Epidermolysis Bullosa

Researchers are evaluating the efficacy and safety of Apremilast in patients aged 6 years and older with Epidermolysis Bullosa Simplex generalized, a genetic skin condition. This phase 2 open-label study aims to describe how well Apremilast works in reducing symptoms, particularly the occurrence of new blisters, over a 20-week period. Participants will undergo three distinct periods an initial 8-week treatment phase called challenge, followed by a 4-week period without treatment called dechallenge, and a second 8-week treatment phase called rechallenge. During these periods, patients will take Apremilast and have regular visits to the hospital where doctors will perform study procedures and monitor progress. Throughout the study, participants will have seven visits where doctors will check vital signs, perform clinical examinations, review treatment adherence, and monitor for any side effects. Patients will also complete various questionnaires about their condition. The main measure of success is the efficacy of Apremilast at 20 weeks, along with safety assessments. The total study duration for each participant is 20 weeks.

This research aims to evaluate the treatment of deucravacitinib in adults with inflammatory epidermal genodermatoses, including conditions such as Epidermolysis Bullosa Simplex and various ichthyoses. The study focuses on assessing the efficacy and safety of this treatment for these rare skin disorders. It is a phase 2, open-label trial lasting 44 weeks conducted at a single center. Participants will undergo a treatment schedule divided into three periods an initial 16-week treatment challenge period, followed by a 12-week break from treatment dechallenge period, and a second 16-week treatment period rechallenge period. During these phases, participants will receive deucravacitinib and be closely monitored. The study uses a challenge-dechallenge-rechallenge design to evaluate treatment effects. Throughout the study, participants will attend eight visits where doctors will check their vital signs, perform clinical exams, and assess treatment adherence and any side effects. Participants will also complete questionnaires and provide blood samples. Researchers will primarily measure the efficacy of deucravacitinib at week 44 and monitor safety. The total participation duration is 44 weeks, ending with a final evaluation.

This observational study focuses on individuals with Recessive Dystrophic Epidermolysis Bullosa RDEB who were treated with prademagene zamikeracel pz-cel, a gene therapy made from the participants own skin cells and applied surgically to treat wounds. The study aims to evaluate the long-term safety of pz-cel, the durability of wound healing, and the occurrence of any malignancies after treatment in the post-marketing setting. Participants who have received pz-cel treatment will be followed for up to 15 years after their treatment. Assessments will primarily be collected remotely on an annual basis, but if the participants healthcare provider deems it necessary after the first year, some data may be collected during in-person visits. Annual evaluations will include reviewing adverse events, serious adverse events, hospitalizations, evidence of malignancies, potential retroviral infections, wound healing status based on caregiver reports, and any changes in medications or procedures. Throughout the study, participants will provide data annually for up to 15 years post-treatment. Researchers will monitor the number and incidence of treatment-related malignancies, serious adverse events including wound-specific events, and any positive retroviral infection test results. This long-term follow-up aims to understand the safety profile and wound healing durability of pz-cel, with participants contributing data primarily through remote means and occasional in-person assessments as needed.

This research aims to understand the natural history of corneal abrasions in patients with Dystrophic Epidermolysis Bullosa DEB, including both recessive and dominant forms. The study is observational and non-interventional, focusing on how often corneal abrasions occur and their symptoms over time in this patient population. It is sponsored by Krystal Biotech, Inc. and seeks to gather detailed information to better characterize these eye issues in DEB. Participants will not receive any treatment as part of this study. Instead, they will be asked to record their symptoms weekly using remote diaries and complete monthly questionnaires to report on the frequency and duration of corneal abrasions. The study will monitor these patterns over a period of up to one year. During the study, participants will regularly provide information about their eye symptoms through digital symptom diaries and questionnaires. The researchers will track the frequency of corneal abrasions as the main measure and also evaluate symptom severity using a specific eye disease index over the course of the study. The total duration of participation may last up to one year, with no interventional procedures involved.

Researchers are evaluating the efficacy, safety, and tolerability of a topical gel called TCP-25 in patients diagnosed with two types of Epidermolysis Bullosa, specifically Dystrophic and Junctional forms. This Phase 2, double-blind, randomized, vehicle-controlled study uses a design where matching wounds on the same patient are treated with either TCP-25 gel or a placebo gel to compare effects directly. Participants will undergo a Treatment Period lasting 56 days, during which they will apply either TCP-25 gel or placebo gel locally on designated wounds. Study visits occur every two weeks at baseline Day 1, and on Days 14, 28, 42, and 56. After treatment, a Safety Follow-up via telephone or video call is conducted approximately two weeks post last dose. Wound assessments include 3D digital photography and software measurements taken at all scheduled visits. During the study, participants will have evaluations for wound healing, safety, tolerability, and pharmacokinetics. Clinicians capture detailed images of wounds to measure open wound area and monitor changes. Pain levels, treatment-related local reactions, vital signs, and adverse events are regularly assessed. The total participation time includes screening, 56 days of treatment with five clinic visits, and a follow-up call about two weeks after treatment ends.

