Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)

• Status: Terminated
• Trial end date: 2018-07-26
• Target enrollment: 0
• Participant gender: All

Summary

Background:

• People with rod-cone dystrophy (RCD) or enhanced S-cone syndrome (ESCS) have excess fluid under the retina of their eye. This can cause vision loss. The medicine interferon gamma-1b may help people with these diseases.

Objectives:

• To see if interferon gamma-1b eyedrops are safe for people with RCD or ESCS. To see if the medicine can decrease retina fluid and help prevent vision loss.

Eligibility:

• People at least 12 years old with RCD or ESCS. Those with ESCS must have two mutations in the NR2E3 gene.

Design:

• Participants will be screened with medical history, physical exam, eye exam, and blood tests.

• Participants will stay at NIH for 3 days and get the first eyedrops.

• Participants will give themselves 4 study eyedrops 4 times daily for 2 weeks and keep a diary.

• Participants will have 5 outpatient visits over 8 weeks, 2 of which are telephone assessments. They may have:

• Repeats of screening tests.

• Questionnaires.

• Small piece of skin removed.

• Eye exams, including eye dilation and tasks on computer screens.

• Fluorescein angiography. A dye injected into an arm vein will travel to the blood vessels in the eyes. A camera will take pictures.

• Electroretinography. Participants will sit in the dark wearing eyepatches. A small electrode will be taped to the forehead. After 30 minutes, researchers will remove the eyepatches and put in numbing eyedrops and contact lenses. Participants will watch flashing lights.

• Electrooculography. Electrodes will be attached outside of the eyes and eye function will be measured in the dark and the light.

• Participants will have a follow-up visit after 52 weeks.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: National Eye Institute (NEI)
• Treatments: Interferon-gamma; Interferons

Criteria

• INCLUSION CRITERIA:

To be eligible, the following inclusion criteria must be met, where applicable.

1. Participant must be 12 years of age or older.

2. Participant (or legal guardian or legal representative) must understand and sign the protocol informed consent.

3. Participant is willing to comply with the study procedures and is expected to be able to return for all study visits.

4. Participant must carry a clinical diagnosis of RCD or ESCS.

5. ESCS participant must have molecular confirmation with two alleles for NR2E3 gene mutations

6. Female participant of childbearing potential must not be pregnant or breast-feeding, must have a negative pregnancy test at screening and must be willing to undergo pregnancy tests at scheduled study visits.

7. Female participant of childbearing potential, and any male participant able to father children must have (or have a partner who has) had a hysterectomy or vasectomy, be completely abstinent from intercourse or must agree to practice two reliable methods of contraception while taking the IP and six weeks after completion. Acceptable methods of contraception include:

• Hormonal contraception (i.e., birth control pills, injected hormones, dermal patch or vaginal ring);

• Intrauterine device;

• Barrier methods (diaphragm, condom) with spermicide; or

• Surgical sterilization (tubal ligation).

EXCLUSION CRITERIA:

A participant is not eligible if any of the following exclusion criteria are present.

1. Participant has a history of other ocular disease likely to contribute significantly to visual disruption (e.g., optic neuropathy, glaucoma, uveitis, or other retinal disease).

2. Participant has had diagnosis or treatment of a malignancy (excluding non-melanoma skin cancer) within the previous five years.

3. Participant has received investigational treatment in another clinical study related to an ocular condition in the last six months.

4. Participant is pregnant, lactating, planning to become pregnant (or father a child) during the study follow-up period.

5. Participant is allergic to fluorescein dye.

6. Participant has a systemic condition that, in the opinion of the investigator, would preclude participation in the study (e.g., multiple sclerosis (MS), as IFN gamma may cause MS exacerbations).

Study Eye Eligibility Criteria

A participant must have at least one eye meeting all inclusion criteria and none of the exclusion criteria listed below.

Study Eye Inclusion Criteria

1. The study eye must retain adequate fixation to allow for completion of protocol assessments.

2. The study eye must have macular cystic changes (>275 microns and/or disruption of foveal contour on OCT).

Study Eye Exclusion Criteria

1. The study eye has lens, cornea, or other media opacities that preclude adequate visualization and testing of the retina.

2. The study eye has undergone intraocular surgery within 6 months prior to enrollment.

3. The study eye has a disease that may confound the outcome of the study [e.g., choroidal neovascularization (CNV) in the fovea or parafoveal area].

4. Participant is unwilling to discontinue wearing a contact lens in the study eye during IP administration.

Study Eye Selection Criteria in Cases of Bilateral Disease

RCD and ESCS usually affect both eyes to a similar degree. In case both eyes of a participant meet the study eye eligibility criteria, the following criteria will be used to select the study eye:

• The eye with more intraretinal fluid will be selected as the study eye;

• If both eyes have similar levels of intraretinal fluid, the eye with worse visual acuity will be selected as the study eye;

• If both eyes have the similar levels of intraretinal fluid and visual acuities, the right eye will be selected as the study eye.