Pompe Disease Treatment Market

Pompe disease is a rare and often fatal neuromuscular disease. It is also known as glycogen storage disease type II, which is due to a deficiency of the enzyme acid alpha-glucosidase (GAA). It is caused by the accumulation of glycogen in certain tissues, especially in muscles and impairs their ability to work normally. Two forms of Pompe disease are infantile-onset and late-onset. It mainly affects cardiac and skeletal muscles and further leads to cardiomyopathy, progressive respiratory distress, and skeletal muscles atrophy.

The global Pompe disease treatment market is emerging due to increasing government initiatives and rising R&D activities by manufacturers. However, the high cost of treatment is hampering the growth of the market.

The government is taking continuous initiatives for developing and manufacturing innovative products for the diagnosis and treatment of rare diseases such as Pompe disease. For instance, the Orphan Product Grants funded 18 new grants from a total of 92 grant applications in 2015 to support around 67 ongoing clinical studies that are related to rare diseases. Moreover, the governments of various countries such as Sweden, India, the Netherlands, and South Korea are focusing on approving guidelines for the reimbursement of patients undergoing enzyme replacement therapy (ERT) for the treatment of Pompe disease. For instance, the State Government of Karnataka along with the Employee State Insurance Corporation provides free of cost ERT to patients with lysosomal storage disorders. Furthermore, the Union Ministry of Health and Family Welfare is taking initiatives for creating a fund of amount USD 13,940 Million for the treatment of rare diseases, including lysosomal storage disorders. These growing government initiatives for promoting and advancing Pompe disease treatment solutions are expected to boost the growth of the global Pompe disease treatment market.

Pompe disease is an inherited Lysosomal Storage Disorder (LSD) caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). The accumulation of glycogen leads to the morbidity and mortality associated with Pompe disease, including muscle weakness and respiratory insufficiency. The strategic treatment plan for Pompe disease includes symptomatic and disease-specific approaches with the help of healthcare professionals. Current treatment approaches such as ERT and gene therapy can lead to a detrimental immune response which attenuates patients’ safety.

However, immunotherapy overcomes the challenges of ERT, and gene therapy enhances the immune system and helps in fighting different types of infectious, respiratory, and autoimmune disorders. Advances in preventing the elimination of B- and T-cells from preventing antibody production have shown a significant effect in both pre-clinical and clinical studies. This will result in the increased adoption of immunotherapeutic drugs such as mycophenolate mofetil, cyclophosphamide, and methotrexate to prevent responses to ERT in preventing the formation of an anti-GAA antibody. The emergence of immunotherapy as a safe and effective approach as compared to ERT and gene therapy is likely to create huge opportunities for the Pompe disease treatment market.

Currently, ERT is the only approved and standard treatment for patients with Pompe disease. But the cost associated with ERT is prohibitively high. For instance, according to a recent study published by the Harvard school in 2016, Lumizyme, a drug used to treat Pompe disease costs up to USD 100,000 per year for children and USD 300,000 per year for adults. In addition to this, the intravenous administration of ERT at home requires proper training and precautions to avoid side-effects related to needle and fluids involved in the intravenous delivery of the drug. This high cost associated with the treatment of Pompe disease is expected to hamper the growth of the market.

Pompe disease is a rare, inherited lysosomal disorder that disables heart and skeletal muscles. The field of rare diseases is complex and heterogeneous. Currently, significant progress has been made in the Pompe disease field, but it is still at the nascent stage. Lack of awareness about Pompe disease among public, high cost of treatment, lack of epidemiological data on Pompe disease pose formidable challenges for the development of comprehensive policies on this disease. The pressing need to provide long term effective solutions for the treatment of Pompe disease remains a great challenge for manufacturers and researchers in the field.