Epidermolysis Bullosa Market Insight, Epidemiology and Market Forecast - 2034

Key Highlights

• In 2023, the market size of epidermolysis bullosa was highest in the US among the 7MM, accounting for approximately USD 1.30 billion, which is further expected to increase by 2034.
• Epidermolysis bullosa simplex (EBS) is the least severe type of epidermolysis bullosa, and many individuals with EBS may experience improvements as they age. On the other hand, recessive dystrophic epidermolysis bullosa is considered the most critical.
• Among the type-specific cases, more than 30% of prevalent cases were observed in dystrophic epidermolysis bullosa, and only 5% were found in junctional epidermolysis bullosa in 2023.
• There are limited effective therapies currently available for epidermolysis bullosa 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 therapy 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 i.e., JACE (human epidermal cell sheet) which is a product of Japan Tissue Engineering.
• Lack of approved therapies for epidermolysis bullosa, highlights the significant unmet need for epidermolysis bullosa patients.
• Krystal has taken the lead in the race for gene therapy treatments for epidermolysis bullosa by securing FDA approval for VYJUVEK, which is effective for both the recessive and dominant forms of the condition.
• 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 1-year ahead of Abeona in its development process, there is impending competition between the two therapies.
• Despite the several approved therapies, there is still a long way to go in meeting all the needs of epidermolysis bullosa patients, and further research and development are essential to improve treatment options and ultimately enhance the quality of life for individuals living with epidermolysis bullosa worldwide.

This 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 2020 to 2034. 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: 2020-2034

Epidermolysis Bullosa Disease Understanding and Treatment Algorithm

Epidermolysis Bullosa Overview

Epidermolysis Bullosa is a 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 Epidermolysis Bullosa can vary widely, ranging from mild to life-threatening, depending on the specific subtype.

Epidermolysis Bullosa Diagnosis

The patient journey of Epidermolysis Bullosa 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 Epidermolysis Bullosa 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 Epidermolysis Bullosa. 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.

Epidermolysis Bullosa Treatment

Treatment for Epidermolysis Bullosa 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 Epidermolysis Bullosa, 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.

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, gender-specific cases of Epidermolysis Bullosa, age-specific cases of Epidermolysis Bullosa, and type-specific cases of Epidermolysis Bullosa in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain), the United Kingdom, and Japan from 2020 to 2034. The total prevalent cases of Epidermolysis Bullosa in the 7MM comprised approximately 46,500 cases in 2023 and are projected to increase during the forecasted period.

• The United States contributed to the largest prevalent cases of Epidermolysis Bullosa, accounting for ~65% of the 7MM in 2023. Whereas EU4 and the UK, and Japan accounted for around 30% and ~5% of the total population share, respectively, in 2023.
• 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 2023.
• According to estimates, in the United States, there were around 18,000, 1,450, and 8,500 cases of epidermolysis bullosa simplex, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa, respectively, in 2023.
• There is a slight difference in the ratio of males vs. females, with a patient share of males being slightly higher.

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 a non-invasive, topical, redosable gene therapy designed to deliver two copies of the COL7A1 gene when applied directly to DEB wounds. In May 2023, VYJUVEK (beremagene geperpavec-svdt) was approved for treating patients 6 months of age or older with DEB. VYJUVEK is the first-ever redosable gene therapy and the first and only medicine approved by the FDA for treating DEB, both recessive and dominant; a healthcare professional can administer that in either a healthcare professional setting or in the home.

In November 2023, Krystal Biotech announced that the Company’s Marketing Authorization Application (MAA) to the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) for VYJUVEK for the treatment of dystrophic epidermolysis bullosa (DEB) has been validated and is now under CHMP review. A CHMP opinion is anticipated in the second half of 2024. Whereas approval in Japan is expected in early 2025.

FILSUVEZ (oleogel-S10): Chiesi Farmaceutici

FILSUVEZ (oleogel-S10/birch triterpenes/formerly known as AP101) is an herbal medicinal product that contains birch triterpenes from birch bark. FILSUVEZ received a marketing authorization valid throughout the EU on 21 June 2022. FILSUVEZ gel is indicated for patients 6 months and older to treat superficial wounds associated with Junctional Epidermolysis Bullosa and Dystrophic Epidermolysis Bullosa. In February 2022, Amryt announced it received a Complete Response Letter (CRL) from the US FDA regarding its New Drug Application (NDA) for Oleogel-S10 for the treatment of the cutaneous manifestations of dystrophic and Junctional Epidermolysis Bullosa. The FDA asked Amryt to submit additional confirmatory evidence of effectiveness for Oleogel-S10 in epidermolysis bullosa. In April 2023, Chiesi Farmaceutici announced the completion of the acquisition of Amryt Pharma.

In December 2023, the US FDA approved FILSUVEZ topical gel for the treatment of partial thickness wounds in patients 6 months and older with Junctional Epidermolysis Bullosa (JEB) and Dystrophic Epidermolysis Bullosa (DEB). FILSUVEZ is the first approved treatment for wounds associated with JEB.

Emerging Drug

EB-101: Abeona Therapeutics

EB-101 is an autologous, engineered cell therapy currently being developed to treat Recessive Dystrophic Epidermolysis Bullosa. 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.

