Newborn Screening Test Recommended for Pompe’s Disease

According to a new research report by RNCOS entitled, ?US Newborn Screening Market Outlook 2020?, as genomic medicine becomes more accessible, screening newborns for chronic diseases that may affect their long-term health has been on rise. Among the serious syndromes prevailing in the US, pompe?s disease is growing in the infants. Pompe disease is a rare, inherited and often fatal disorder that disables the heart and skeletal muscles. It is estimated that 1 in every 40,000 births suffer from this syndrome. The inherited rare disorder is caused by the deficiency of acid alpha-glucosidase (GAA) due to which glycogen buildups in the body?s cells. The symptoms begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

The enzyme replacement therapy ?Myozyme? has been an available treatment for Pompe disease in the United States. But this therapy is very expensive and brings out of pocket expenditure to the population. Earlier Pompe?s disease was not included into the screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy. Till now, there have been 30 standard tests for screening medical conditions in infants excluding for Pompe disease. Recently, the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) has proposed to add Pompe disease to the newborn screening list.

Screening alerts parents and doctors to about when to initiate therapy. As suggested by the Department of Health and Human Services (HHS), doctors can start enzyme replacement therapy, a costly regimen of biweekly infusions that add a missing enzyme, acid alpha-glucosidase (GAA), back into the body. The four-to-six-hour infusions are allowed to be continued for life. The procedure reduces sugar accumulation, and is designed to help stave off muscle degradation and heart defects.

For FREE SAMPLE of this report visit: http://www.rncos.com/Report/IM819.htm

Check Related REPORTS on: http://www.rncos.com/Healthcare_Industry.htm



ABOUT RNCOS


RNCOS is a leading industry research and consultancy firm incorporated in 2002. As a pioneer in syndicate market research, our vision is to be a global leader in the industry research space by providing research reports and actionable insights to companies across a range of industries such as Healthcare, IT and Telecom and Retail etc. We offer comprehensive industry research studies, bespoke research and consultancy services to Fortune 1000, Trade associations, and Government agencies worldwide.

Company :-RNCOS E-Services Pvt. Ltd.

User :- Shushmul Maheshwari

Email :-press@rncos.com

Phone :-91--120-4224-700

Mobile:- -

Url :- http://www.rncos.com