Materiały źródłowe

• #1 Overview of the management of epidermolysis bullosa – UpToDate

  https://www.uptodate.com/contents/overview-of-the-management-of-epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a heterogeneous group of hereditary mechanobullous diseases characterized by varying degrees of skin and mucosa fragility caused by mutations that affect skin structural proteins. […] There is no targeted therapy for EB, although this is an active area of investigation. The management of patients with EB is largely supportive and includes wound care and prevention and treatment of complications. […] Treatment is largely supportive and includes wound care, control of infection, nutritional support, and prevention and treatment of complications. […] The management of patients with EB involves a multidisciplinary team usually composed of a dermatologist, an EB nurse with specialized expertise in wound care, primary care provider, occupational therapist, nutritionist, and social worker.

• #1

  https://www.nhs.uk/conditions/epidermolysis-bullosa/treatment/

  There’s currently no cure for epidermolysis bullosa (EB), but treatment can help ease and control symptoms. […] Treatment also aims to avoid skin damage, improve quality of life, and reduce the risk of developing complications, such as infection and malnutrition. […] After the initial diagnosis, it’s likely that you and your child will have regular follow-up appointments at a specialist centre so a detailed treatment plan can be drawn up. […] An important part of your child’s treatment plan will be practical advice about how to prevent trauma or friction to your child’s skin to reduce the frequency of blistering. […] Your treatment team will be able to advise about caring for your child’s skin. […] Treatment for skin infections include antiseptic creams or ointments, antibiotic creams or lotions, antibiotic tablets, and specially designed dressings to help stimulate the healing process.

• #1 Epidermolysis Bullosa: Diagnosis, Treatment, and Steps to Take

  https://www.niams.nih.gov/health-topics/epidermolysis-bullosa/diagnosis-treatment-and-steps-to-take

  There is no cure for epidermolysis bullosa. The goals of treatment are to prevent and control symptoms by: […] A topical gene therapy was recently approved for the treatment of wounds in patients ages 6 and older with dystrophic epidermolysis bullosa. […] Your doctor may recommend a pain medication to help manage pain due to blisters and open wounds on the skin or in other areas of the body. […] Skin care is an important part of treating epidermolysis bullosa. Because the blisters can be large, it is important to care for the blisters and wounds to help prevent loss of body fluid from the skin and prevent infection of any wounds. […] To treat infection, your doctor may prescribe oral or topical antibiotics. Wounds that are not healing may require medicated coverings or bandages. […] For some people, scarring can create contractures (abnormal tightening and shortening of muscles, tendons, or ligaments).

• #1 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa has no cure, but mild forms may improve with age. Treatment focuses on caring for blisters and preventing new ones. […] It’s not possible to prevent epidermolysis bullosa. But these steps may help prevent blisters and infection. […] Handle your child gently. Your infant or child needs cuddling, but be very gentle. To pick up a child with epidermolysis bullosa, place the child on soft material and give support under the buttocks and behind the neck. Don’t lift the child from under the arms. […] Take special care with the diaper area. If your child wears diapers, remove the elastic bands and avoid cleansing wipes. Line the diaper with a nonstick dressing or spread it with a thick layer of zinc oxide paste. […] Keep the skin moist. Gently apply moisturizer as needed throughout the day. […] Encourage your child to be active. As your child grows, encourage activities that reduce the risk of skin injury. Swimming is a good option. For children with mild forms of epidermolysis bullosa, they can protect the skin by wearing long pants and sleeves for outdoor activities.

• #1 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  The absence of curative therapies has led to medical management oriented on supportive care, symptom control, and prevention of mild to severe complications. Interdisciplinary management is necessary, guided by the subtype of EB that is diagnosed. […] In epidermolysis bullosa, blisters are prevented by reducing exposure to mechanical trauma. Trauma provoked by cord clamps, clothing labels and seams, plastic patient identifying bands, and heel prick tests should be minimized in neonates. Hot, humid environments may also aggravate fragility. Trauma-preventative dressings placed over body sites are more likely to meet with pressure or friction. Blisters may be pierced with sterile needles and drained, with the blister roof kept intact to minimize pain and prevent microbial colonization. Broken skin can be dressed with specialized non-adhesive foam and lipocolloid dressings.

• #1 Epidermolysis Bullosa | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/epidermolysis-bullosa/

  Unfortunately, there is no cure for epidermolysis bullosa currently. Treatment centers on wound care and managing other symptoms of EB. It is important to remember that there is no one-size-fits-all approach to treating EB. A patient might need all of these approaches, or just a few: […] Frequent bandaging in order to keep blisters clean and protected is a very essential and important aspect of EB care. Some blisters might also need to be lanced (popped open) and drained. […] Medication may be used to treat pain and itching associated with EB. […] Soaking in baths with bleach or pool salt can also be comforting for patients with EB. […] In the event of trouble swallowing and esophageal blistering/scarring, a procedure called a dilatation might be considered in order to widen the esophagus. If the patient is unable to gain weight, a gastrostomy tube can be considered in order for the patient to receive adequate nutrition.

• #1 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  To reduce colonization, antiseptic washes, and ointments may be encouraged. Targeted antibiotic use should be reserved for proven infection, frank cellulitis, and sepsis management. Wound overgranulation may be managed with short-term topical corticosteroid use. […] Squamous cell carcinoma is frequently a devastating complication in epidermolysis bullosa and notably a common cause of early mortality in junctional epidermolysis bullosa and dystrophic epidermolysis bullosa populations. Wide local excision remains the recommended management; however, squamous cell carcinoma in epidermolysis bullosa is aggressive and highly metastatic regardless of conventional tumor histological grading or margin of surgical clearance. […] Very recently, beremagene geperpavec (’B-VEC’), a dosable topical gene therapy delivering COL7A1 using herpes simplex virus type 1 as a vector, has been approved by the FDA as a treatment for dystrophic epidermolysis bullosa. Similarly, Oleogel-S10 (birch triterpene extract), a herbal gel remedy was recently approved by some regulatory authorities for wound management in junctional and dystrophic epidermolysis bullosa.

• #1

  https://www.nhs.uk/conditions/epidermolysis-bullosa/treatment/

  Over-the-counter painkillers, such as paracetamol, might be enough for milder forms of EB. […] For more severe types of EB, stronger painkillers such as morphine may be needed, either for background pain or for procedures like dressings, changes, or bathing. […] Your treatment team can give you advice about how to overcome feeding problems. […] Surgery may be needed to treat some complications that can arise in severe cases of EB. […] Research is being carried out to try to find a cure, or at least more effective treatments, for EB.

• #1 Epidermolysis Bullosa | Types, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/epidermolysis-bullosa

  As of today, there is no cure for EB. There are, however, a lot of treatments that can improve the quality of life for people with EB. […] Bandaging can help healing, prevent infections, and protect skin from injury. […] A healthy diet consisting of extra calories and protein can help the skin heal. […] Physical and occupational therapy services are used to help prevent weakness and loss of function. Adaptations are suggested to help maintain as normal a lifestyle as possible. […] Treatment of EB may require surgery. Examples can include: […] Placement of a feeding tube into the stomach that can improve overall nutrition, which helps with wound healing, growth and development. […] Dilation (widening / opening) of the esophagus if there is a narrowing causing swallowing difficulties.

• #1 Epidermolysis bullosa: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001457.htm

  The goal of treatment is to prevent blisters from forming and avoiding complications. Other treatment will depend on how bad the condition is. […] Follow these guidelines at home: Take good care of your skin to prevent infections. Follow your provider’s advice if blistered areas become crusted or raw. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your provider will let you know if you need a bandage or dressing, and if so, what type to use. You may need to use oral steroid medicines for short periods of time if you have swallowing problems. You may also need to take medicine if you get a candida (yeast) infection in the mouth or throat. Take good care of your oral health and get regular dental check-ups. It is best to see a dentist who has experience treating people with EB. Eat a healthy diet. When you have a lot of skin injury, you may need extra calories and protein to help your skin heal. Choose soft foods and avoid nuts, chips, and other crunchy foods if you have sores in your mouth. A nutritionist can help you with your diet. Do exercises a physical therapist shows you to help keep your joints and muscles mobile.

• #1 Epidermolysis bullosa: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001457.htm

  Surgery to treat this condition may include: Skin grafting in places where sores are deep, Dilation (widening) of the esophagus if there is a narrowing, Repair of hand deformities, Removal of any squamous cell carcinoma (a type of skin cancer) that develops. […] Other treatments for this condition may include: Medicines that suppress the immune system may be used for the autoimmune form of this condition. Protein and gene therapy and the use of the drug interferon are being studied.

