Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
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|ClinicalTrials.gov Identifier: NCT02338973|
Recruitment Status : Terminated
First Posted : January 15, 2015
Last Update Posted : November 14, 2018
- 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.
- 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.
- People at least 12 years old with RCD or ESCS. Those with ESCS must have two mutations in the NR2E3 gene.
- 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.
- 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.
|Condition or disease||Intervention/treatment||Phase|
|Inherited Ophthalmic Diseases Inherited Retinal Degeneration||Drug: Interferon gamma-1b||Phase 1 Phase 2|
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.
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.
This is a single-center, prospective, uncontrolled, unmasked pilot Phase I/II study of the safety, tolerability and possible efficacy of IFN gamma-1b in participants with RCD and ESCS and macular cystic changes. One eye of up to five participants with RCD with significant macular cystic changes and up to five participants with ESCS with significant macular cystic changes [evidenced by optical coherence tomography (OCT) >275 microns central macular thickness and/or disruption of foveal contour] will receive topical IFN gamma-1b instilled as drops on the cornea. The initial stage of the study will include two participants from each disease category. Once all four participants have completed the 8-week visit, enrollment will be halted. Safety Adverse Event Review Committee members unaffiliated with the study will review the data as a preliminary assessment of safety and efficacy and to determine whether enrollment should continue. If the committee determines enrollment will continue, three additional participants with RCD and three participants with ESCS will be enrolled. The study will be completed once the final participant has received one year of follow-up.
The primary outcome measure related to the safety and tolerability of IFN gamma-1b administered topically at the prescribed dosage for macular cystic changes in participants with RCD and ESCS will be assessed by the number and severity of adverse events related to the IP and the number of withdrawals at 52 weeks (one year) post-administration. Additional safety of IFN gamma-1b administered topically in participants with RCD and ESCS will be determined from the assessment of retinal function, ocular structure and occurrence of adverse events at all time points. Secondary outcomes include changes in visual function including visual acuity and microperimetry, and retinal imaging with OCT and fluorescein angiography.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||4 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|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-Cone Syndrome (ESCS)|
|Study Start Date :||January 14, 2015|
|Actual Primary Completion Date :||June 1, 2018|
|Actual Study Completion Date :||July 26, 2018|
- Number and severity of IP-related AEs [ Time Frame: 52 Weeks ]
- Changes in Visual Function [ Time Frame: 52 Weeks ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02338973
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Wadih Zein, M.D.||National Eye Institute (NEI)|