View clinical trials related to Epidermolysis Bullosa.
Filter by: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 COL17A1 complementary DNA (cDNA) for restoration of the epidermis in patients with junctional 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 17) in patients suffering of junctional epidermolysis bullosa (JEB) with COL17A1 mutation.
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.
Inherited epidermolysis bullosa (EB) is a genetic skin disorder characterized by skin fragility and recurrent blister formation. More and more evidence has suggested that the skin lesions initially caused by genetic mutations may be further aggravated by inflammatory responses. Several reports showed successful alleviation of EB symptoms upon treatment with immunomodulatory therapies. Modulation of proinflammatory cytokine IL-1β has shown promising results in alleviating epidermolysis bullosa simplex (EBS), a major subtype of inherited EB, by downregulating IL-1β-mediated JNK/MAPK signaling pathway. This data further supports the potential of using cytokine modulators to treat EB. AC-203, a topical formulation, can inhibit the production and activity of IL-1β, down-regulate IL-1β receptors, and increase IL1β-receptor antagonist (IL1-Ra) expression. In addition, AC-203 has been reported to inhibit anti-BP180 autoantibody-induced IL-6/IL-8 upregulation in cultured keratinocytes and LPS-induced IL-6 upregulation in cultured macrophages. Furthermore, AC-203 was also found to inhibit the formation of NLRP3 inflammasome, which plays essential roles in induction of caspase-1-dependent pyroptosis and release of inflammatory cytokines IL-1β and IL-18. These studies demonstrated the cytokine modulatory properties of AC-203 and pointed out the possible application of AC-203 in a variety of inflammatory diseases. This study is designed to test the efficacy, safety, tolerability, and pharmacokinetics of AC-203 ointment (vs. placebo) in patients with inherited EB.
The investigators hypothesize that palmar injections of botulinic toxin, via an inhibition of the sudation, would limit the occurrence of blisters in localized epidermolysis bullosa simplex (LEBS).
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease caused by mutations in the COL7A1 gene that encodes for type VII collagen (C7), the major component of anchoring fibrils (AFs), structures that mediate epidermal-dermal adherence. Thirty percent of RDEB patients have nonsense mutations. The investigators recently demonstrated in 5 such patients that intradermal and topical gentamicin induced "read-through" of their nonsense mutations and created robust and sustained new C7 and AFs at the dermal-epidermal junction (DEJ) of their skin and also stimulated wound closure and reduced new blister formation. No untoward side effects occurred. Herein, the investigators propose evaluating the safety and efficacy of intravenous gentamicin in these patients. In theory, this intravenous administration has the possibility of treating simultaneously all of the patients' skin wounds. The milestones will be increased C7 and AFs in the patients' DEJ, improved EB Disease Activity Scores, and absence of gentamicin side effects.
The primary objective of this study is to evaluate the long term safety and tolerability of diacerein 1% ointment for 2 treatment cycles in subjects with EBS that previously participated in the CCP-020-301 or the CCP-020-101 studies.
The study will compare gene expression differences between blistered and non-blistered skin from individuals with all subtypes of EB, as well as normal skin from non-EB subjects. State of the art computational analysis will be performed to help identify new drugs that might help all EB wound healing and reduce pain. Researchers will focus on drugs that have already been approved for treatment of other dermatologic or non-dermatologic diseases, and therefore be repurposed for treatment of EB. Drug development is a very expensive process taking decades for execution. Drug repurposing on the other hand, significantly reduces the cost and shortens the amount of time that is needed to bring effective treatments to clinical use. To date, there is no specific treatment targeting the physiology and immunologic response in EB patients during wound healing. Market availability of repurposed medications will provide all EB patients rapid access to treatments, thus improving their quality of life.
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.
This survey intends to collect information on key aspects of life with epidermolysis bullosa (EB), including diagnostic journey, treatment, management, daily living challenges, and overall psycho-social, socio-economic, academic and family impact. Objectives: - To understand the unmet needs for people living with EB in the US - To assess the differences/similarities in the management/treatment of EB patients (including wound care, symptom management and other issues) - To assess the EB patients' and caregivers' perceptions of current management/treatment - To assess the challenges and the burden of daily living with EB - To understand EB diagnostic journey (the time to diagnosis and by what type of healthcare provider) - To identify professional disciplines involved in the diagnosis and management of EB - To understand the psycho-social, socio-economic, academic, and family impact of EB