131 Phase I/II efficacy and safety study of mesenchymal stromal cells in recessive dystrophic epidermolysis bullosa

Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) have a pronounced muco-cutaneous fragility, which triggers the formation of blisters spontaneously or in response to minimal trauma. RDEB is also associated with chronic inflammation; patients have wounds that do not close and aggressive squamous cell carcinomas. The disease is due to mutations in the COL7A1 gene that codifies for collagen VII (C7). One of the most promising therapeutic options is the use of mesenchymal stromal cells (MSCs) from healthy donors that, in addition to producing C7 and having anti-inflammatory properties, are well tolerated by the patient ’s immune system.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Clinical Research and Epidemiology Source Type: research

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We report a 32-year-old man with RDEB with previously localized SCC who later developed metastatic SCC. He was started on cemiplimab (an immune checkpoint inhibitor) 350 mg IV every 3 weeks. An objective radiological response was noted within 3 cycles. On 14 months follow-up, there was a durable response to treatment clinically and on imaging, without immune-related adverse events. To our knowledge, this is the first case report describing safe administration of immune checkpoint inhibitors in a patient with RDEB with objective and durable response of metastatic SCC. Larger case series and controlled clinical trials are ne...
Source: Case Reports in Oncology - Category: Cancer & Oncology Source Type: research
CONCLUSION: Targeting TGFBR1 kinase activity may have therapeutic benefit in the majority of RDEB cSCCs, however, the potential tumour suppressive role of TGFβ signalling in a subset of RDEB cSCCs necessitates biomarker identification to enable patient stratification before clinical intervention. PMID: 32726455 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
This case report describes a woman in her 40s with recessive dystrophic epidermolysis bullosa and multiple cutaneous squamous cell carcinomas who was successfully treated with pembrolizumab.
Source: JAMA Dermatology - Category: Dermatology Source Type: research
Cutaneous squamous cell carcinomas (cSCC) are the primary cause of premature deaths in patients suffering from the rare skin-fragility disorder recessive dystrophic epidermolysis bullosa (RDEB), which is in ma...
Source: Cell Communication and Signaling - Category: Molecular Biology Authors: Tags: Research Source Type: research
Conclusions: There are many benefits to ATPSG reconstruction when chosen for the appropriate candidate. The meticulous technique and strict adherence to the postoperative protocol are crucial when these reconstructions are performed. Detailed descriptions of intraoperative and postoperative recommendations to optimize outcomes after ATPSG are presented.
Source: Plastic and Reconstructive Surgery Global Open - Category: Cosmetic Surgery Tags: Original Articles Source Type: research
Condition:   Recessive Dystrophic Epidermolysis Bullosa Intervention:   Sponsor:   Assistance Publique - Hôpitaux de Paris Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disorder, characterized by trauma-induced blistering followed by soft tissue fibrosis. One of the most feared complications is the early de...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
uml;m A Abstract Dystrophic epidermolysis bullosa (DEB) is a skin blistering disease caused by mutations in the COL7A1 gene encoding the anchoring fibril-constituent collagen VII.1 Secondary to skin fragility, DEB manifests as chronic wounds and progressive soft tissue fibrosis. As a consequence of a chronically injured and stiffened dermal microenvironment people with severe DEB are prone to develop early-onset metastatic cutaneous squamous cell carcinomas (cSCCs).1,2 Dermal fibrosis in DEB is paradigmatic of injury- and inflammation-driven activation of fibrogenic processes2 (and references therein). PMID: ...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin fragility disorder caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the major component of anchoring fibrils (AFs) that ensure dermal-epidermal adherence. From birth, RDEB patients endure lifelong skin and mucosal blistering with both local and systemic complications including aggressive metastatic squamous cell carcinomas (SCC).1 Currently, treatments are only symptomatic although clinical studies of novel therapeutics, including gene2 and cell3 therapies are emerging. One potential safety issue with suc...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
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