letters subgroup.

6.  Mean total retinal sensitivity in at least 1 eye as assessed by microperimetry >0.1 decibels (dB) and <20dB*   *Subjects enrolled under the previous version of the protocol are still eligible for continuation in this study irrespective of their baseline total retinal sensitivity in the study eye.

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 or received a gene/cell-based therapy at any time previously (including but not limited to Intelligent Implant System implantation, ciliary neurotrophic factor therapy, nerve growth factor therapy).

Note: It is possible that a subject with asymmetric disease might fulfill the 2 mutually exclusive BCVA criteria in both eyes.  In this case, and only if all other eye-level inclusion (i.e. microperimetry limits) and exclusion (i.e. no ambylopia or significant ocular disease) criteria allow eligibility, both eyes of 1 subject can be study eyes, followed in the 2 BCVA subgroups.

Participant Reimbursement

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