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 Enhanced S-Con

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