• #1 FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-first-topical-gene-therapy-treatment-wounds-patients-dystrophic-epidermolysis-bullosa

  Today, the U.S. Food and Drug Administration approved Vyjuvek, a herpes-simplex virus type 1 (HSV-1) vector-based gene therapy, for the treatment of wounds in patients 6 months of age and older with dystrophic epidermolysis bullosa (DEB) with mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene. […] Vyjuvek is the first FDA-approved gene therapy treatment for DEB, a rare and serious genetic skin disorder, said Peter Marks, M.D., Ph.D., director of the FDAs Center for Biologics Evaluation and Research. […] Vyjuvek is a genetically modified (engineered in a laboratory) herpes-simplex virus used to deliver normal copies of the COL7A1 gene to the wounds. […] Vyjuvek has also been modified to eliminate its ability to replicate in normal cells. Vyjuvek is mixed into an excipient (non-active ingredient) gel prior to topical application. A healthcare professional evenly applies Vyjuvek gel in droplets to a patients wounds once a week.

• #1 Epidermolysis Bullosa Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/1062939-treatment

  Gene therapy. […] The FDA approved the first topical gene therapy for treatment of wounds in patients with dystrophic epidermolysis bullosa (DEB). It is indicated for the treatment of wounds in patients aged 6 months and older with dystrophic epidermolysis bullosa with mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene. […] A topical gel, Filsuvez (birch triterpenes), was approved by the FDA in December 2023 for treatment of wounds in patients aged 6 months and older with junctional and dystrophic epidermolysis bullosa. […] In one clinical trial at the University of Minnesota, bone marrow transplantation was used as the mechanism of delivery of corrective cells. […] Clinical trials of autologous collagen VII overexpressing fibroblast injections in recessive dystropic epidermolysis bullosa patients are currently taking place at both Stanford University and Kings College, London. […] Skin equivalent therapy represents an effective short-term therapy for treating chronic nonhealing wounds associated with epidermolysis bullosa.

• #1 FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-first-topical-gene-therapy-treatment-wounds-patients-dystrophic-epidermolysis-bullosa

  The safety and effectiveness of Vyjuvek was established primarily in a randomized, double-blinded, placebo-controlled study involving a total of 31 subjects with DEB, including 30 subjects with RDEB and one subject with DDEB. […] Efficacy was established by improved wound healing, defined as the difference in the proportion of confirmed complete (100%) wound closure between the Vyjuvek-treated and the placebo-treated wounds at 24 weeks. Sixty-five percent of the Vyjuvek-treated wounds completely closed while only 26% of the placebo-treated wound completely closed. […] In addition, in a different clinical study, two young patients with RDEB (6 and 7 months of age, respectively) received topical Vyjuvek weekly without any new safety findings. […] Patients or caregivers should take the following precautions during treatment with Vyjuvek: Avoid direct contact with treated wounds (e.g., touching and scratching) and dressings of treated wounds for approximately 24 hours following Vyjuvek application.

• #1 Topical Treatment for Epidermolysis Bullosa Wins FDA Approval | MedPage Today

  https://www.medpagetoday.com/dermatology/generaldermatology/107939

  The FDA approved birch triterpenes (Filsuvez) topical gel for the treatment of epidermolysis bullosa (EB), Chiesi Global Rare Diseases announced on Tuesday. […] The topical gel is the first approved treatment specifically indicated for JEB, a rare, moderate-to-severe form of EB that causes blisters beginning in infancy. […] „The FDA’s decision to approve Filsuvez provides those living with EB a safe and effective treatment option for the most prominent and difficult symptom of EB, open wounds that may not heal,” said Brett Kopelan, executive director of debra of America, in the company statement. […] According to the product labeling, birch triterpenes gel should be applied to a wound surface at a thickness of 1 mm and covered by a wound dress until healed. The gel may also be applied directly to the dressing. It should not be rubbed into the wound.

