Epidermolysis Bullosa Market Insight, Epidemiology And Market Forecast - 2032

Key Highlights

• Epidermolysis bullosa qualifies as a rare disease, making it eligible for orphan drug status in many regions. This designation provides companies with various incentives, including extended market exclusivity and regulatory support, encouraging investment in research and development.
• Among all the variants of EB, DEB is the most devastating and demands immediate attention in the search for effective treatment and management options.
• In type-specific cases more than 60% of prevalent cases were observed in epidermolysis bullosa simplex, and only 5% were found in junctional epidermolysis bullosa in 2022.
• There are limited effective therapies currently available for EB patients. Treatment and management options primarily focus on providing support, such as wound care, pain and itch management, infection control, nutritional support, and prevention and treatment of associated complications.
• Stem cell-based therapies are gaining significance, particularly for diseases that were previously considered incurable. ABCB5+ mesenchymal stromal cells (ABCB5+ MSCs) are noteworthy for their special immunomodulatory and anti-inflammatory properties, making them a promising therapeutic option for various chronic inflammatory diseases, including epidermolysis bullosa.
• In terms of overall cell therapies development Japan is a bit ahead of other countries among the 7MM, and in December 2018, Japan became the first country where the first cell therapy for epidermolysis bullosa got approved as Fujifilm subsidiary Japan Tissue Engineering received government approval to culture and sell Autologous Cultured Epidermis JACE for Epidermolysis Bullosa in Japan.
• In 2022, the market size of epidermolysis bullosa was highest in the US among the 7MM, accounting for approximately USD 1,300 million, which is further expected to increase by 2032.
• Currently, there are three different therapies approved for Epidermolysis Bullosa (EB) in the United States, European Union, and Japan, respectively. This underscores the significant unmet medical needs for EB patients in these regions.
• Krystal has taken the lead in the race for gene therapy treatments for Epidermolysis Bullosa (EB) by securing FDA approval for VYJUVEK, which is effective for both the recessive and dominant forms of the condition.
• Despite these approvals, there is still a long way to go in meeting all the needs of EB patients, and further research and development are essential to improve treatment options and ultimately enhance the quality of life for individuals living with EB worldwide.

This “Epidermolysis Bullosa - Market Insights, Epidemiology and Market Forecast - 2032” report delivers an in-depth understanding of the Epidermolysis Bullosa, historical and forecasted epidemiology as well as the Epidermolysis Bullosa market trends in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.

The Epidermolysis Bullosa market report provides current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted 7MM Epidermolysis Bullosa market size from 2019 to 2032. The report also covers current Epidermolysis Bullosa treatment practices/algorithms and unmet medical needs to curate the best opportunities and assess the market's underlying potential.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2019-2032

Epidermolysis Bullosa Disease Understanding and Treatment Algorithm

Epidermolysis Bullosa Overview

Epidermolysis Bullosa (EB) is genetic skin disorder characterized by extreme skin fragility and blistering in response to minimal friction or trauma. The condition is caused by genetic mutations that affect the proteins responsible for maintaining the structural integrity of the skin. The severity of EB can vary widely, ranging from mild to life threatening, depending on the specific subtype.

Epidermolysis Bullosa Diagnosis

The patient journey of Epidermolysis Bullosa (EB) begins with the onset of symptoms, such as frequent skin blistering and slow wound healing. Concerned caregivers seek medical attention, leading to a clinical examination by a healthcare professional to assess skin fragility and blister distribution. Skin biopsy and genetic testing are performed to confirm the diagnosis and classify the specific EB subtype. Upon diagnosis, a multidisciplinary management plan is developed, involving dermatologists, wound care specialists, nutritionists, and physiotherapists. Emotional support and counseling are provided to cope with the challenges of living with EB. Long-term care and regular follow-ups are necessary to monitor skin health and prevent complications. Access to medical resources and expertise can influence the journey's duration and outcomes. Early diagnosis is crucial for timely intervention and improving the patient's quality of life.

Further details related to diagnosis are provided in the report…

Epidermolysis Bullosa Treatment

Treatment for Epidermolysis Bullosa (EB) primarily focuses on symptom management and complication prevention. This includes implementing wound care, infection control, pain management, and providing appropriate nutritional support. For individuals with severe EB, specialized dressings, bandages, and protective clothing may be necessary to minimize skin trauma. Surgical intervention might also be required to address complications like hand deformities.