Researchers are evaluating the effectiveness, safety, and tolerability of a topical gel called TolaSure in adults and children aged 4 years and older with generalized intermediate to severe epidermolysis bullosa simplex EBS. This Phase II clinical study involves 40 patients who will be randomly assigned to receive either TolaSure Gel or a placebo applied daily for 2 months. After this period, all patients will receive TolaSure Gel for another 2 months, followed by a remote follow-up 2 months after treatment ends, totaling 6 months of participation. Participants will apply the study gel to selected areas with active blistering covering approximately 2-3% of their body surface area, with the option to treat their feet throughout the study. The study begins with a randomized, double-blinded phase where patients receive either TolaSure or placebo daily. After 2 months, the placebo group switches to TolaSure for an additional 2 months, while the original TolaSure group continues treatment. Optional skin biopsies may be taken to evaluate tissue changes. During the study, patients will be monitored weekly for changes in blister surface area, especially in treated areas and on the feet. They will also report pain, itch, foot function, and quality of life measures. Safety will be closely followed through physical exams, vital signs, lab tests, and adverse event reporting. The study aims to better understand TolaSures potential to reduce blistering and improve symptoms in EBS over the course of 4 months of treatment plus 2 months of follow-up.

Researchers are evaluating KB803, an ophthalmic suspension containing a modified herpes simplex virus expressing human collagen VII protein, in patients with dystrophic epidermolysis bullosa DEB who experience recurrent corneal abrasions. This Phase 3, double-blind, randomized, placebo-controlled crossover study aims to assess the safety and effectiveness of KB803 compared to a matched placebo in both children and adults with DEB. The study is sponsored by Krystal Biotech, Inc. Participants who have been in the Sponsors natural history study for at least 12 weeks and meet other criteria will be randomly assigned to receive either KB803 or placebo eye drops three times a week for the first 12 weeks. Then, they will switch to the alternate treatment for another 12 weeks. The eye treatments are given at home by a trained person, with monitoring by the study team. During the 24-week study, researchers will monitor safety and tolerability, track the frequency of corneal abrasion symptoms, and assess eye pain. Participants or their guardians will keep weekly symptom diaries and complete monthly questionnaires about symptoms and disease severity. Study staff will regularly check for any side effects or changes in treatment. The total participation lasts 24 weeks with ongoing safety and symptom evaluations.

Researchers are evaluating the safety and effectiveness of Oleogel-S10 gel in treating skin wounds caused by two inherited forms of epidermolysis bullosa EB, called junctional EB JEB and dystrophic EB DEB, specifically in the Japanese population. This trial aims to find out if Oleogel-S10 gel can close wounds or reduce their size within 45 days, assess its safety, and measure how much of the gel enters the bloodstream. Both children and adults are invited to join this study. Participants apply Oleogel-S10 gel to their EB wound dressings at least once every four days for 45 days in Part 1 of the study. They visit the clinic every two weeks for checkups and tests during this period. Those who complete Part 1 may choose to continue in Part 2, where they keep receiving Oleogel-S10 gel until it becomes available for purchase in Japan or until the study is stopped by the company. During the study, participants will have regular clinic visits for examinations and tests to monitor wound healing, safety, and drug exposure. Researchers will evaluate the gels effect on wounds up to 45 days in Part 1 and up to 90 days in Part 2. Safety and tolerability will be assessed throughout the study, which may continue until 2029. Participants will be supervised closely and asked to follow all study instructions and procedures.

This research aims to better understand recessive dystrophic epidermolysis bullosa RDEB, a genetic skin condition causing painful blisters and wounds from minor skin injuries. Researchers are screening patients with RDEB to study their symptoms and cell characteristics to help develop new therapy approaches and identify candidates for future treatment trials. Participants will undergo detailed medical history review, skin and physical examinations, and photographs of wounds. Blood tests will check overall health including Hepatitis B, Hepatitis C, and HIV, with possible genetic testing. Skin biopsies may be taken to assess Collagen 7 and related antibodies. Throughout the study, researchers will collect information to identify suitable patients for ongoing or future clinical trials. The main outcome is identifying RDEB subjects over a period of 10 years. Participant involvement includes medical assessments, laboratory tests, and biopsies as needed, with no treatment provided during this observational study.

Dystrophic Epidermolysis Bullosa DEB is a rare genetic skin disease causing fragile skin that blisters and bleeds easily, with severity ranging from mild to life-threatening. It results from mutations affecting collagen VII, which is essential for skin integrity. This trial evaluates the safety and effectiveness of a new cell-free therapy called Ev.FV, derived from mesenchymal stem cell extracellular vesicles, aiming to promote wound healing and skin regeneration in DEB patients. Participants will receive Ev.FV, a biological product containing five factors, through intravenous doses given six times every two weeks. These nanovesicles carry molecules that can reduce inflammation, stimulate skin cell growth, promote blood vessel formation, and potentially repair the skins anchoring structures. The study focuses on patients with chronic wounds sized between 10 and 50 square centimeters and includes assessments over several months to monitor wound healing and skin condition. During the trial, patients will undergo evaluations including wound closure rates measured at day 14, and skin disease activity scores at multiple time points up to six months. Pain levels will also be tracked using a visual scale over 30 days. Researchers will monitor safety, treatment effects, and how well the wounds heal. The total study duration includes follow-up visits to ensure comprehensive observation of the therapys impact.