• #1 FDA Approves First Cell-Based Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa

  https://www.asgct.org/Publications/News/April-2025/Pz-cel-gene-therapy-RDEB

  Zevaskyn, also known as pz-cel is the first autologous, cell-based gene therapy for recessive dystrophic epidermolysis bullosa (RDEB). […] I am pleased to share that the FDA has approved prademagene zamikeracel (pz-cel), also known as Zevaskyn, the first autologous, cell-based gene therapy for recessive dystrophic epidermolysis bullosa (RDEB). This landmark approval represents a significant breakthrough for patients suffering from this devastating skin disorder. […] Until recently, treatment options have been limited to wound care and pain management rather than addressing the underlying genetic cause. In 2023, however, FDA approved the gene therapy Vyjuvek, a topical gel that is applied weekly to the skin and contains a modified HSV-1 vector expressing COL7A1. Adding Zevaskyn to the RDEB treatment arsenal is another huge step forward.

• #1 FDA Approves First Cell-Based Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa

  https://www.asgct.org/Publications/News/April-2025/Pz-cel-gene-therapy-RDEB

  Zevaskyn is based on autologous keratinocytes (skin cells) that are genetically engineered to express functional COL7A1. The modified cells are expanded into keratin sheets and grafted directly onto wound areas. This one-time surgical application allows the corrected cells to produce the crucial Type VII collagen that forms anchoring fibrils between the epidermis and dermis. Importantly, the keratin sheet structure can be used to treat large chronic wounds. […] These studies demonstrated that Zevaskyn provided statistically significant improvements in wound healing and pain reduction in large chronic RDEB wounds. The therapy was well-tolerated with no serious treatment-related adverse events observed. Clinical data showed continuous Type VII collagen expression more than two years after treatment. […] This approval not only brings hope to those living with RDEB but also represents significant progress in general for gene-corrected cell therapies for rare genetic disorders.

• #1 EB research – EB-Research

  https://www.eb-researchnetwork.org/research/current-status-of-eb-research/

  EB is a systemic disease, and for some severe subtypes systemic treatments or cures are essential to ensure survival and quality of life. […] Step-change improvements to tissue integrity for EB patients will be made by addressing the underlying defects in the structural proteins. […] Therapeutic strategies explored in clinical studies range from different types of stem cells either donor-derived, or patient-derived and gene-corrected, to corrected fibroblast or keratinocyte treatments, injected intradermally or engineered into skin grafts. […] Symptom-relieving or disease-modifying therapies using small molecular drugs address secondary disease sequelae such as itch, pain, inflammation, fibrosis, or oncogenesis to improve quality of life in affected individuals. […] Therapeutic approaches: Gene therapies and combined gene/cell therapies, Cell- and extracellular vesicle-based therapies, Wound dressings, RNA-based therapies, Protein therapies, Drug therapies.

• #1 Recessive Dystrophic Epidermolysis Bullosa A Review of Disease Pathogenesis and Update on Future Therapies | JCAD – The Journal of Clinical and Aesthetic Dermatology

  https://jcadonline.com/recessive-dystrophic-epidermolysis-bullosa-a-review-of-disease-pathogenesis-and-update-on-future-therapies/

  Gene therapy is perhaps the most promising avenue for treatment of RDEB. The general approach is to obtain a sample of an affected patients skin, harvest the epidermal stem cells, transfer a functional COL7A1 gene into these cells using a viral vector, grow the corrected cells into thin sheets, then graft the sheets over existing wounds. […] Other experiments have demonstrated success with COL7A1 gene transfer in fibroblasts in murine models. […] A therapeutic option perhaps closer to regular clinical application than gene therapy is injection of fibroblasts derived from unaffected donors. […] Bone marrow-derived mesenchymal stem cells have also shown potential for treatment of RDEB. […] Successful preliminary studies where investigators injected purified human C7 protein into RDEB mice have led to optimism for use of this strategy in RDEB patients.

• #1 Gene therapy for Epidermolysis Bullosa | Holostem S.r.l.

  https://www.holostem.com/therapies/gene-therapy-for-epidermolysis-bullosa/?lang=en

  Epidermolysis Bullosa (EB) is a group of genetic adhesion disorders characterized by fragility of the skin. […] Epidermal stem cell-mediated gene therapy would be the only possible therapy, not only for genodermatoses, but also for other types of genetic skin diseases. […] This clinical trial showed that ex vivo gene therapy of JEB is feasible and leads to full functional correction of the disease. […] Holostem is currently running two Phase I/II clinical trials for combined ex-vivo cell and gene therapy for Recessive Dystrophic EB and Col17-JEB, implementing a Phase I/II clinical trial for laminin 332-JEB and developing new gene-editing technologies for the treatment of dominant forms of EB.