Epidermolysis bullosa can be treated with corticosteroids, which effectively reduce itching. However, extended use of topical or oral corticosteroids may suppress the hypothalamic-pituitary axis, which can be more common in children.

Since Epidermolysis bullosa is rare, it is usually difficult to get commercial pharma interest to pursue this therapy area. Currently, only three therapies have been approved; therefore, as per the current situation, effective and targeted treatment remains a significant unmet need to treat this disease.

Epidermolysis Bullosa Epidemiology

As the market is derived using a patient-based model, the Epidermolysis Bullosa epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by total prevalent cases of Epidermolysis Bullosa, total diagnosed prevalent cases of Epidermolysis Bullosa, Epidermolysis Bullosa by gender, Epidermolysis Bullosa by age, and Epidermolysis Bullosa by Type-specific in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain), United Kingdom, and Japan from 2019 to 2032. The total prevalent cases of Epidermolysis Bullosa in the 7MM comprised approximately 46,500 cases in 2022 and are projected to increase during the forecasted period.

• The total number of prevalent cases of Epidermolysis Bullosa in the United States was around 30,800 cases in 2022.
• The United States contributed to the largest prevalent cases of Epidermolysis Bullosa, accounting ~65% of the 7MM in 2022. Whereas EU4 and the UK, and Japan accounted for around 30% and ~5% of the total population share, respectively, in 2022.
• Among the EU4 countries and the UK, the United Kingdom accounted for the largest number of Epidermolysis Bullosa cases, followed by Germany, whereas Spain accounted for the lowest number of cases in 2022.
• According to the publisher's estimates, in the United States, there were around 17,800, 1,400, and 8,400 cases of epidermolysis bullosa simplex, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa respectively, in 2022.
• Among the gender-specific case of Epidermolysis Bullosa, male accounted for ~21,000 cases, while female account for ~20,000 cases in the7MM.

Epidermolysis Bullosa Drug Chapters

The drug chapter segment of the Epidermolysis Bullosa report encloses a detailed analysis of Epidermolysis Bullosa marketed drugs and late-stage (Phase III and Phase II) pipeline drugs. It also helps understand the Epidermolysis Bullosa pivotal clinical trial details, recent and expected market approvals, patent details, advantages and disadvantages of each included drug, the latest news, and recent deals and collaborations.

Marketed Drug

VYJUVEK (beremagene geperpavec): Krystal Biotech

B-VEC is an non-invasive, topical, redosable gene therapy designed to deliver two copies of the COL7A1 gene when applied directly to DEB wounds. B-VEC was designed to treat DEB at the molecular level by providing the patient's skin cells the template to make normal COL7 protein, thereby addressing the fundamental disease-causing mechanism. VYJUVEK is the first-ever redosable gene therapy and the first and only medicine approved by the FDA for the treatment of DEB, both recessive and dominant, that can be administered by a healthcare professional in either a healthcare professional setting or in the home.

JACE (human epidermal cell sheet): Japan Tissue Engineering

JACE is a combination product. Its primary constituent is a human (autologous) epidermal cell sheet produced using Green's technique. For the production of the cultured autologous epidermal cell sheet, keratinocytes are isolated from a postage-stamp-sized piece of a patient's skin tissue and are co-cultured with mouse embryo-derived 3T3-J2 cells as a feeder. The cultured keratinocytes are grown into a sheet. The secondary constituent of the product is a tube (filled with tissue transport medium) used to transport skin tissue harvested from the patient to the manufacturer of JACE.

JACE is a regenerative medical product to be applied onto an erosion or ulcer in patients with epidermolysis bullosa (EB) for the closure and early epithelialization of the wound, as with medical devices such as wound dressings.

Emerging Drug

EB-101: Abeona Therapeutics

EB-101 is an autologous, engineered cell therapy currently being developed to treat Recessive Dystrophic Epidermolysis Bullosa (RDEB), a rare connective tissue disorder without an approved therapy. Treatment with EB-101 involves using gene transfer to deliver the COL7A1 gene into a patient's skin cells (keratinocytes and its progenitors) and transplanting those cells back to the patient. EB-101 is being investigated for its ability to enable normal Type VII collagen expression and to facilitate wound healing. EB-101 has the potential to be the first approved therapy for RDEB and the only durable treatment to address large chronic wounds, which are the most painful and debilitating.

