Control del prurito refractario en epidermólisis ampollosa pruriginosa con dupilumab

Quintana, B Roque; Durán, E Piqué; Cejudo, J A Pérez

doi:10.1016/j.ad.2022.05.045

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…Both these cytokines play crucial roles in the T2 response. A search of the NCBI PubMed database identified eight recent studies (Clawson et al, 2021; Kluger et al, 2022; Roque Quintana et al, 2023; Shehadeh et al, 2020; Wang et al, 2021; Wu et al, 2023; Yu et al, 2023; Zhou et al, 2021) and a case report (Li et al, 2022) using the search strategy “Dystrophic epidermolysis bullosa pruriginosa” AND “dupilumab”. These eight studies described 10 cases of DEB‐Pr treated with dupilumab, finding that all cases responded well to the treatment.…”

Section: Resultsmentioning

confidence: 99%

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Zhao,

Cao,

Gao

et al. 2023

Molec Gen & Gen Med

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BackgroundVariants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB‐Pr). Duplilumab, a fully humanized anti‐IL‐4Ra monoclonal antibody, can inhibit IL‐4 and IL‐13‐driven signaling.MethodsEthical Compliance: Following our Institutional Review Board, genetic testing has been made available after completing a signed informed consent form. This article presents the case study of a DEB‐Pr patient who received dupilumab therapy. Genomic DNA was extracted from the peripheral blood of the patient.ResultsThe findings showed that a unique COL7A1 mutation was discovered in the patient who underwent genetic testing. As a result of the patient receiving dupilumab treatment, the individual reported experiencing significantly less itching and considerably improved erythema, less severe scales, crusts, and flattening of plaques.ConclusionIn conclusion, the current investigation showed that to the best of our knowledge, this is the first DEB‐Pr patient with heterozygous COL7A1 (NM_000094.3:c.8110G>A [p. Gly2704Arg]) who responded positively to dupilumab treatment without experiencing any serious side effects.

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Section: Resultsmentioning

confidence: 99%

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Zhao,

Cao,

Gao

et al. 2023

Molec Gen & Gen Med

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“…One biologic that has been tested for EB pruritus is dupilumab, a monoclonal antibody targeting the IL-4 receptor, which thus reduces the activity of the cytokines IL-4 and IL-13. Of note, an increasing number of anecdotal reports have highlighted the potential value of targeting this pathway in EB pruriginosa [117][118][119][120][121][122][123][124][125] (Figure 5). In total, approximately 16 patients with EB pruriginosa have received dupilumab, mostly with rapid and encouraging reductions in itch severity and skin inflammation.…”

Section: Anti-itch: Biologics and Janus Kinase Inhibitorsmentioning

confidence: 99%

Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects

Hou,

del Agua,

Lwin

et al. 2023

TCRM

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Dystrophic epidermolysis bullosa (DEB) is one of the major types of EB, a rare hereditary group of trauma-induced blistering skin disorders. DEB is caused by inherited pathogenic variants in the COL7A1 gene, which encodes type VII collagen, the major component of anchoring fibrils which maintain adhesion between the outer epidermis and underlying dermis. DEB can be subclassified into dominant (DDEB) and recessive (RDEB) forms. Generally, DDEB has a milder phenotype, while RDEB patients often have more extensive blistering, chronic inflammation, skin fibrosis, and a propensity for squamous cell carcinoma development, collectively impacting on daily activities and life expectancy. At present, best practice treatments are mostly supportive, and thus there is a considerable burden of disease with unmet therapeutic need. Over the last 20 years, considerable translational research efforts have focused on either trying to cure DEB by direct correction of the COL7A1 gene pathology, or by modifying secondary inflammation to lessen phenotypic severity and improve patient symptoms such as poor wound healing, itch, and pain. In this review, we provide an overview and update on various therapeutic innovations for DEB, including gene therapy, cell-based therapy, protein therapy, and disease-modifying and symptomatic control agents. We outline the progress and challenges for each treatment modality and identify likely prospects for future clinical impact.

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Treatment of Epidermolysis Bullosa and Future Directions: A Review

Danescu,

Negrutiu,

Has

2024

Dermatol Ther (Heidelb)

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Epidermolysis bullosa (EB) comprises rare genetic disorders characterized by skin and mucosal membrane blistering induced by mechanical trauma. Molecularly, pathogenic variants affect genes encoding proteins crucial for epidermal–dermal adhesion and stability. Management of severe EB is multidisciplinary, focusing on wound healing support, ensuring that patients thrive, and complication treatment. Despite extensive research over 30 years, novel therapeutic approaches face challenges. Gene therapy and protein therapy struggle with efficacy, while regenerative cell-based therapies show limited effects. Drug repurposing to target various pathogenic mechanisms has gained attention, as has in vivo gene therapy with drugs for dystrophic and junctional EB that were recently approved by the US Food and Drug Administration (FDA) and European Medicines Agency (EMA). However, their high cost limits global accessibility. This review examines therapeutic advancements made over the past 5 years, exploiting a systematic literature review and clinical trial data.

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Control del prurito refractario en epidermólisis ampollosa pruriginosa con dupilumab

Cited by 5 publications

References 8 publications

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects

Treatment of Epidermolysis Bullosa and Future Directions: A Review

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