• #1

  https://journals.lww.com/idoj/fulltext/2019/10030/newer_treatment_modalities_in_epidermolysis.3.aspx

  Several patient advocacy groups are remarkably active and successful in fund raising; they also fund research projects. […] Both curative and symptom-relief therapies are being developed, as delineated below. […] Gene therapies: At the beginning of the therapeutic era for EB more than 10 years ago, the most obvious consideration was to replace a defective gene with gene therapy. […] Current research on cure of EB focuses on different approaches including the use of gene-corrected patient’s own iPS cells, gene editing technologies, and polymer-mediated DNA delivery systems. […] An interesting option is the so called natural gene therapy which is based on use of cells or tissue derived from revertant mosaic patches in the patient’s skin. […] Cell therapies: have not only led more quickly to clinical studies, but also here the therapeutic context is more complex than initially anticipated.

• #1

  https://journals.lww.com/idoj/fulltext/2019/10030/newer_treatment_modalities_in_epidermolysis.3.aspx

  Current clinical trials are studying the effects of different kinds of MSC in adults with EB. […] Protein therapy: Protein replacement therapies have been successfully developed for a number of genetic diseases and might have potential for EB, too. […] Antisense oligonucleotides: The rationale here is that antisense oligonucleotide treatment of cells can lead to skipping of the mutated exons at the RNA level, and thus restore the synthesis of a nearly normal protein that lacks a small fragment encoded by the deleted exon. […] During the past few years, the complexity of issues relating to development and clinical implementation of curative therapies for EB has become obvious. […] Better understanding of molecular and cellular disease mechanisms in EB has identified novel therapeutic targets and allowed design of symptom relief therapies.

• #1 Epidermolysis Bullosa (EB) Center | Medical School

  https://med.umn.edu/pediatrics/programs-centers-institutes/epidermolysis-bullosa-eb-center

  The University of Minnesota Masonic Children’s Hospital is an international leader in the treatment of epidermolysis bullosa (EB), an often life-threatening skin-blistering disorder. […] While the majority of EB treatments focus on topical therapies, we were the first to explore using bone marrow transplant to provide a whole-body therapy that could address symptoms inside and out. Since 2007, we have treated over 60 patients. […] We primarily treat the most severe forms of recessive dystrophic epidermolysis bullosa and some kinds of junctional epidermolysis bullosa. […] Bone marrow transplant is a complex medical procedure and is not appropriate for every patient. It is a multi-step process that replaces the blood-making cells in a patients body with cells from a donor who does not have the genetic predisposition for epidermolysis bullosa.

• #1 Epidermolysis bullosa: Advances in research and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6900197/

  Currently, no general curative therapy is available for all EB types. In light of the morbidity as well as lethality of numerous subvariants as well as the current availability of largely only symptomatic treatment options, causative therapeutic approaches are therefore urgently required. Such strategies include gene, protein and cell-based therapies. […] Several substances that elicit premature termination codon (PTC) readthrough showed promising results in vitro for specific RDEB and JEB-associated mutations. […] Systemic recombinant human type VII collagen protein administration is another therapeutic approach that is pursued for the treatment of RDEB patients. […] In a prospective, multicentre, phase II trial, we are evaluating the administration of nivolumab (an anti-PD1 monoclonal antibody) for the palliative treatment of patients with DEB who have locally advanced or metastatic squamous cell carcinomas of the skin (SCCS) that have been unresponsive to other systemic therapies.

• #1 Treatment of Epidermolysis Bullosa and Future Directions: A Review | springermedizin.de

  https://www.springermedizin.de/treatment-of-epidermolysis-bullosa-and-future-directions-a-revie/27423484

  Treatment through drug repurposing (repositioning) is gaining attention. The application of existing drugs to target pathogenic mechanisms such as wound healing, inflammation, pruritus, and fibrosis is being considered. This approach is regarded as relatively inexpensive and highly feasible. […] It is pointed out that IL-4/13 inhibitors and JAK inhibitors, which are used to treat atopic dermatitis, show promise for treating pruritus in EB. They may provide new options for managing pruritus and skin lesions in EB. […] Regarding cell therapy, it has been shown that long-term effects are limited, and clinical application has not been achieved. Challenges remain in regenerative medicine approaches. New treatment concepts, such as gene editing and RNA therapy, are emerging but are still in the preclinical stage. They are mentioned as future possibilities.

