Active clinical trials for "Epidermolysis Bullosa Dystrophica"

The main objective of this prospective, observational, long-term follow-up (LTFU) study is to evaluate the long-term safety profile of the gene therapy products evaluated by Krystal Biotech, Inc. which have a shared backbone of HSV-1, in participants who received at least one dose of investigational product (IP).

Recessive dystrophic epidermolysis bullosa (RDEB) is a subtype of epidermolysis bullosa (EB), an inherited skin condition that presents with blistering skin. The Spincare device, developed by Nanomedic, is the first portable tool that delivers a non-invasive, non-therapeutic electrospun, nanofibrous matrix dressing to wounds to promote healing. The aim of this study is to determine the suitability of this device in RDEB wounds and assess its wound healing properties, safety and tolerability.

A double-blind, randomized, intra-patient placebo- controlled, multiple dose study of PTW-002 evaluating safety, proof of mechanism, preliminary efficacy, and systemic exposure in patients with Dominant Dystrophic Epidermolysis Bullosa (DDEB) or Recessive Dystrophic Epidermolysis Bullosa (RDEB) due to mutation(s) in exon 73 of the COL7A1 gene. Up to two RDEB patients 4 to 17 years of age and up to 6 DDEB patients 4 years of age and older will be enrolled.

In this study, an artificial intelligence model to detect squamous cell carcinomas (SCC) on photos of recessive dystrophic epidermolysis bullosa (RDEB) skin is developed. The ultimate goal is to integrate this model into an app for patients and physicians, to help detect SCCs in RDEB early. SCCs which rapidly metastasize are the main cause of death in adults with RDEB. The earlier an SCC is recognized, the easier it can be removed and the better the outcome. AI leverages computer science to perform tasks that typically require human intelligence and has recently been used to identify skin cancers based on images. We are currently developing an AI approach for early detection of SCC and distinction of malignancy from chronic wounds and other RDEB skin findings. The aim is to create a web application for patients with RDEB to upload images of their skin and get an output as to SCC present/ no SCC. This will be especially valuable for patients with difficult access to medical expertise and those who are hesitant to allow full skin examination at each visit, often because of fear of biopsies. Thus, this project will directly benefit patients by allowing early recognition of SCCs and will empower patients and their families by providing a home use tool. So far, the study team has mainly used professional images (photographs taken in hospital settings by physicians, nurses, and clinical photographers) of both SCCs in RDEB and images of RDEB skin without SCC to develop and train the AI model. The images that are expected in a real-life setting will mostly be pictures taken by patients or family members with their phones or digital cameras. These images have different properties regarding resolution, focus, lighting, and backgrounds. Incorporating such images will be crucial in the upcoming phases of model development-testing and validation-for the web application be a success for patients.

Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by genetic mutations in the gene for type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening subjects with RDEB to evaluate characteristics of the subjects and their cells in order to develop new strategies of therapy and determine whether subjects could be candidates for treatment studies.

Epidermolysis bullosa (EB) is a group of inherited disorders characterized by fragility of the skin and mucous membranes within the basement membrane zone. It is characterized by moderate to excessive fragility of epithelial tissues with prototypic blistering or erosions following minimal trauma (mechanobullous dermatoses). The chronic pain associated with EB, the hardship placed on caregivers, and the high risk for complications places a considerable psychosocial burden on both patients and their families. Despite considerable research to advance the understanding of EB pathophysiology, no treatments have been approved by regulatory authorities to date. Heparan sulfates are key elements of the Extra Cellular Matrix scaffold which act both as linkers, bridging structural matrix proteins such as collagens, laminin and as storage and protector sites to communication peptides, playing a pivotal role in the regulation of cell proliferation, migration and differentiation that are all required for tissue regeneration and repair. CACIPLIQ20 is a bioengineered structural analogue of heparan sulfate glycosaminoglycans. Numerous experimental studies have provided strong evidence that CACIPLIQ20 promotes tissue regeneration by reconstructing the cellular microenvironment following tissue injury. CACIPLIQ20 is currently a class III CE marked medical device (NSAI-0050 CE MARK ECDECNL-A4 (6) and EC Annex II of the directive. NL-A4 (7)) with the following indications: Chronic ulcers showing no tendency to heal after 6 months of standard care, or still unhealed after 12 months: Pressure ulcers. Peripheral arterial disease (such as Stage IV Leriche & Fontaine) ulcers. Diabetic ulcers (including amputation). Preliminary results from several published and unpublished case reports (Al Malak and Barritault, 2012; Bodemer, unpublished observations) suggest that CACIPLIQ20 is safe and can improve wound healing and reduce pain in patients with epidermolysis bullosa. The goal of the MATHBULL study is to confirm preliminary observations in a placebo-controlled double-blind pilot study. The results of this pilot study will help to design a pivotal study.

Prospective open-label, uncontrolled clinical study to assess the safety and efficacy of autologous cultured epidermal grafts containing epidermal stem cells genetically modified with the aid of a gamma-retroviral vector carrying COL7A1 complementary DNA (cDNA) for restoration of the epidermis in patients with recessive dystrophic epidermolysis bullosa. The purpose of this study is to demonstrate the safety and efficacy after one or more treatments with genetically corrected cultured epidermal autograft (Hologene 7) in patients suffering of recessive dystrophic epidermolysis bullosa (RDEB) with COL7A1 mutation.

The objective of this study is to compare the efficacy and safety of RGN-137 topical gel with that of placebo gel for treatment of junctional epidermolysis bullosa (JEB) or dystrophic epidermolysis bullosa (DEB).

Reduced Intensity Conditioning (RIC) and Allogeneic Stem Cell Transplantation (AlloSCT) from family-related donors and unrelated cord blood (UCB) donors will be safe and well tolerated in selected patients with RDEB. To determine the event-free survival (EFS) and overall survival (OS) following RIC consisting of busulfan/fludarabine/alemtuzumab (BFA) and AlloSCT in selected patients with RDEB.

A double-blind, randomized, intra-subject placebo-controlled, multicenter, multiple dose study, evaluating safety, proof of mechanism, preliminary efficacy and systemic exposure in subjects with confirmed DDEB or RDEB diagnosis with one or more pathogenic mutations in exon 73 in the COL7A1 gene.