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

Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial

23 Apr 2024

Abstract excerpt

Abstract Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2 , which results in blindness in the working-age population, and there is currently no available treatment. Here, we report the results of the first-in-human clinical trial (NCT04722107) of gene therapy for Bietti crystalline corneoretinal dystrophy, including 12 participants who were followed up for...

Read the complete abstract on PubMed

Topics

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

Share to Retinal and Optic Conditions
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38653979
DOI: 10.1038/s41392-024-01806-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trialPMID 38653979Read ↗

Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.Semantic proximity Read ↗

AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models.Semantic proximity Read ↗

An Open-Label Phase II Study Assessing the Safety of Bilateral, Sequential Administration of Retinal Gene Therapy in Participants with Choroideremia: The GEMINI StudySemantic proximity Read ↗

In vivo genome editing via CRISPR/Cas9-mediated homology-independent targeted integration for Bietti crystalline corneoretinal dystrophy treatment.Semantic proximity Read ↗

[Gene therapy for retinitis pigmentosa].Semantic proximity Read ↗

Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophySemantic proximity Read ↗

AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice.Semantic proximity Read ↗

Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.Semantic proximity Read ↗

Emerging Gene Manipulation Strategies for the Treatment of Monogenic Eye Disease.Semantic proximity Read ↗

A novel and efficient murine model of Bietti crystalline dystrophy.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations.Semantic proximity Read ↗

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

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