Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2009

Drack Arlene V, Johnston Rebecca, Stone Edwin M

Abstract excerpt

BACKGROUND: In 2007, clinical trials began for gene-replacement therapy for RPE65-associated Leber congenital amaurosis. To enroll, subjects must have both disease-causing RPE65 alleles identified. Determining which patients have true disease-causing mutations requires a multistep approach. METHO...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Eye Proteins
Share to Algorithms
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to Family Health

Share to Genetic Therapy

Share to Leber Congenital Amaurosis

Share to Patient Selection

Source

Open in PubMed Open full text

Identifiers

PMID: 19840725
DOI: 10.1016/j.jaapos.2009.08.006
PMCID: PMC2860791

Genes

RPE65
CRB1
AIPL1
RDH12
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19840725-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Which Leber congenital amaurosis patients are eligible for gene therapy trials?PMID 19840725Read ↗

Leber congenital amaurosis: a genetic paradigm.Semantic proximity Read ↗

From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Semantic proximity Read ↗

Evaluation of genotype-phenotype associations in leber congenital amaurosis.Semantic proximity Read ↗

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal DystrophySemantic proximity Read ↗

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.Semantic proximity Read ↗

Predicting the pathogenicity of<i>RPE65</i>mutationsSemantic proximity Read ↗

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.Semantic proximity Read ↗

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.Semantic proximity Read ↗

Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosisSemantic proximity Read ↗

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.Semantic proximity Read ↗

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.Semantic proximity Read ↗

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.