Clinical Trials for Epidermolysis Bullosa
Epidermolysis bullosa is a rare genetic skin disorder that causes fragile skin prone to blistering and tearing. Currently, 9 clinical trials are investigating various treatments including topical ointments, gene therapies, cell-based therapies, and systemic medications to improve wound healing, reduce symptoms, and enhance quality of life for patients with different types of this condition.
Clinical trial locations
- Austria
- Belgium
- Croatia
- Czechia
- Denmark
- France
- Study on Diacerein 1% Ointment for Treating Generalized Epidermolysis Bullosa Simplex in Patients Aged 6 Months and Older
- Study on the Effectiveness and Safety of Apremilast for Patients Aged 6 and Older with Generalized Epidermolysis Bullosa Simplex
- Study on the Effects of Deucravacitinib for Adults with Inflammatory Skin Conditions (Epidermolysis Bullosa Simplex and Congenital Ichthyoses)
- Study on ABCB5+ MSCs for Recessive Dystrophic and Junctional Epidermolysis Bullosa Patients
- Study on Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa Using Skin Grafts with Genetically Corrected Autologous Keratinocytes and Fibroblasts
- Study on the Effects of TCP-25 Gel for Wound Healing in Patients with Epidermolysis Bullosa
- Germany
- Greece
- Study on Diacerein 1% Ointment for Treating Generalized Epidermolysis Bullosa Simplex in Patients Aged 6 Months and Older
- Study on ABCB5+ MSCs for Recessive Dystrophic and Junctional Epidermolysis Bullosa Patients
- Study on the Effects of TCP-25 Gel for Wound Healing in Patients with Epidermolysis Bullosa
- Hungary
- Ireland
- Italy
- Study on Diacerein 1% Ointment for Treating Generalized Epidermolysis Bullosa Simplex in Patients Aged 6 Months and Older
- Study on ABCB5+ MSCs for Recessive Dystrophic and Junctional Epidermolysis Bullosa Patients
- Study on the Effects of TCP-25 Gel for Wound Healing in Patients with Epidermolysis Bullosa
- Netherlands
- Poland
- Portugal
- Spain
- Study on Diacerein 1% Ointment for Treating Generalized Epidermolysis Bullosa Simplex in Patients Aged 6 Months and Older
- Study on ABCB5+ MSCs for Recessive Dystrophic and Junctional Epidermolysis Bullosa Patients
- Study on the Effects of TCP-25 Gel for Wound Healing in Patients with Epidermolysis Bullosa
- Sweden
Study on Diacerein 1% Ointment for Treating Generalized Epidermolysis Bullosa Simplex in Patients Aged 6 Months and Older
This trial is testing Diacerein 1% Ointment, a topical treatment applied directly to the skin to reduce inflammation and improve healing in patients with Generalized Epidermolysis Bullosa Simplex. The study is designed as a double-blind trial, meaning neither participants nor researchers will know who receives the active treatment versus placebo during the initial 8-week treatment period.
Main inclusion criteria: Participants must be at least 6 months old with a confirmed diagnosis of severe or intermediate generalized form of the condition through genetic testing showing mutations in the KRT5 or KRT14 genes. Lesions must cover at least 5% of the body surface (excluding hands and feet) and have a severity score of 3 or higher. Female participants of childbearing age must use reliable contraception and have a negative pregnancy test before starting.
Main exclusion criteria: Patients with other types of skin conditions, those younger than 6 months, individuals with serious health issues that might interfere with the study, those unable to follow study procedures, pregnant or breastfeeding women, and those with allergies to the study medication are excluded.
Trial focus: The study aims to evaluate whether Diacerein 1% Ointment can effectively reduce the severity of symptoms, including blistering and skin irritation, over the 8-week treatment period. Researchers will monitor wound healing, changes in pain and itching, and overall quality of life improvements.
Investigational drug: Diacerein 1% Ointment works by inhibiting the production of inflammatory substances in the body, potentially helping to reduce skin inflammation and blistering in this genetic skin disorder.
