Active clinical trials for "Epidermolysis Bullosa"

Growth is extremely affected in epidermolysis bullosa patients

Epidermolysis Bullosa(EB) is an inherited bullous disease. Tetracycline is believed to have anti inflammatory properties. 20 patients with EB older than 13 years will be treated for 4 months with tetracycline or placebo. After one month of wash out they will be treated for additional 4 m with placebo or tetracycline. The patients will be examined each month to estimate bulla formation,rate of healing .

Adult participants will apply a broccoli sprout extract-jojoba oil compound to one arm every night under occlusion for 1 week. Jojoba oil alone will be applied to the other arm. At the end of 1 week, a 6mm punch biopsy will be taken from both arms and analyzed via polymerase chain reaction (PCR) and immunohistochemistry for differences in various skin proteins.

Epidermolysis bullosa simplex type Dowling-Meara (EBS-DM) is one of the most severe subtypes of EBS. Blisters and erosions of the skin and mucous membranes upon minor trauma are the consequence of dominantly inherited mutations in either the keratin 5 (K5) or keratin 14 (K14) gene, which encode proteins constituting the intermediate filament (IF) network in basal keratinocytes . Autosomal dominant mutations lead to a conformational change and an increased self-aggregation of the protein. Upon stress, aggregates present in the periphery of the cytoplasm, subsequently leading to the disintegration and collapse of the IF network. Clinically, patients suffer from blistering of the skin and mucous membranes upon minor trauma, resulting in an impaired life quality due to pain and pruritus . In vitro studies on Dowling-Meara keratinocytes revealed a significant upregulation of the pro-inflammatory cytokine interleukin-1beta (IL-1ß). Apart from paracrine effects of IL-1ß upon wounding (e.g. attraction of lymphocytes, activation of dermal fibroblasts), IL-1ß also activates keratinocytes via the cjun N-terminal kinase (JNK) stress pathway. The activation of this pathway leads to the activation of a number of transcription factors and the enhanced transcription of a number of genes, like matrix metalloproteinases, kallikreins, but also IL-1ß itself and K14 . Interestingly, this state of activation is constitutive and was also found in keratinocytes from non-lesional sites. It seems that the upregulation of IL-1ß and K14 in the presence of dominant Dowling-Meara mutations, results in a positive feedback loop, potentially aggravating the EBS-DM phenotype. This was strongly corroborated by the fact that when impairing IL1ß signaling, using IL-1ß neutralizing antibody (IL-1Ab) or the small molecule diacerein, expression levels of IL-1ß and K14 decreased and keratinocytes were much less susceptible to heat shock in vitro . Furthermore, activation levels of JNK widely correlated with expression levels of K14 and IL-1ß. (Wally V et al, 2013). These findings led to the hypothesis that blocking IL-1ß will also lead to an amelioration of the EBSDM phenotype in effected patients. Based on previous in vitro findings diacerein was chosen to be topically applied in a pilot study with five patients suffering from EBS-DM. In that study , each participant received 1% diacerein-cream for one armpit, and placebo for the other (randomized withdrawal). The number of blisters was reduced significantly (left: -78%; right: -66% of baseline) within two weeks and remained significantly below the initial level even during withdrawal in four patients. These findings pointed to a relevant effect of diacerein and provide important information for our confirmative study. Diacerein is a component of the rhubarb root, which is reported to block the release of active IL-1b by inhibiting plasma membrane-bound IL-1 converting enzyme . Diacerien is already approved for systemic application in osteoarthritis . In general, small molecules (SM) are low molecular weight compounds with biological functions that can influence molecular processes. They allow a symptomatic treatment, offering a short-term benefit for patients in terms of an amelioration of the phenotype. Although this kind of treatment does not correct genetic alterations, it can still be highly beneficial by damping down disease symptoms, thereby increasing life quality and minimizing secondary manifestations. It is important to emphasize that besides dressings, there are currently no other treatments, therefore, investigators do not prevent an accepted treatment for the patient and there is no risk for the participant. The treatment will be given only to the armpits although the disease can involve other areas, so stopping dressings in the armpits during the study does not risk the patient. Should there be any deterioration of the patient, whether it is related to the treatment with diacerein or not, investigators will stop the use of diacerein.

: Epidermolysis bullosa (EB) simplex is a rare orphan disease caused by a mutation in DNA leading to abnormal dominant keratins in the skin. Patients with EB simplex develop lifelong painful thick soles on their feet, and current standard of care is supportive. This pilot study will target the dominant mutant keratin proteins in the skin to ameliorate the severity of EB simplex. The purpose is to improve the function of EB simplex feet with an application of topical sirolimus, 2%. The investigators plan on inhibiting the mTOR pathway to down regulate the translation of defective keratin proteins and work through anti proliferative pathways.

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.

Dowling Meara type of epidermolysis bullosa simplex (EBS-DM) is a rare genodermatosis due to keratin 5 and 14 mutation, characterized by skin fragility and spontaneous or post traumatic blisters. Neonatal period and infancy are critical since this autonomic dominant affection usually improves with age. Cyclins seem to be efficient in some cases of EBS but are prohibited in children younger than 8 years old. Erythromycin can be a good alternative in this population due to its antibacterial and anti-inflammatory potential. The aim of this study is the evaluation of the efficiency of oral erythromycin to decrease the number of cutaneous blisters in severe EBS-DM patients from 6 months to 8 years old after 3 months of treatment. Primary end point is the number of patients with decrease of blisters' number of at least 20% after 3 months of treatment by oral erythromycin. It is a preliminary study on 8 patients. Treatment is oral erythromycin twice a day during 3 months. Follow up for each patient is 5 months. The duration of the study is 1 year.

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.

This study evaluates the clinical effect of foot injection of the bacteria protein Botulinum toxin A on plantar pain in patients with EBS (epidermolysis bullosa simplex) or PC (pachyonychia congenita).

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.