Publications by authors named "A M Garafalo"
Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to estimate the changes expected over the duration of a clinical trial, and to define the relationship between the photoreceptor loss and visual dysfunction.
Methods: Forty-six patients representing 36 families were included. The great majority of patients were under the age of 18 years.
Article Synopsis
- The study explores gene therapy targeting L-cone opsin expression as a treatment for blue cone monochromacy (BCM), a condition caused by the lack of long- and middle-wavelength-sensitive cone function.
- Eight patients with BCM underwent various assessments, including optical coherence tomography and chromatic perimetry, revealing outer retinal changes and significant deficiencies in color vision and visual acuity.
- The research emphasizes the need for specialized outcome measures, such as dark-adapted microperimetry and specific visual acuity tests, to evaluate the efficacy and safety of potential future treatments in clinical trials.
Background: Leber congenital amaurosis 1 (LCA1), caused by mutations in GUCY2D, is a rare inherited retinal disease that typically causes blindness in early childhood. The aim of this study was to evaluate the safety and preliminary efficacy of ascending doses of ATSN-101, a subretinal AAV5 gene therapy for LCA1.
Methods: 15 patients with genetically confirmed biallelic mutations in GUCY2D were included in this phase 1/2 study.
A new time-resolved opacity spectrometer (OpSpecTR) is currently under development for the National Ignition Facility (NIF) opacity campaign. The spectrometer utilizes Icarus version 2 (IV2) hybridized complementary metal-oxide-semiconductor sensors to collect gated data at the time of the opacity transmission signal, unlocking the ability to collect higher-temperature measurements on NIF. Experimental conditions to achieve higher temperatures are feasible; however, backgrounds will dominate the data collected by the current time-integrating opacity spectrometer.
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