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

NCT02338973 | Terminated Phase 1 Results FDA Drug

• 2 other identifiers: 15005215-EI-0052
• Study Type: interventional
• Target: 4
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Inherited Ophthalmic Diseases; Inherited Retinal Degeneration

Keywords

Macular Edema; Rod-Cone Dystrophy; Inherited Retinal Degeneration; Enhanced S-Cone Syndrome; Interferon Gamma

Outcome Measures

Primary Outcomes (2)

• Number and Severity of IP-related AEs

  The number and severity of adverse events related to the investigation product (IP).

  Study duration, up to 52 weeks

• Number of Participants Who Withdrew

  The number of participants who withdrew early.

  Study duration, up to 52 weeks

Secondary Outcomes (29)

• Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Day 1

  Day 1

• Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Day 2

  Day 2

• Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Day 3

  Day 3

• Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Week 2

  Week 2

• Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Week 5

  Week 5

Study Arms (1)

Interferon Gamma-1b

EXPERIMENTAL

Topical interferon (IFN) gamma-1b, 112 µg dose, administered in study eye daily for two weeks

Drug: Interferon gamma-1b

Interventions

Interferon gamma-1b DRUG

Interferon Gamma-1b

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Participant must be 12 years of age or older.
• Participant (or legal guardian or legal representative) must understand and sign the protocol informed consent.
• Participant is willing to comply with the study procedures and is expected to be able to return for all study visits.
• Participant must carry a clinical diagnosis of RCD or ESCS.
• ESCS participant must have molecular confirmation with two alleles for NR2E3 gene mutations
• 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.
• 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).

You may not qualify if:

• 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).
• Participant has had diagnosis or treatment of a malignancy (excluding non-melanoma skin cancer) within the previous five years.
• Participant has received investigational treatment in another clinical study related to an ocular condition in the last six months.
• Participant is pregnant, lactating, planning to become pregnant (or father a child) during the study follow-up period.
• Participant is allergic to fluorescein dye.
• 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
• The study eye must retain adequate fixation to allow for completion of protocol assessments.
• The study eye must have macular cystic changes (\>275 microns and/or disruption of foveal contour on OCT).
• The study eye has lens, cornea, or other media opacities that preclude adequate visualization and testing of the retina.
• The study eye has undergone intraocular surgery within 6 months prior to enrollment.
• The study eye has a disease that may confound the outcome of the study \[e.g., choroidal neovascularization (CNV) in the fovea or parafoveal area\].
• 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:

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

Macular Edema; Cone-Rod Dystrophies; Enhanced S-Cone Syndrome

Interventions

interferon gamma-1b

Condition Hierarchy (Ancestors)

Macular Degeneration; Retinal Degeneration; Retinal Diseases; Eye Diseases; Eye Diseases, Hereditary; Retinal Dystrophies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Results Point of Contact

• Title: Wadih Zein, MD, Principal Investigator, NEI
• Organization: National Institutes of Health

zeinw@nei.nih.gov

301-496-8118

Study Officials

• Wadih Zein, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 14, 2015
• First Posted: January 15, 2015
• Study Start: January 14, 2015
• Primary Completion: June 1, 2018
• Study Completion: July 26, 2018
• Last Updated: August 13, 2019
• Results First Posted: August 6, 2019

Record last verified: 2018-07-26

Locations

US (1)