Trial reportMolecular therapy : the journal of the American Society of Gene Therapy2020
Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.
Trial report in Molecular therapy : the journal of the American Society of Gene Therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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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.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- Intravenous gentamicin therapy induces functional type VII collagen in patients with recessive dystrophic epidermolysis bullosa: an open-label clinical trial.The British journal of dermatology · 2024Trial
- Distinct responses ofMolecular therapy. Nucleic acids · 2026Article
- Full-Length Laminin-332 Promotes Integrin α3β1-Dependent Cutaneous Wound Closure in a Murine Model.Biomedicines · 2026Article
- Macrophage Extracellular Vesicles: Therapeutic Strategies for Corneal Fibrosis in Rare Diseases.Biomolecules · 2026Review
- Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2025Article
- Review
- Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation inInternational journal of molecular sciences · 2025Article
- Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.PloS one · 2025Article
- Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.Molecular therapy. Nucleic acids · 2024Article
- Reading through the nonsense: Gentamicin and ELX-02 as rescuing therapies for epidermolysis bullosa.Molecular therapy. Nucleic acids · 2024Article
- Suppressor tRNA in gene therapy.Science China. Life sciences · 2024Review
- Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population.Cureus · 2024Review
- Article
- En Route to Targeted Ribosome Editing to Replenish Skin Anchor Protein LAMB3 in Junctional Epidermolysis Bullosa.JID innovations : skin science from molecules to population health · 2024Article
- Extracellular matrix in skin diseases: The road to new therapies.Journal of advanced research · 2023Review
- Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation.Pediatric investigation · 2023Article
- Diagnosis, treatment, and research status of rare diseases related to birth defects.Intractable & rare diseases research · 2023Review
- Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.Biomolecules · 2023Review
- Stairways to Advanced Therapies for Epidermolysis Bullosa.Cold Spring Harbor perspectives in biology · 2023Review
- Anti-Laminin 332-Type Mucous Membrane Pemphigoid.Biomolecules · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Generalized severe junctional epidermolysis bullosa (GS-JEB) is an incurable and fatal autosomal recessively inherited blistering skin disease caused by mutations in the LAMA3, LAMB3, or LAMC2 genes. Most of these mutations are nonsense mutations that create premature termination codons that lead to impaired production of functional laminin 332, a protein needed for epidermal-dermal adherence. Gentamicin induces readthrough of nonsense mutations and restores the full-length protein in various genetic diseases. Using primary keratinocytes from three GS-JEB patients, we showed that gentamicin induced functional laminin 332 that reversed a JEB-associated, abnormal cell phenotype. In a subsequent open-label trial involving the same patients, we examined whether 0.5% gentamicin ointment applied topically to open skin wounds could promote nonsense mutation readthrough and create new laminin 332 in the patients' skin. Gentamicin-treated wounds exhibited increased expression of laminin 332 at the dermal-epidermal junction for at least 3 months and were associated with improved wound closure. There were no untoward side effects from topical gentamicin. The newly induced laminin 332 did not generate anti-laminin 332 autoantibodies in either the patients' blood or skin. Gentamicin readthrough therapy may be a treatment for GS-JEB patients with nonsense mutations.
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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.