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

Study Status: Suspended
Recruit Status: Suspended
Study Type: Interventional

Official Title: Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhance

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 2 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 2 phone calls and 5 outpatient visits over 8 weeks. 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

    Detailed Summary:

    Objective:

    Rod-cone dystrophy (RCD) is a term applied to a number of genetically heterogenous diseases presenting with night vision abnormalities, visual field defects and reduced rod electroretinography responses. Enhanced S-Cone syndrome (ESCS) is a rare autosomal recessive retinal disease with a developmental and a degenerative aspect. Macular cystic changes, often florid and usually resulting in a reduction of central acuity, are frequently associated with both diseases. The reason for this association is not well understood. Acetazolamide (Diamox) and Dorzolamide (Trusopt) have been reported to have variable success in reducing these cystic changes but the effect is frequently inadequate. The objective of this study is to evaluate the safety and potential efficacy of Interferon (IFN) gamma-1b administered topically for macular edema/retinal schisis cysts in RCD and ESCS. Possible disease-related pathophysiologic mechanisms will be explored using induced pluripotent stem cell (iPSC) protocols leading to iPSC-derived retinal pigment epithelium (RPE) and photoreceptor generation.

    Study Population:

    Up to five participants with RCD with significant macular cystic changes and up to five participants with ESCS with significant macular cystic changes will be enrolled to receive IFN gamma-1b administered topically in one eye. However, up to an additional two participants may be enrolled in order to obtain the five participants in each disease group to be included in the primary analysis if any participants withdraw from the study prior to receiving five days of treatment.

    Design:

    This is a single-center, prospective, uncontrolled, unmasked pilot Phase I/II study of the safety, to
    Sponsor: National Eye Institute (NEI)

    Current Primary Outcome: Number and severity of IP-related AEs [ Time Frame: 52 Weeks ]

    Original Primary Outcome: Same as current

    Current Secondary Outcome: Changes in Visual Function [ Time Frame: 52 Weeks ]

    Original Secondary Outcome: Same as current

    Information By: National Institutes of Health Clinical Center (CC)

    Dates:
    Date Received: January 14, 2015
    Date Started: December 17, 2014
    Date Completion: June 1, 2018
    Last Updated: May 16, 2017
    Last Verified: June 3, 2016