ArticleJCI insight2019
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Article in JCI insight, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02493816 (Phase I Study of Lentiviral-mediated COL7A1 Gene-modified Autologous Fibroblasts in Adults With Recessive Dystrophic Epidermolysis Bullosa.), which is not on this map. Cited by 49 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.
Phase I Study of Lentiviral-mediated COL7A1 Gene-modified Autologous Fibroblasts in Adults With Recessive Dystrophic Epidermolysis Bullosa.
Who cites it
49 citing papers in PubMed, 89 citations in OpenAlex.
- Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa.JCI insight · 2019Trial
- Emerging gene therapies in the treatment of recessive dystrophic epidermolysis bullosa: a systematic review.Annals of medicine and surgery (2012) · 2026Article
- Gene Therapy for Dystrophic Epidermolysis Bullosa.Experimental dermatology · 2026Review
- Innovations in topical epidermolysis bullosa treatment: integrating advanced dressings, bioactive therapies and tissue-engineered skin.Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences · 2026Review
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2025Article
- Review
- How far have we come? From understanding collagen disorders to advancing treatment strategies.Gene therapy · 2025Article
- Gene Therapies in Dermatological Diseases: A Breakthrough in Treatment.International journal of molecular sciences · 2025Review
- Towards Extracellular Vesicles in the Treatment of Epidermolysis Bullosa.Bioengineering (Basel, Switzerland) · 2025Review
- Progress in skin gene therapy: From the inside and out.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Porous Silicon Nanoneedles Efficiently Deliver Adenine Base Editor to Correct a Recurrent Pathogenic COL7A1 Variant in Recessive Dystrophic Epidermolysis Bullosa.Advanced materials (Deerfield Beach, Fla.) · 2025Article
- Gene hydrogel platforms for targeted skin therapy: bridging hereditary disorders, chronic wounds, and immune related skin diseases.Frontiers in drug delivery · 2025Review
- Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2024Article
- Twin Prime Editing Mediated Exon Skipping/Reinsertion for Restored Collagen VII Expression in Recessive Dystrophic Epidermolysis Bullosa.The Journal of investigative dermatology · 2024Article
- Current Status of Biomedical Products for Gene and Cell Therapy of Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2024Review
- A comprehensive evaluation of dermal fibroblast therapy in clinical trials for treating skin disorders and cosmetic applications: a scoping review.Stem cell research & therapy · 2024Article
- Treatment of Epidermolysis Bullosa and Future Directions: A Review.Dermatology and therapy · 2024Review
- Emerging Gene Therapeutics for Epidermolysis Bullosa under Development.International journal of molecular sciences · 2024Review
- Extracellular matrix in skin diseases: The road to new therapies.Journal of advanced research · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
41 authors at 9 institutions in 6 countries.
Funding
Abstract
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent of anchoring fibrils (AFs) in skin. We developed a self-inactivating lentiviral platform encoding a codon-optimized COL7A1 cDNA under the control of a human phosphoglycerate kinase promoter for phase I evaluation.METHODSIn this single-center, open-label phase I trial, 4 adults with RDEB each received 3 intradermal injections (~1 × 106 cells/cm2 of intact skin) of COL7A1-modified autologous fibroblasts and were followed up for 12 months. The primary outcome was safety, including autoimmune reactions against recombinant C7. Secondary outcomes included C7 expression, AF morphology, and presence of transgene in the injected skin.RESULTSGene-modified fibroblasts were well tolerated, without serious adverse reactions or autoimmune reactions against recombinant C7. Regarding efficacy, there was a significant (P < 0.05) 1.26-fold to 26.10-fold increase in C7 mean fluorescence intensity in the injected skin compared with noninjected skin in 3 of 4 subjects, with a sustained increase up to 12 months in 2 of 4 subjects. The presence of transgene (codon-optimized COL7A1 cDNA) was demonstrated in the injected skin at month 12 in 1 subject, but no new mature AFs were detected.CONCLUSIONTo our knowledge, this is the first human study demonstrating safety and potential efficacy of lentiviral fibroblast gene therapy with the presence of COL7A1 transgene and subsequent C7 restoration in vivo in treated skin at 1 year after gene therapy. These data provide a rationale for phase II studies for further clinical evaluation.TRIAL REGISTRATIONClincalTrials.gov NCT02493816.FUNDINGCure EB, Dystrophic Epidermolysis Bullosa Research Association (UK), UK NIHR Biomedical Research Centre at Guy's and St Thomas' NHS Foundation Trust and King's College London, and Fondation René Touraine Short-Exchange Award.
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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.