Epidermolysis Bullosa (EB) Overview

Epidermolysis Bullosa (EB) Overview

Epidermolysis Bullosa is a rare inherited skin disorder that results in extremely fragile skin and mucous membranes, where even slight friction or minor injuries can cause painful blisters and wounds. The condition ranges in severity depending on the subtype, with the most severe forms causing extensive skin damage, chronic pain, persistent infections, and scarring. EB stems from genetic mutations affecting proteins like collagen and laminin, which are crucial for skin layer cohesion. Symptoms usually appear at birth or in early childhood, and while there is no definitive cure, treatment focuses on symptom relief, infection prevention, and wound care. Promising research into gene therapy, protein replacement, and regenerative treatments is currently underway.

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Epidemiological Breakdown (7MM, 2023–2034)

The segmentation of EB epidemiology includes:

• Total prevalent cases

• Diagnosed prevalent cases

• Gender-based distribution

• Age-specific distribution

• Subtype-specific distribution
  
  

Epidemiology Insights (2023)

• An estimated 46,500 people in the 7 major markets (7MM) were living with EB.

• The United States represented the largest share, with approximately 65% of all cases.

• In EU4 and the UK, Germany had the highest case count, while Spain reported the fewest.

• In the US, the most common subtype was Epidermolysis Bullosa Simplex, followed by Dystrophic EB and Junctional EB.

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Market Overview

• The EB market was valued at approximately USD 1.3 billion in the 7MM in 2023.
  
  

Market Drivers

• Progress in gene therapy and tissue regeneration.

• Rising funding and research efforts for rare diseases.

• An expanding clinical pipeline with new treatment candidates.

• Strong advocacy from patient organizations, leading to greater awareness and investment.

Market Challenges

• High costs associated with specialized treatment and care.

• Limited treatment options across EB subtypes.

• Difficulty in diagnosing and accessing care for rarer forms.

• Lack of awareness among medical professionals delaying diagnosis and treatment.

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Emerging Therapies

• EB-101

• D-Fi

• ABCB5+ MSCs

• And others in development
  
  

Key Industry Players

• Amryt Pharma

• Abeona Therapeutics

• Castle Creek Pharmaceuticals

• RegeneRx

• Krystal Biotech

• Fibrocell Technologies

• RHEACELL GmbH

• StemRim/Shionogi

• Phoenix Tissue Repair (BridgeBio Pharma)

• Menlo Therapeutics

• JCR Pharmaceuticals

• Amicus Therapeutics

• And others

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