The pivotal Phase III VIITAL study evaluated the efficacy, safety, and tolerability of EB-101 in RDEB patients. The VIITAL study met its two co-primary efficacy endpoints demonstrating statistically significant, clinically meaningful improvements in wound healing and pain reduction in large chronic RDEB wounds.

PTR-01: BridgeBio (Phoenix Tissue Repair)

Phoenix Tissue Repair is an affiliate company of BridgeBio and is focused on advancing a novel systemic treatment for recessive dystrophic epidermolysis bullosa (RDEB). PTR-01 is an investigational protein replacement therapy using recombinant collagen type VII (rC7) to treat RDEB. PTR-01 is designed to be systemically available through IV delivery. Phoenix Tissue Repair acquired worldwide rights to PTR-01 in 2017. Preclinical studies of PTR-01 have demonstrated C7 staining in basement membranes with de novo anchoring fibril formation and improved survival in models of RDEB. In May 2022, BridgeBio announced data from the Phase II trial of PTR-01 in patients with RDEB. The company also stated that Phoenix Tissue Repair has initiated a Phase II extension study.

Note: Detailed emerging therapies assessment will be provided in the final report.

Drug Class Insights

Gene therapies for epidermolysis bullosa are now becoming a reality with the approval of VYJUVEK, the first FDA-approved topical gene therapy. Abeona has also generated compelling data from its gene therapy, EB-101, which operates similarly to VYJUVEK by introducing COL7A1 into the body. Although Krystal is one year ahead of Abeona in its development process, there is impending competition between the two therapies. In November 2022, Abeona Therapeutics announced positive topline data from its pivotal Phase III VIITAL study assessing the safety and efficacy of EB-101 for the treatment of patients with RDEB.

Promising investigational gene therapies like oleogel-S10 (Filsuvez) are currently being studied for patients with JEB (Junctional Epidermolysis Bullosa) and DEB (Dystrophic Epidermolysis Bullosa). This therapy contains a birch bark extract with a high concentration of betulin, which is believed to aid in wound healing by regulating the inflammatory response and promoting the repair of keratinocytes. Already authorized for treating EB in Europe, the topical gel has successfully achieved its main objectives in double-blind randomized trials. There is a strong possibility that it will soon obtain FDA approval in the near future.

Castle Creek Biosciences' D-Fi, also known as FCX-007 is yet another gene therapy candidate aiming at a dystrophic variety of the disease, caused by mutations in the COL7A1 gene. D-Fi is currently in Phase III clinical development for the localized treatment of chronic wounds in individuals with RDEB.

Another gene therapy being developed for recessive Dystrophic Epidermolysis Bullosa (DEB) involves using gene-corrected fibroblasts derived from the patient. In this approach, the defective cells are taken from the patient and the correct gene is introduced into them. These corrected cells are then injected into the patient's skin every 3 to 6 months. The aim is for these injected cells to produce new collagen VII, which is the protein essential for maintaining skin integrity and preventing blister formation in DEB patients. The initial results from preliminary trials seem promising, suggesting that this therapy could provide long-lasting benefits to individuals suffering from recessive DEB.

The two cell therapies at the bottom ranks are ISN001, a Phase III product by Ishin Pharma, and ALLO- RV-LAMB3-transduced epidermal stem cells, developed by Holostem Terapie Avanzate and currently in Phase II/III.

Since Epidermolysis bullosa is rare, it is usually difficult to get commercial pharma interest to pursue this therapy area. Currently, only three therapies have been approved; therefore, as per the current situation, effective and targeted treatment remains a significant unmet need to treat this disease.

Epidermolysis Bullosa Market Outlook

There is no cure for any of the subtypes of epidermolysis bullosa resulting from different mutations, and current therapy only focuses on the managing wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Management of epidermolysis bullosa focuses on supportive and wound care, prevention of blistering and infection, symptomatic relief of pain and itch, and prevention, monitoring, and treatment of complications. Wound care remains the cornerstone of treatment and includes the use of semi-occlusive, protective bandages to the affected area to decrease pain and reduce and prevent blistering, scarring, and infection. Dressing changes and wound care can be time-consuming and expensive, making them burdensome to patients and caregivers. For many patients with RDEB, wound care requires more than 4 h per day. Due to the comprehensive and lifelong care needed, the clinical and economic burden can be high for patients and healthcare systems.

