Overview:
Pompe disease also known as lysosomal storage disorder, is an inherited, rare disease that is characterized by progressive muscle weakness and respiratory disorder. Pompe disease usually occurs in 1 in 40,000 newborn babies, where the lowest rate is observed in the countries like Australia and New Zealand and higher rate among African American populations. The major factorial entities supporting the growth in demand for Pompe disease treatment is its wide prevalence, advancement in new genome sequencing, companion diagnostic kits, pharmacogenomics, research and development infrastructure and regulatory agencies initiatives.
Pompe disease is widely prevalent in the developed countries, where the disease awareness and diagnosis is done at the early stages. New genome sequencing has been developed to a large extent which will be helpful in the proper understanding of this disease at the fetal stages and at the genomic level. Companion diagnostic kits have been approved by the FDA which will help in the positive growth for Pompe disease therapeutic market. Recent technological advancement in pharmacogenomics will be helpful in understanding the drug effect at the desired gene site and thus helpful in developing the drug delivery techniques like enzyme replacement therapy, gene therapy etc. Big pharmaceutical players are investing in the research and development infrastructure in the developing countries which will bring the diagnosis and treatment of Pompe disease under its ambit. Regulatory agencies have developed a special drug designation for the orphan disease treatment (Orphan drug act 1983) will be vital in the growth for the treatment of Pompe disease. Challenges in this scenario would be the limited number of patient population suffering with Pompe disease. Patient compliance during the treatment is a big hurdle as the treatment demands a long term commitment. The number of drugs in the pipelines are few as the available genomic data for the proper understanding of the disease is limited. Restraints regarding Pompe disease therapeutic market are ambiguous Reimbursement policies, biomarkers and inaccurate process validation. Ambiguous reimbursement policies causes genetic discrimination in the cost coverage for rare diseases is the biggest hurdle for the expenditure in the healthcare domain. The biomarkers used for the diagnosis for the genetic diseases are not having the optimum structural configuration which results into inappropriate diagnosis of the disease. The process validation regarding the signaling pathways which are linked to Pompe disease needs to be explored and the interpretation of the results in the diagnosis and the treatment of Pompe disease is still a burden as the number of trained healthcare professionals are very few, which in turn acts as hurdle in the growth of the Pompe disease Therapeutic market.
The Pipeline products for Pompe disease in phase 3 are AT-982 (Audentes therapeutics), NeoGAA GZ402666 (Sanofi), phase 2 product is BMN 701(Biomarin). Molecule in the preclinical study is MOSS-GAA (Greenovation biopharmaceuticals).The other treatment areas which are employed for the Pompe disease treatment are substrate reduction therapy, stem cell therapy and protein chaperons.
The global Pompe disease therapeutics market is segmented on the following bases:
Key players identified for Global Pompe disease therapeutics market include:
The major pharmaceutical players involved in enzyme replacement therapy are Sanofi (Neo GAA), Audentes Therapeutics (AT-982), Amicus Therapeutics (ATB200/AT2221), Oxyrane OXY (2810), manufacturers involved in the gene therapy (adeno-associated virus) are (CERE 110) Sangamo, (Myozyme) Genzyme.
This report offers:
