ALLMedicine™ Leber Congenital Amaurosis Center

Mar 6th, 2023 - In the NAD biosynthetic network, the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme fuels NAD as a co-substrate for a group of enzymes. Mutations in the nuclear-specific isoform, NMNAT1, have been extensively reported as the cause ...

Feb 23rd, 2023 - Leber congenital amaurosis (LCA) is a disease where part of the eye (the retina) is severely diseased. Usually it is detected in affected people within the first few months of life, as there is significantly poor vision at birth. Cells in the reti...

Feb 11th, 2023 - Bialleic RPGRIP1 pathogenic variants are typically associated with severe Leber congenital amaurosis (non-recordable electroretinography [ERG]) and less commonly with cone-rod dystrophy. This report highlights isolated cone dysfunction as an alter...

Feb 10th, 2023 - To report a case of Pigmented Paravenous Chorioretinal Atrophy (PPCRA) associated with a novel RPGRIP1 dominant variant. Case report. The patient underwent multimodal retinal imaging, including spectral-domain optical coherence tomography (OCT), O...

Jan 31st, 2023 - The inward rectifier potassium channel Kir7.1, encoded by the KCNJ13 gene, is a tetramer composed of two-transmembrane domain-spanning monomers, closer in homology to Kir channels associated with potassium transport such as Kir1.1, 1.2, and 1.3. C...

Feb 23rd, 2023 - Leber congenital amaurosis (LCA) is a disease where part of the eye (the retina) is severely diseased. Usually it is detected in affected people within the first few months of life, as there is significantly poor vision at birth. Cells in the reti...

Jan 25th, 2023 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...

Nov 29th, 2022 - This is a multicenter, open-label, dose ranging study in three subgroups of subjects with three consecutive cohorts. A total of 18 RP subjects with at least 6 subjects from each of the following subgroups will be selected: Biallelic autosomal rece...

Jul 18th, 2022 - The study is a follow-on to a Phase 1 dose-escalation and safety study (closed to enrollment as of June 2009). Up to twelve adults and children with a molecular diagnosis of biallelic RPE65 mutations, who have participated in the earlier Phase 1 s...

Jun 8th, 2022 - Study duration per participant is approximately 112 weeks including: an approximately 56-day screening/baseline period, an approximately 52-week study observation period including 1 treatment day, and an approximately 52-week safety follow-up peri...

Dec 5th, 2020 - Carl H. June, MD Results from the first FDA-approved in-human trial of CRISPR-edited T cells for cancer treatment suggest that such therapies can be used safely in patients, allaying some of the concerns about potential adverse effects (AEs) from...

Mar 6th, 2020 - Researchers used the gene-editing technique CRISPR within the human body for the first time, researchers said. As part of the so-called BRILLIANCE trial, the novel treatment was delivered through subretinal injection in a patient with Leber congen...

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

Sep 5th, 2018 - T. Michael Redmond, PhD, chief of the National Eye Institute (NEI) Laboratory of Retinal Cell and Molecular Biology, has received the 2018 António Champalimaud Vision Award — one of the world's most prestigious awards in vision science — for his r...