Promising approaches have been developed in the fields of protein and cell therapies, including allogeneic stem cell transplantation; in addition, the application of gene therapy approaches has become a reality.

In the race for gene therapy treatments for epidermolysis bullosa (EB), Krystal has gained an advantage as it has already received FDA approval for VYJUVEK in both recessive and dominant forms of the condition. On the other hand, Abeona and Castle Creek Biosciences have pursued more conventional gene therapy approaches with their candidates, EB-101 and D-Fi, respectively, both targeting REB.

Shionogi and Ishin Pharma are exclusively conducting their development efforts in Japan. Shionogi's Redasemtide is currently undergoing Phase II trials for DEB. The company is in discussions with the Pharmaceuticals and Medical Devices Agency (PMDA) to seek drug approval based on the results of the Phase II trial and the follow-up study.

Despite the challenges, the focus remains strong among epidermolysis bullosa specialists and researchers who are deeply engaged in researching new treatment modalities. Further investigation is crucial for this patient population, given the severe impact of epidermolysis bullosa on their quality of life and life expectancy, particularly when complicated by chronic wound infections or sepsis. The commitment to finding effective treatments for epidermolysis bullosa persists, emphasizing the urgency of continued research efforts.

As per the publisher's estimates, the potential drugs that can mark a significant change in the forecast period includes JACE, FILSUVEZ, VYJUVEK, PTR-01, RV-LAMB3-transduced epidermal stem cells, and others.

• The total market size of Epidermolysis Bullosa in the 7MM is approximately USD ~1,500 million in 2022 and is projected to increase during the forecast period (2023-2032).
• The market size in the 7MM expected to increase at a CAGR of ~7.5% due to increasing awareness of the disease and the launch of the emerging therapy.
• Among EU4 countries, Germnay accounts for the maximum market size in 2022, while Spain occupies the bottom of the ladder.
• In Japan, the highest revenue among current therapies included by supportive treatment, followed by JACE.
• The majority of therapies that are being evaluated for Epidermolysis Bullosa are in the late Phase (III,II) of development. Hence, the pipeline's potential Phase III drug includes EB-101 by Abeona Therapeutics.

Epidermolysis Bullosa Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2019-2032. In Epidermolysis Bullosa, Abeona Therapeutics is the emerging player developing EB101, with a fast uptake, with a probability-adjusted peak share of 13%.

Epidermolysis Bullosa Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III, Phase II, and Phase I stage. It also analyzes key players involved in developing targeted therapeutics.

Pipeline Development Activities

The report covers information on collaborations, acquisitions and mergers, licensing, and patent details for Epidermolysis Bullosa emerging therapy.

KOL Views

To keep up with current market trends, we take KOLs and SMEs' opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on Epidermolysis Bullosa evolving treatment landscape, patient reliance on conventional therapies, patient's therapy switching acceptability, and drug uptake, along with challenges related to accessibility, include Medical/scientific writers; Dystrophic Epidermolysis Bullosa Research Association of America; Dermatologist and Professors; MD, National Epidermolysis Bullosa Registry, and Center for Blistering Diseases, St John's Institute of Dermatology, NHS Foundation Trust,Departments of Dermatology,and others.

This analysts connected with 30+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. Centers such as Center for Blistering Diseases, Department of Allergology and Dermatology, Department of Dermatology, Medical Center, etc., were contacted. Their opinion helps understand and validate current and emerging therapy treatment patterns or Epidermolysis Bullosa market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Qualitative Analysis

The publisher performs Qualitative and market Intelligence analysis using various approaches, such as SWOT analysis and Analyst views. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst's discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

The analyst views analyze multiple emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry.

In efficacy, the trial's primary and secondary outcome measures are evaluated; for instance, in Epidermolysis Bullosa trials, progression-free survival is one of the most important primary outcome measures.

Further, the therapies' safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials.