Study on the Effectiveness and Safety of Apremilast for Patients Aged 6 and Older with Generalized Epidermolysis Bullosa Simplex
This clinical trial evaluates Apremilast (brand name Otezla), an oral medication taken as film-coated tablets, for treating Generalized Epidermolysis Bullosa Simplex. The study follows a challenge-dechallenge-rechallenge design over 20 weeks to understand how the medication works over time.
Main inclusion criteria: Participants must be 6 years or older with a confirmed diagnosis caused by mutations in the KRT5 or KRT14 genes. Patients should experience an average of more than 3 new blisters daily and agree not to use any topical skin treatments unless approved by the study doctor.
Main exclusion criteria: Those younger than 6 years, individuals without a confirmed diagnosis, and members of vulnerable populations requiring special protection are excluded.
Trial focus: The study assesses how well Apremilast reduces blister formation and evaluates its safety profile. Researchers will monitor the severity of the condition, levels of itching and pain, dressing duration, quality of life, and treatment compliance. The trial also aims to validate a new severity scale specifically for patients with this condition.
Investigational drug: Apremilast is a phosphodiesterase 4 (PDE4) inhibitor that works by reducing inflammation in the body. The maximum daily dose is 60 milligrams, taken orally for up to 16 weeks.
Study on the Effects of Deucravacitinib for Adults with Inflammatory Skin Conditions (Epidermolysis Bullosa Simplex and Congenital Ichthyoses)
This 44-week trial studies Deucravacitinib, a selective tyrosine kinase 2 (TYK2) inhibitor, in adults with inflammatory epidermal genodermatoses, including Epidermolysis Bullosa Simplex and inflammatory congenital ichthyoses. The medication is provided as a 6 mg film-coated tablet taken orally.
Main inclusion criteria: Participants must be over 18 years old with a laboratory-confirmed diagnosis of either condition caused by mutations in specific genes (KRT5, KRT14 for the simplex form, or KRT1, KRT10 for keratinopathic ichthyosis, or diagnosis of congenital ichthyosiform erythroderma).
Main exclusion criteria: Individuals without the specified conditions, those outside the adult age range, and members of vulnerable populations are excluded.
Trial focus: The study evaluates the effectiveness and safety of Deucravacitinib using a challenge-dechallenge-rechallenge approach. It monitors skin condition severity, itch, pain, and overall quality of life. Researchers also analyze baseline and functional cytokine profiles to understand the body’s response to treatment.
Investigational drug: Deucravacitinib works by inhibiting specific enzymes involved in the inflammatory process, thereby reducing symptoms of these chronic inflammatory skin disorders.
Study on ABCB5+ MSCs for Recessive Dystrophic and Junctional Epidermolysis Bullosa Patients
This large international trial tests allo-APZ2-OTS, a treatment involving ABCB5-positive mesenchymal stromal cells derived from skin, administered through intravenous infusion. The study includes both a placebo-controlled phase and an open-label extension where all participants receive the treatment.
Main inclusion criteria: Participants of any age from birth onward must have a confirmed diagnosis of Recessive Dystrophic Epidermolysis Bullosa (RDEB) or Junctional Epidermolysis Bullosa (JEB) through genetic testing or skin biopsy. They must weigh at least 5 kg (about 11 pounds) and meet specific laboratory values for blood counts, liver function, kidney function, and oxygen levels. A target wound between 5 and 50 square centimeters that is less than 9 months old and shows no signs of infection is required. Women of childbearing age and their male partners must use highly effective contraception.
Main exclusion criteria: Patients with other serious health conditions that could interfere with the study, those currently in another trial, individuals with recent infections, pregnant or breastfeeding women, those with allergies to similar treatments, people unable to follow study procedures, those who received interfering medications, individuals with substance abuse history, and those with mental health conditions affecting participation are excluded.
