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About 780 results

ALLMedicine™ Leber Congenital Amaurosis Center

Research & Reviews  287 results

PacMAGI: A Pipeline Including Accurate Indel Detection For The Analysis Of PacBio Seque...
https://doi.org/10.1016/j.gene.2022.146554
Gene Sorrentino E, Albion E et. al.

May 16th, 2022 - Third generation sequencing methods, like PacBio, provide information about structural variants, introns, enhancers and promoters. We developed an automated pipeline, called PacMAGI, including quality control, alignment, SNV, INDELs, structural va...

Clinical and genetic spectrums of 413 North African families with inherited retinal dys...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097391
Orphanet Journal of Rare Diseases; Bouzidi A, Charoute H et. al.

May 14th, 2022 - Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highly heterogeneous and require combined c...

RDH12 retinopathy: clinical features, biology, genetics and future directions.
https://doi.org/10.1080/13816810.2022.2062392
Ophthalmic Genetics; Daich Varela M, Michaelides M

May 3rd, 2022 - Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. It is primarily located in photoreceptor inner segments and thereby is believed to have an important role in clearing ...

A novel phenotype associated with the R162W variant in the KCNJ13 gene.
https://doi.org/10.1080/13816810.2022.2068041
Ophthalmic Genetics; Schroeder M, Peter VG et. al.

Apr 29th, 2022 - Pathogenic variants in KCNJ13 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to incr...

The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in...
https://doi.org/10.1080/13816810.2022.2053995
Ophthalmic Genetics; Ferraz Sallum JM, Godoy J et. al.

Apr 14th, 2022 - To report the first Brazilian patient with RPE65 deficiency-inherited retinal dystrophy (RPE65-IRD) treated with voretigene neparvovec-rzyl (VN). An adult patient with Leber congenital amaurosis-2 with a homozygous mutation in the RPE65 gene (p.Ph...

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Clinicaltrials.gov  6 results

Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)
https://clinicaltrials.gov/ct2/show/NCT02781480

Jul 12th, 2021 - A dose escalation and dose expansion (Phase I/II) trial of adults and children with retinal dystrophy associated with defects in RPE65. ATIMP will be administered to one eye only in a single sub-retinal procedure

Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2
https://clinicaltrials.gov/ct2/show/NCT01208389

Mar 12th, 2021 - 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...

Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
https://clinicaltrials.gov/ct2/show/NCT01496040

Oct 7th, 2015 - The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation.

Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)
https://clinicaltrials.gov/ct2/show/NCT01521793

Jul 28th, 2014 - The purpose of this study is: To evaluate the safety of up to 3 additional courses of oral QLT091001 administered once daily for 7 days in subjects treated previously with a single 7-day course of QLT091001 in Study RET IRD 01 To evaluate whether ...

Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retin...
https://clinicaltrials.gov/ct2/show/NCT01014052

May 14th, 2013 - The purpose of this study is: to evaluate the safety of oral QLT091001 to evaluate whether 7-day treatment with oral QLT091001 can improve visual function in subjects with LCA or RP due to RPE65 or LRAT mutations to evaluate duration of visual fun...

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News  19 results

Four Ocular Abnormalities Not to Overlook in Children
https://www.medscape.com/viewarticle/907446_1

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...

Four Ocular Abnormalities Not to Overlook in Children
https://www.medscape.com/viewarticle/907446

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...

NIH Vision Researcher Among Seven to Receive Top Global Award
https://www.staging.medscape.com/viewarticle/901614

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...

NIH Vision Researcher Among Seven to Receive Top Global Award
https://www.medscape.com/viewarticle/901614

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...

Gene Therapy for Retinal Diseases Is Within Sight
https://www.medscape.com/viewarticle/824467

May 7th, 2014 - Advances in Vitreoretinal Disease Management Many vitreoretinal pathologies have witnessed impressive advances in their management over the past decade. Most of these advances have involved pharmacologic innovation aimed at controlling exudative d...

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