Market Access and Reimbursement

Reimbursement is a crucial factor that affects the drug's access to the market. Often, the decision to reimburse comes down to the price of the drug relative to the benefit it produces in treated patients. To reduce the healthcare burden of these high-cost therapies, many payment models are being considered by payers and other industry insiders. The payment models are based on clinical outcomes, annuity payments, and expanded risk pools.The Institute for Clinical and Economic Review estimates that the cumulative budget impact for gene and cell therapies alone could rise to USD 3 trillion in the US when only about 10% of eligible patients are treated with these therapies. There are various disease advocacy groups such as DEBRA International with nearly 50 national DEBRA and epidermolysis bullosa patient support groups help patients with epidermolysis bullosa for insurance and reimbursement.

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Scope of the Report

• The report covers a segment of key events, an executive summary, descriptive overview of Epidermolysis Bullosa, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight into the epidemiology segments and forecasts, disease progression, and treatment guidelines has been provided.
• Additionally, an all-inclusive account of the current and emerging therapies, along with the elaborative profiles of late-stage and prominent therapies, will impact the current treatment landscape.
• A detailed review of the Epidermolysis Bullosa market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies, by understanding trends, through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help shape and drive the 7MM Epidermolysis Bullosa market.

Epidermolysis Bullosa Report Insights

• Patient Population
• Therapeutic Approaches
• Epidermolysis Bullosa Pipeline Analysis
• Epidermolysis Bullosa Market Size and Trends
• Existing and future Market Opportunity

Epidermolysis Bullosa Report Key Strengths

• Ten Years Forecast
• 7MM Coverage
• Epidermolysis Bullosa Epidemiology Segmentation
• Key Cross Competition
• Drugs Uptake and Key Market Forecast Assumptions

Epidermolysis Bullosa Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Analyst Views)

Key Questions Answered

Market Insights

• What was the Epidermolysis Bullosa total market size, the market size by therapies, market share (%) distribution in 2019, and what would it look like in 2032? What are the contributing factors for this growth?
• What will be the impact of EB-101's expected approval in 2024?
• What are the pricing variations among different geographies for approved and off-label therapies?
• How would the market drivers, barriers, and future opportunities affect the market dynamics and subsequent analysis of the associated trends?

Epidemiology Insights

• What are the disease risk, burdens, and unmet needs of Epidermolysis Bullosa? What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Epidermolysis Bullosa?
• What is the historical and forecasted Epidermolysis Bullosa patient pool in the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?
• Why do only limited patients appear with symptoms? Why is the current year diagnosis rate not high?
• Which type of primary Epidermolysis Bullosa is the largest contributor in patients affected with Epidermolysis Bullosa?
• Which gender has a higher prevalence of Epidermolysis bullosa?
• Which age group of Epidermolysis bullosa has a high patient share?

Current Treatment Scenario, Marketed Drugs, and Emerging Therapies

• What are the current options for the treatment of Epidermolysis Bullosa? What are the current guidelines for treating Epidermolysis Bullosa in the US and Europe?
• How many companies are developing therapies for the treatment of Epidermolysis Bullosa?
• How many emerging therapies are in the mid-stage and late stage of development for the treatment of Epidermolysis Bullosa?
• What are the recent novel therapies, targets, mechanisms of action, and technologies being developed to overcome the limitation of existing therapies?
• What key designations have been granted for the emerging therapies for Epidermolysis Bullosa?
• What will be the impact of EB-101's expected entry for the Epidermolysis Bullosa patient pool?
• What is the cost burden of current therapies on the patient?
• Patient acceptability in terms of preferred treatment options as per real-world scenarios?
• What are the country-specific accessibility issues of expensive, current therapies? Focusing on the reimbursement policies.
• What is the 7MM historical and forecasted market of Epidermolysis Bullosa?

Reasons to Buy

• The report will help develop business strategies by understanding the latest trends and changing treatment dynamics driving the Epidermolysis Bullosa market.
• Insights on patient burden/disease incidence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• Understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of approved products in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the Analyst view section to provide visibility around leading classes.
• Highlights of Access and Reimbursement policies of current therapies, barriers to accessibility of expensive off-label therapies, and patient assistance programs.
• To understand Key Opinion Leaders' perspectives around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet need of the existing market so that the upcoming players can strengthen their development and launch strategy