View clinical trials related to Achromatopsia.
Filter by:This study is a longer-term follow-up study for patients who participated in one of the clinical trials: AAV - CNGB3 retinal gene therapy for patients with achromatopsia, or AAV - CNGA3 retinal gene therapy for patients with achromatopsia.
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-402, administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGA3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.
The purpose of this study is to proof the safety and efficacy of a single bilateral subretinal injection of rAAV.hCNGA3 in adult and minor patients with CNGA3-linked achromatopsia.
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-401 administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGB3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.
Background: - Achromatopsia is an inherited condition that causes vision loss because cells in the retina do not work properly. It causes loss of acuity, sensitivity to light, and loss of color vision. There are no effective treatments for achromatopsia. - Four genes currently are known to cause achromatopsia. One of these, the cyclic nucleotide-gated channel beta 3 (CNGB3) gene, is the cause in about 50 percent of people. - CNTF is a natural chemical found in the body that promotes survival and function of nerve cells. CNTF has been shown to be effective in treating retinal disease in animals and can slow vision loss. - CNTF has also been studied in over 250 people with retinal disease other than achromatopsia. In these studies, a CNTF implant was placed into the eye during a simple surgery. The implant releases CNTF inside the eye, near the retina. These studies suggested that a CNTF implant might help vision in some eye diseases. Objectives: - To learn whether a CNTF implant is safe for people with CNGB3 achromatopsia. - To learn whether CNTF can improve visual acuity or color vision, and whether it may reduce sensitivity to light in people with CNGB3 achromatopsia. Eligibility: You may be able to take part in this study if you: - Are at least 18 years old. - Test positive for mutations in the CNGB3 gene and have no mutations in another achromatopsia gene. - Have 20/100 vision or worse in at least one eye. - Are not pregnant or nursing. Design: - To determine if you can take part, we will ask about your medical history and do a physical examination and an eye examination. Blood and urine samples will be taken. - This study requires 11 visits to the National Eye Institute over 3 years. - One visit will be for the implant surgery. The implant will be placed in one eye only. - Study visits will take place 1 day after implant surgery, and again 1 week later and 1 month, 3 months, 6 months, 1 year, 1.5 years and 3 years later. These visits will help us evaluate the safety and benefit of the implant on your eye. - At the 3 year visit, you can choose to keep the CNTF implant in your eye, or you can have us remove it.