• #1 Epidermolysis bullosa: Advances in research and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6900197/

  Our preliminary data on hCAP18 mRNA levels in skin tissue samples taken from RDEB patients and RDEB patient-derived keratinocyte cell lines support this hypothesis. […] Based on our results including a promising single-patient observation study, we are currently investigating the potential of improved wound healing in dystrophic EB via increased in vivo expression of cathelicidin and thus enhanced antimicrobial defense by topical administration of calcipotriol in a double-blind, placebo-controlled crossover study. […] Therapeutic approaches to inhibit IL1 could thus be beneficial to patients through reduction of downstream cellular inflammation. […] Based on our in vitro data, we launched a double-blind, randomized, placebo-controlled phase 1 pilot study of topical diacerein 1% cream in 5 patients with EBSgen sev.

• #1

  https://journals.lww.com/idoj/fulltext/2019/10030/newer_treatment_modalities_in_epidermolysis.3.aspx

  Several different topical therapies have been tested in clinical trials for EB, all of them based on evidence from in vitro studies. […] Evidence is accumulating that inflammation plays an important role in EB and aggravates the phenotypes. […] Small molecule drugs which reduce inflammation and fibrosis may be useful to postpone mitten deformities, joint contractures, and internal strictures. […] As a clinical development, an ongoing Phase 1/2 trial explores safety and tolerability of losartan in children with moderate-to-severe DEB. […] It will be intriguing to follow the progress of this therapeutic approach into clinical trials. […] Taken together, based on the above information, we can be optimistic that the repertoire of potential DEB therapies will continue to grow.

• #1 Clinical Trials – EB Research Partnership

  https://www.ebresearch.org/clinical-trials.html

  Several clinical trials are recruiting and/or underway. […] TWi Biotechnology is currently recruiting patients into the EBShield study, a Phase 2/3 Clinical Trial of AC-203 (diacerein 1% ointment) for the treatment of severe and intermediate epidermolysis bullosa simplex (EBS). […] Castle Creek Biosciences is using its proprietary fibroblast technology platform to develop and evaluate D-Fi, an innovative personalized treatment that is compatible with a patients unique biology and delivers functional Type VII collagen (COL7) protein where it is needed at the site of wounds. […] The purpose of this Phase 3 Study is to determine whether administration of D-Fi in addition to standard of care improves wound healing as compared to standard of care alone (control) in children, adolescents, and adults with Dystrophic Epidermolysis Bullosa.

• #1 Clinical Trials – EB Research Partnership

  https://www.ebresearch.org/clinical-trials.html

  Phoenix Tissue Repair is currently recruiting adults with RDEB for their Phase 1/2 trial of PTR-01, a protein replacement therapy that uses recombinant type VII collagen, to assess the therapy’s safety and efficacy. […] Stanford is recruiting individuals with EB aged 13 and above to test the safety and efficacy of Serlopitant in reducing itch. […] Amryt Pharma has completed the EASE Study, a global Phase 3 Clinical Trial of the topical gel FILSUVEZ (previously Oleogel-S10 or AP101), to investigate its safety and efficacy in the treatment of EB wounds in patients with Dystrophic EB, Junctional EB, and Kindler Syndrome. […] Researchers at USC are studying Gentamicin as a therapy for RDEB and JEB causes by nonsense mutations. […] Individuals with a nonsense mutation in the Collagen VII gene may be eligible for this Phase 1/2 Clinical Trial. […] Researchers at the University of Minnesota are seeking participants with severe EB to determine if stem cell transplantation of bone marrow or umbilical cord blood from a healthy donor will correct protein deficiencies and reduce skin fragility.

