Alport Syndrome Overview

Alport Syndrome Overview

Alport Syndrome is a rare inherited disorder that primarily affects the kidneys, eyes, and inner ears, stemming from a genetic mutation in type IV collagen, a protein essential for maintaining the structural integrity of various tissues. The condition manifests in several forms, including X-linked (XLAS), autosomal recessive (ARAS), and autosomal dominant (ADAS) types. Clinically, it often begins with microscopic blood in the urine (hematuria), progresses to proteinuria, and can lead to chronic kidney disease and ultimately end-stage renal disease (ESRD), especially in young adults.

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Epidemiology of Alport Syndrome (7MM, 2023)

• Approximately 159,000 individuals are affected in the 7 major markets (7MM).

• Adults represent about 86% of the patient population, with pediatrics accounting for the remaining 14%.

• X-linked Alport syndrome (XLAS) is the most commonly diagnosed subtype, with around 11,000 cases in the US alone.

• Autosomal dominant Alport syndrome (ADAS) is the rarest subtype.

• In Europe (EU4), Germany reported the highest prevalence (~17,000 cases), while Spain had the fewest.

Market Insights: Alport Syndrome (2023)

• The market size in the 7MM was estimated at around USD 20 million.

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Key Market Drivers

• Better genetic and pathophysiological understanding of the disease.

• Increased use of genetic testing is aiding earlier diagnosis.

• Growing focus on gene-targeted and disease-modifying therapies.

• Significant unmet clinical need for effective and long-term treatment options.
  
  

Market Barriers

• Low disease awareness and frequent misdiagnosis result in treatment delays.

• No currently approved therapies, making management challenging.

• High treatment costs, typical for rare genetic conditions.

• Limited access to genetic testing, particularly in underserved or underdiagnosed populations.

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Emerging Therapies for Alport Syndrome

• ELX-02

• Atrasentan

• Additional pipeline candidates under development

Leading Companies in the Alport Syndrome Market

• Eloxx Pharmaceuticals

• Chinook Therapeutics

• Novartis

• Bayer

• Calliditas Therapeutics

• Evotec

• And others
  
  

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