Trial focus: The study aims to evaluate whether this cell-based therapy can help close wounds, reduce pain and itching, and improve overall quality of life. Researchers will monitor wound healing progress, general health, and any potential immune reactions to the treatment throughout the study period.
Investigational treatment: ABCB5-positive mesenchymal stromal cells are believed to aid in skin repair and regeneration by helping to strengthen the skin and making it less prone to damage.
Study on Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa Using Skin Grafts with Genetically Corrected Autologous Keratinocytes and Fibroblasts
This innovative Phase I/II gene therapy trial uses skin grafts made from patients’ own skin cells that have been genetically modified to correct the COL7A1 gene. This gene is responsible for producing type VII collagen, a protein that helps hold skin layers together.
Main inclusion criteria: Participants must be 18 years or older with a clinical and molecular diagnosis confirmed by genetic testing showing mutations in both copies of the COL7A1 gene. Skin biopsy must show significantly reduced C7 protein staining, reduced numbers or abnormal shapes of anchoring fibrils, and presence of the non-collagenous-1 domain of C7 protein. Patients need at least 100 square centimeters of blistered or open-sore skin suitable for grafting and must be able to undergo anesthesia.
Main exclusion criteria: Those without RDEB, individuals outside the specified age range, and members of vulnerable populations are excluded.
Trial focus: The primary goal is to evaluate the safety of this gene therapy approach. Participants will be monitored for five years with regular check-ups including skin examinations, biopsies to assess C7 protein expression and anchoring fibril morphology, and blood tests for anti-C7 antibodies and immune responses. Researchers will also assess wound healing, changes in blister numbers, scar quality, itchiness, and quality of life.
Investigational treatment: The genetically corrected skin graft uses a retroviral vector to deliver a healthy copy of the COL7A1 gene into patients’ skin cells, enabling them to produce functional collagen VII essential for skin integrity.
Study on Rigosertib Sodium for Patients with Recessive Dystrophic Epidermolysis Bullosa and Advanced Squamous Cell Carcinoma
This trial specifically targets patients with Recessive Dystrophic Epidermolysis Bullosa who have developed advanced Squamous Cell Carcinoma that has not responded to standard treatments. The study tests Rigosertib Sodium in both intravenous and oral forms.
Main inclusion criteria: Participants must be between 18 and 79 years old with RDEB confirmed by genetic testing or skin biopsy. They must have unresectable (cannot be surgically removed), locally advanced, or metastatic Squamous Cell Carcinoma that has not responded to standard treatments including surgery, radiotherapy, traditional chemotherapy drugs, or newer treatments like immune checkpoint inhibitors. Patients must not be receiving any other cancer treatment and must have measurable disease according to RECIST 1.1 guidelines.
Main exclusion criteria: Those without RDEB-associated advanced Squamous Cell Carcinoma, individuals outside the age range, those unable to follow study procedures, people with other interfering medical conditions, pregnant or breastfeeding women, those in concurrent trials, individuals who recently had or are planning major surgery, those with allergies to the study medication, and patients not recovered from previous treatment side effects are excluded.
Trial focus: The study evaluates the safety and effectiveness of Rigosertib Sodium over 52 weeks, monitoring tumor response through CT or MR scans, quality of life impacts, and biological markers related to the pathways affected by the medication.
Investigational drug: Rigosertib Sodium works by inhibiting certain cancer-related pathways. The oral form involves taking capsules daily for three weeks followed by a one-week break. The intravenous form is administered as a 72-hour continuous infusion on days 1-3 of treatment cycles.
Study on the Effects of TCP-25 Gel for Wound Healing in Patients with Epidermolysis Bullosa
This Phase 2 trial tests TCP-25 Gel, a topical treatment containing a special protein designed to promote wound healing in patients with Dystrophic Epidermolysis Bullosa (DEB) or Junctional Epidermolysis Bullosa (JEB). The study is designed as a double-blind trial comparing the active gel with a vehicle gel containing no active ingredient.