• #1 Overview of the management of epidermolysis bullosa – UpToDate

  https://www.uptodate.com/contents/overview-of-the-management-of-epidermolysis-bullosa/print

  Epidermolysis bullosa (EB) is a heterogeneous group of hereditary mechanobullous diseases characterized by varying degrees of skin and mucosa fragility caused by mutations that affect skin structural proteins. […] There is no targeted therapy for EB, although this is an active area of investigation. The management of patients with EB is largely supportive and includes wound care and prevention and treatment of complications. […] There is no specific therapy for most forms of epidermolysis bullosa (EB). Treatment is largely supportive and includes wound care, control of infection, nutritional support, and prevention and treatment of complications. […] The management of patients with EB involves a multidisciplinary team usually composed of a dermatologist, an EB nurse with specialized expertise in wound care, primary care provider, occupational therapist, nutritionist, and social worker. Specialists, including gastroenterology, ophthalmology, nephrology, hematology, endocrinology, cardiology, pain management, psychiatry, genetics, plastic surgery, and specialized dentistry, are consulted as needed. This multidisciplinary approach is emphasized by published consensus recommendations for the management of inherited EB.

• #1 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  Oleogel-S10 (Filsuvez) is also showing promise in patients with JEB and DEB. […] Another therapy being investigated in clinical trials is EB-101, consisting of a correct copy of the COL7A1 gene packaged into a retrovirus, which is used to transfer it into the patients’ keratinocytes that were cultured and grown ex vivo. […] Other gene therapies in development for recessive DEB include gene-corrected fibroblasts from the patient. […] The systemic administration of the broad-spectrum antibiotic gentamicin has also been investigated in clinical trial in infants with recessive DEB and generalized JEB, the results of which showed a positive impact on skin fragility. […] Drug repurposing in EB has also been explored with dupilumab (Dupixent), an FDA-approved agent for atopic dermatitis. […] Paller said if all goes well, the next few years may be witness to several effective treatments, which is a very promising outlook for a disease that largely could only be treated symptomatically.

• #1 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  We are finally being able to start looking at pathogenesis-directed approaches for these diseases as we learn more about not just the underlying genetic causes but also some of the pathways involved in the phenotypes that we see, she said. And I think that hopefully over the next 10 years, we are going to have some very good treatments to combine for some of these patients to improve their quality of life.

• #1 Comparing New Therapies for Dystrophic Epidermolysis Bullosa

  https://www.hcplive.com/view/comparing-therapies-dystrophic-epidermolysis-bullosa

  Pz-cel, meanwhile, could be a more tailored option. […] That’s also a gene therapy, using genetically corrected cells derived from patients themselves so it’s a true, personalized approach, Teng explained. […] Teng said all 3 treatments are initially similar in that they would be targeted toward patients with more severe forms of EB; the avenues of care and rates of administration vary greatly, however. […] But the advantage of that kind of approach to some of these data are already in the public domain that the durability of these skin grafts are quite good compared to other products. […] As an at-home, topically-applied agent, B-VEC warrants less focus on treatment initiation with the tradeoff being continued administrations. […] Each agent offers a notable contrast in benefit and feasibility. Teng hopes they complement one another to fulfill the needs in EB. […] I think that all these different therapeutic approaches offer choices and options for patients who are affected to deal with this challenging genetic disorder, she said.

• #2 Overview of the management of epidermolysis bullosa – UpToDate

  https://www.uptodate.com/contents/overview-of-the-management-of-epidermolysis-bullosa/print

  Epidermolysis bullosa (EB) is a heterogeneous group of hereditary mechanobullous diseases characterized by varying degrees of skin and mucosa fragility caused by mutations that affect skin structural proteins. […] There is no targeted therapy for EB, although this is an active area of investigation. The management of patients with EB is largely supportive and includes wound care and prevention and treatment of complications. […] There is no specific therapy for most forms of epidermolysis bullosa (EB). Treatment is largely supportive and includes wound care, control of infection, nutritional support, and prevention and treatment of complications. […] The management of patients with EB involves a multidisciplinary team usually composed of a dermatologist, an EB nurse with specialized expertise in wound care, primary care provider, occupational therapist, nutritionist, and social worker. Specialists, including gastroenterology, ophthalmology, nephrology, hematology, endocrinology, cardiology, pain management, psychiatry, genetics, plastic surgery, and specialized dentistry, are consulted as needed. This multidisciplinary approach is emphasized by published consensus recommendations for the management of inherited EB.

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