ReviewCold Spring Harbor perspectives in medicine2015
Gene Therapy of ABCA4-Associated Diseases.
Review in Cold Spring Harbor perspectives in medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 43 citations in OpenAlex.
- ABCA4-associated disease in childhood and adolescence- a phenotype study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- Safety and efficacy of MCO-010 optogenetic therapy in patients with Stargardt disease in USA (STARLIGHT): an open-label multi-center Ph2 trial.EClinicalMedicine · 2025Article
- Cell Therapy for Retinal Degenerative Diseases: Progress and Prospects.Pharmaceutics · 2024Review
- Losing, preserving, and restoring vision from neurodegeneration in the eye.Current biology : CB · 2023Review
- Oxidative Stress Implication in Retinal Diseases-A Review.Antioxidants (Basel, Switzerland) · 2022Review
- New Editing Tools for Gene Therapy in Inherited Retinal Dystrophies.The CRISPR journal · 2022Review
- Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.Scientific reports · 2022Article
- A five-year follow-up ofMolecular vision · 2022Article
- Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.Current gene therapy · 2022Article
- Neovascular Age-Related Macular Degeneration (nAMD): A Review of Emerging Treatment Options.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- The Direct Healthcare Cost of Stargardt Disease: A Claims-Based Analysis.Ophthalmic epidemiology · 2021Article
- Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration.Investigative ophthalmology & visual science · 2021Article
- The Primary Cilium as a Therapeutic Target in Ocular Diseases.Frontiers in pharmacology · 2020Review
- An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.PLoS genetics · 2019Article
- Identification of novel pathogenicBioscience reports · 2019Article
- Viral Delivery Systems for CRISPR.Viruses · 2019Review
- Monitoring and Management of the Patient with Stargardt Disease.Clinical optometry · 2019Review
- Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.Human molecular genetics · 2018Article
- Novel therapeutics for Stargardt disease.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2017Review
- En face OCT in Stargardt disease.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
The ATP-binding cassette (ABC) transporter gene, ABCA4 (ABCR), was characterized in 1997 as the causal gene for autosomal recessive Stargardt disease (STGD1). Shortly thereafter several other phenotypes were associated with mutations in ABCA4, which now have collectively emerged as the most frequent cause of retinal degeneration phenotypes of Mendelian inheritance. ABCA4 functions as an important transporter (or "flippase") of vitamin A derivatives in the visual cycle. Several ways to alleviate the effects of the defective ABCA4 protein, which cause accumulation of 11-cis and all-trans-retinal in photoreceptors and lipofuscin in the retinal pigment epithelium, have been proposed. Although ABCA4 has proven to be a difficult research target, substantial progress through genetic, functional, and translational studies has allowed major advances in therapeutic applications for ABCA4-associated pathology, which should be available to patients in the (near) future. Here, we summarize the status of the gene therapy-based treatment options of ABCA4-associated diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.