Main inclusion criteria: Patients must have documented diagnosis of DEB or JEB confirmed by genetic testing or skin biopsy with immunofluorescence mapping. Initially enrolling patients 12 years and older, with enrollment of ages 4-11 planned after a safety review of adolescent participants. Patients must have at least one pair of similar wounds or one large wound that can be divided for comparison purposes.
Main exclusion criteria: Those without a diagnosis of the specified conditions, individuals outside the age range, people unable to follow study procedures, those with conditions interfering with results, pregnant or breastfeeding women, participants in concurrent trials, individuals with allergies to the treatment, and those with unsafe medical conditions are excluded.
Trial focus: The primary goal is to assess wound healing by measuring the change in open wound area by Day 56 compared to baseline. Researchers also evaluate safety and tolerability by monitoring adverse events, vital signs, and local reactions. Secondary assessments include changes in procedural pain, overall treatment area appearance, and plasma concentrations of TCP-25.
Investigational drug: TCP-25 Gel is designed to enhance skin repair processes when applied directly to wounds, potentially improving healing rates and skin integrity in these challenging conditions.
Study on the Safety of Allogeneic Adipose Tissue-Derived Mesenchymal Stromal Cells for Patients with Epidermolysis Bullosa
This Phase I/II trial evaluates the safety of allogeneic adipose tissue-derived mesenchymal stromal cells, special cells taken from donated fat tissue and injected into the skin. The study includes both an active treatment group and a placebo group.
Main inclusion criteria: Participants must be older than 2 years with a clinical diagnosis of hereditary epidermolysis bullosa confirmed by electron microscopy, immunofluorescence antigen mapping, and DNA analysis. The disease must affect at least 10% of the body surface. Those of childbearing potential must agree to use specific contraception methods during the study and for at least six months after the last dose. Participants must be willing to follow wound care rules and attend all scheduled visits and tests.
Main exclusion criteria: Those with other serious health conditions that could interfere, people currently in another trial, individuals with recent infections or illness affecting results, pregnant or breastfeeding women, those with allergic reaction history to similar treatments, people unable to follow procedures or attend required visits, individuals with immune system conditions making them vulnerable to infections, and those who received interfering medications or treatments are excluded.
Trial focus: The study primarily assesses safety by monitoring for severe local reactions at injection sites, systemic allergic reactions, and infectious complications. Secondary measures include changes in non-healed lesion areas and patient-reported outcomes such as itching and ease of wound dressing changes. The trial continues until August 2025.
Investigational treatment: These cells are administered through intradermal injections (into the skin) and are believed to aid in tissue repair and regeneration by modulating immune response and promoting healing processes.
Summary
The current landscape of clinical trials for epidermolysis bullosa demonstrates significant research activity across Europe, with France participating in the highest number of studies (6 trials), followed by several other European countries including Austria, Greece, Italy, and Spain. This geographical concentration reflects specialized expertise centers for rare genetic skin disorders.
The research approaches vary considerably, from topical treatments like Diacerein 1% Ointment and TCP-25 Gel that directly target wound healing and inflammation, to systemic oral medications such as Apremilast and Deucravacitinib that address inflammation throughout the body. Innovative cell-based therapies using mesenchymal stromal cells represent another promising avenue, with multiple trials investigating their regenerative potential. Perhaps most groundbreaking is the gene therapy approach that attempts to correct the underlying genetic defect by delivering functional genes into patients’ own skin cells.
The trials address different subtypes of the condition, with some focusing on the simplex form while others target the more severe dystrophic and junctional variants. Age ranges also vary widely, from infants as young as 6 months to adults, reflecting the lifelong nature of these conditions. One specialized trial addresses the serious complication of squamous cell carcinoma that can develop in patients with the dystrophic form.
These diverse research efforts offer hope that multiple treatment options may become available in the coming years, potentially improving quality of life for those living with this challenging group of genetic skin disorders.
