Active clinical trials for "Epidermolysis Bullosa Dystrophica"

Dystrophic epidermolysis bullosa hereditaria are genodermatosis responsible for formation of cutaneous bullous lesion arising spontaneously or after mechanical trauma. These lesions are due to mutation on gene COL7A1 coding for collagen VII. There is no treatment available. Cares are consisting to dress lesions and to protect the skin. The investigators have recently observed on patients having residual expression of collagen VII that phenotype severity is modulated by activation degree of dermic metalloproteinase. The investigators have also observed that epigallocatechin-3-gallate (Polyphenon E®) could be regulated this activity. The primary purpose of this study is to assessing the efficacity of Polyphenon E to decrease the number of cutaneous bullosa after four month of treatment. The primary outcome measure is the rate of patient presenting a decrease of 20% or more of the number of cutaneous bullosa. Secondary outcomes are: severity of mucosa impairment, affected cutaneous surface, the average duration of cicatrisation and treatment tolerance. This study foresees the inclusion of 22 patients older than 2 years old in 5 centers. When patients are included, they will be randomized and receive the treatment (or placebo) for 4 months.

Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary skin disease characterized by cutaneous and mucosa fragility. Blister formations and erosions, resulting in chronic wounds and dystrophic scars, lead development of aggressive cutaneous squamous cell carcinoma (cSCC) in young subjects. cSCC in RDEB patients are often recurrent and sometimes aggressive. Although fibrotic and inflammatory microenvironment plays an important role in the tumoral process, specific mechanisms in cSCC of RDEB patients are still unknown. Actually, the only treatment is a wide surgical excision with poor prognostic (80% of death after the first occurrence of cSCC). The objective of the study is to describe the molecular signatures in the cSCC in RDEB patients

The hereditary dystrophic epidermolysis bullosa are genodermatosis responsible of a poor adhesion of the epidermis to the dermis pulling a large mucocutaneous fragility and recurrent spontaneous or posttraumatic bullous detachment. They are caused by mutations in the COL7A1 gene encoding for the collagen VII. No curative treatment is avaible. The main cause of patients death is the development of squamous cell carcinoma, sometimes multiple and paticularly aggressive in repeated healing part. The photodynamic therapy (PDT) is one of technical reference of multiple actinic keratoses lesions for adults, which are also pre-epithelioma lesions. The PDT is well tolerated even by the elderly and requires only a single session. The main objective of this study is to determine the efficiency of the photodynamic therapy in the treatment of epidermic dysplasies for patients affected by dystrophic epidermolysis bullosa (DEB). The secondary objectives are to evaluate the tolerance of this treatment in terms of pain and healing, and to evaluate the contribution of confocal microscopy in the diagnosis of epidermal dysplasia for patients affected by hereditary dystrophic epidermolysis bullosa. The main evaluation criterion is the cutaneous biopsy before and after (M2) a PDT session of an epidermal dysplasia area. The secondary criteria are the evaluation of the pain during the PDT session and the healing of the cutaneous lesion at M0, M2 and M4 (lesion area and healing time) and correlation histology / MC. Each patient with a suspicious lesion will be biopsied. In case of agreement for this protocol, there will be 1 PDT session followed by a consultation of control at 2 and 4 months after the end of treatment.

This is a pilot study designed to see if HP802-247, an investigational treatment with living human skin cells, helps to heal blisters or wounds in subjects with Dystrophic Epidermolysis Bullosa (DEB). The durability of the skin in healed wounds treated with HP802-247 will also be assessed.

Growth is extremely affected in epidermolysis bullosa patients

Phase I / II pilot clinical trial, to evaluate the safety and preliminary efficacy of the systemic infusion of mesenchymal stem cells derived from bone marrow (BM-MSCs) from a haploidentical donor to improve the healing process and / or the mucocutaneous fragility phenotype associated with EBDR.

Skin wounds of Recessive Epidermolysis Bullosa Dystrophica (REBD) involve pain, superinfection, protein-losing, inflammation, and joint contractures are the bed of squamous cell carcinoma. There is no precise data on the kinetics of healing post-bullous erosions but clinical experience suggests that most epidermise in less than a month. Some, however, for unknown reasons, persist for several months. These chronic ulcers (UC), arbitrarily defined for this study as lasting more than three months are a source of major discomfort and could play a decisive role in the morbidity and mortality of the disease. The aim of this study is to evaluate the efficacy of the amniotic membrane on the healing of chronic ulcers REBD on the percentage ulcerated surface re-epithelialised at 12 weeks (M3) from the start of treatment.

Epidermolysis Bullosa (EB) is a group of genetic conditions causing extensive, painful skin blisters and wounds. Four main types of EB are recognised, which all affect the hands but those patients usually requiring hand therapy interventions have Recessive Dystrophic EB (RDEB). The proof of concept study is part of the GLOVE (Generation and evaLuation Of hand therapy deVices for Epidermolysis bullosa) project. The project aims (i) to develop two hand therapy devices; a disposable dressing glove and splint glove to manage blisters, wounds and contractures that occur on the hands of people with RDEB (ii) to design and implement the Hand Therapy Online (HTO) electronic patient record system and (iii) to determine the cost effectiveness of the devices and the HTO system. The proof of concept study focuses on testing the clinical performance and cost effectiveness of the dressing glove when compared with conventional dressings. Recruited GLOVE participants will be invited to participate in the 14 week study, conducted using a quasi-experimental, n-of-1 research design. Patients who have not participated in GLOVE will also be invited to join. Participants will be asked to follow their usual dressing regime for six weeks. At week 7, they will be given several pairs of dressing gloves to replace their usual dressings, or starting to wear the glove if they avoid dressings normally and familiarise themselves. If participants usually wear their gloves to maintain their web spaces, they will wear these on top of the dressing glove to help assess compatibility. Participants will provide feedback twice a week from week 7 on the dressing glove by answering 12 questions (TELER indicators) validated in the Pilot study (REC no: 16/LO/1046) using the HTO system. Data from the HTO system will be used by the Health Economist to determine the dressing glove and HTO's cost effectiveness.

This is an open-label follow up study to evaluate the safety for the subjects with ALLO-ASC-DFU treatment in phase 1/2 clinical trial(ALLO-ASC-EB-101) for 24 months.

A pharmacokinetic (PK) study in 16-20 EB subjects to be allocated to two cohorts. Cohort 1 to include 8-10 subjects (ages 12 yrs and older); Cohort 2 to include 8-10 subjects (ages 6 months-11 yrs, inclusive). Cohort 2 only included subjects 4 yrs and older. Serial PK blood sampling collected on Days 1 and 10. Analyses were performed to determine the concentrations of diacerein and rhein.