The global value of the Pompe disease treatment market was USD 4.2 billion in 2024 and is expected to grow at a CAGR of 7.1% during the forecast period. Pompe disease, also known as Glycogen Storage Disease Type II, is a rare inherited disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This deficiency leads to the buildup of glycogen, a type of sugar, in the body's cells, especially in muscles, impairing their ability to function properly.

The symptoms, which mostly affect the skeletal muscles, usually start later in life and progress more slowly. The market is expanding significantly because to the growing number of individuals with this genetic condition. The market for treatments for Pompe disease is expanding as a result of growing awareness of different therapeutic options, such as immunotherapy, chemotherapy, bone marrow transplants, and stem cell transplants.

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Growth Drivers

In the United States, 1 in 40,000 people suffer with Pompe disease. Total carrier frequency (C.F.) and predicted genetic prevalence (PGP) were found to be around 1.3% and 1:23,232, respectively. It is becoming more common, and the healthcare industry places a high value on treating it. Growing healthcare costs are a major factor driving market expansion. It is anticipated that oral medications would accelerate market expansion.

Compared to enzyme-activity testing, genome-first screening programs in China, Japan, and a number of US states identify Pompe disease at far greater rates; Chinese pilots have reported an overall lysosomal frequency of 1 in 1,512 newborns. Pre-symptomatic treatment is driven by earlier detection, particularly in cases with infantile onset where rapid cardiac and respiratory deterioration can be avoided.

Segmentation

By Type

·         Classic Infantile Form

·         Non-Classic Infantile Form

·         Late-Onset Form

·         Others

By Diagnosis

·         Blood Test

·         Genetic Test

·         Other Players

Pompe Disease Treatment Market Disease Severity

·         Infantile Pompe Disease

·         Late-Onset Pompe Disease

·         Classical Pompe Disease

Pompe Disease Treatment Market Route of Administration

·         Intravenous

·         Subcutaneous

·         Oral

Pompe Disease Treatment Market Patient Age Group

·         Pediatric

·         Adult

By Region

·         Asia-Pacific

·         North America

·         Latin America

·         Middle East and Africa

·         Europe

Key Players

·         Genzyme

·         Amicus Therapeutics

·         Valerion Therapeutics

·         Audentes Therapeutics

·         Shire, Amicus Therapeutics

·         Akashi Therapeutics

·         Protalix BioTherapeutics

·         Ziarco, Catabasis Pharmaceuticals

·         Ultragenyx, Asklepios BioPharmaceutical,

·         Sanofi

·         Other Players

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