Innovative Approaches to Hypophosphatasia Research and Care

Hypophosphatasia is an uncommon inherited metabolic disorder caused by mutations affecting the enzyme tissue-nonspecific alkaline phosphatase (TNSALP). This deficiency leads to inadequate mineralization of bones and teeth, resulting in soft, fragile bones prone to fractures, deformities, and premature tooth loss. The disease’s severity varies widely, ranging from lethal infantile forms with respiratory complications to milder adult presentations that may involve recurrent fractures and dental issues.

Epidemiology Insights for Hypophosphatasia (2020–2034)

In the 7 major markets (7MM) including the US, EU4, UK, and Japan, the Hypophosphatasia Market epidemiology highlights:

• A total of approximately 6,200 diagnosed cases in 2023, with a slow growth rate at a CAGR of 0.8% anticipated through 2034.

• The United States reports the highest number of cases with around 5,600 diagnoses in 2023, expected to rise marginally over the coming decade.

• In the EU4 and UK, 481 diagnosed cases were documented, with Germany (122), France (119), and the UK (117) leading.

• Severity categorization in the US showed 780 mild, 4,700 moderate, and 56 severe cases in 2023.

• Japan stands as the second most affected country among the 7MM with 141 cases.