In November 2022, the pivotal Phase III VIITAL study met its two co-primary efficacy endpoints demonstrating statistically significant, clinically meaningful improvements in wound healing and pain reduction in large chronic Recessive Dystrophic Epidermolysis Bullosa. In September 2023, the Company submitted a Biologics License Application (BLA) to the US FDA seeking approval of EB-101. As part of the submission, Abeona requested a Priority Review, which, if granted, would shorten the FDA’s review period to six months from the filing acceptance of the BLA, instead of 10 months under standard review.

D-Fi (dabocemagene autoficel): Castle Creek Biosciences

D-Fi, also known as FCX-007 (dabocemagene autoficel), is an autologous gene therapy candidate to treat dystrophic epidermolysis bullosa (DEB), a progressive, devastatingly painful, and debilitating, rare genetic skin disorder. D-Fi is currently in Phase III clinical development for the localized treatment of chronic wounds in individuals with Recessive Dystrophic Epidermolysis Bullosa. The clinical study plan includes a multi-center, within-patient randomized, controlled, open-label study of D-Fi and builds on data reported from the Phase I/II clinical trial.

Drug Class Insights

Preclinical or clinical testing of gene therapies (gene replacement, gene editing, RNA-based therapy, natural gene therapy), cell-based therapies (fibroblasts, bone marrow transplantation, mesenchymal stromal cells, induced pluripotential stem cells), recombinant protein therapies, and small molecule and drug repurposing approaches are all being currently explored for epidermolysis bullosa.

Gene therapies for epidermolysis bullosa are becoming a reality with the approval of VYJUVEK, the first FDA-approved topical gene therapy. Two other gene therapy contenders are Abeona and Castle Creek Biosciences, which operate similarly to VYJUVEK by introducing COL7A1 into the body.

VYJUVEK is the first to use the herpes simplex virus type 1 (HSV-1) as a gene therapy vector. Unlike many other viruses used for gene therapy, the herpes simplex virus does not integrate into its host’s genome when it infects a cell. This is an advantage because there is a slight risk that integration can disrupt normal gene expression and cause cancer.

JACE was the first cell therapy to get the regulatory nod for Epidermolysis Bullosa in 2018. Stem cell-based therapies are becoming increasingly important, especially for previously incurable diseases. Due to the special immunomodulatory and anti-inflammatory properties, ABCB5+ mesenchymal stromal cells (ABCB5+ MSCs) represent a new, promising therapeutic approach for various chronic inflammatory diseases, including epidermolysis bullosa. The cell therapy agent has already shown in chronic venous wounds (CVU) that the stem cells interact locally with the immune system in the body, and therefore chronic wounds can be closed. The two other cell therapies include ISN001, a Phase III product by Ishin Pharma, and ALLO- RV-LAMB3-transduced epidermal stem cells, developed by Holostem Terapie Avanzate.

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 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 Recessive Dystrophic Epidermolysis Bullosa, 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.

In the race for gene therapy treatments for epidermolysis bullosa, 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, targeting Recessive Dystrophic Epidermolysis Bullosa.

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 analyst'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 ~1,700 million in 2023 and is projected to increase during the forecast period (2024-2034).
• Among EU4 countries, Germany accounts for the maximum market size in 2023, while Spain occupies the bottom of the ladder.
• In Japan, the highest revenue among current therapies included supportive treatment, followed by JACE.
• Among the emerging therapies, VYJUVEK is expected generate the highest revenue in the 7MM.
• The pipeline of epidermolysis bullosa treatments includes several robust candidates that are poised to transform the market dynamics and address the unmet needs of patients with this condition.
• The long-awaited period for the United States was finally over with the recent approval of the first-ever topical gene therapy, VYJUVEK, in May 2023.

Epidermolysis Bullosa Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2024-2034. An expected fast uptake of VYJUVEK in the US as Cheisi's product launched recently in the US after several hurdles, which might gave VYJUVEK some alone time in the US market. Even though we expect a Medium-fast uptake of Abeona's EB-101 and its launch in 2024, the label will only be restricted to RDEB patients, which is approximately 15% of the total EB patient pool comprising of severe patients. Two of the most potential upcoming therapies by Abeona and Castle Creek Biosciences are targeting the same patient pool and are expected to have stiff competition due to launch during the same period. Whereas, this remains quite different in Europe, where we expect FILSUVEZ to have an upper hand in terms of faster adoption and uptake due to first mover advantage and inclusion of a broader patient pool in its EMA label, even though FILSUVEZ has not been launched anywhere except in Germany as of July 2023.

Epidermolysis Bullosa Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III and Phase II. 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; National Epidermolysis Bullosa Registry, and Center for Blistering Diseases, St John’s Institute of Dermatology, NHS Foundation Trust, Departments of Dermatology, and others.

The analysts connected with 30+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. Centers such as the 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

We perform 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, wound healing/wound closure 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 that 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 and 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

• Eleven Years Forecast
• The 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 Conjoint Analysis)

FAQs

• What was the Epidermolysis Bullosa total market size, the market size by therapies, market share (%) distribution in 2020, and what would it look like in 2034? What are the contributing factors for this growth?
• What will be the impact of EB-101’s expected approval in 2024?
• How will EB-101 and D-Fi compete with VYJUVEK once they get approved in 2024?
• Which class is going to be the largest contributor in 2034?
• 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?
• What are the disease risk, burdens, and unmet needs of Epidermolysis Bullosa? What will be the growth opportunities across the 7MM concerning the patient population of 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?
• Which type of Epidermolysis Bullosa is the largest contributor?
• Which gender has a higher prevalence of Epidermolysis bullosa?
• Which age group of Epidermolysis bullosa has a high patient share?
• 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 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?
• 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.

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.