Newborn Screening

Pompe disease newborn screening is a medical test performed on newborns to screen for Pompe disease, a rare and potentially life-threatening genetic disorder.

This screening involves a blood test that measures the levels of alpha-glucosidase, an enzyme that is deficient in individuals with Pompe disease.

Early detection and treatment of Pompe disease are crucial to prevent serious complications and improve outcomes, making newborn screening an important tool for improving health outcomes in affected individuals.

Nationwide Newborn Screening for Pompe Disease  

The Australian Pompe Association welcomes the proposed expansion of newborn screening announced by the Federal Government. The Association proposes that Pompe disease be included in this updated program as a matter of urgency.  

The Association would like to see Pompe, and other applicable Lysosomal diseases routinely screened for at birth in Australia.  

Evidence from other jurisdictions indicates that newborn screening enables timely detection and treatment of Infant-Onset Pompe Disease (IOPD), leading to improved survival, better quality of life, less reliance on ventilation and earlier independent walking.1-3   

In short, the inclusion of Pompe on the national newborn screening program has the potential to save the lives of Australian babies and the tragedy it brings to many families.  

The Australian Pompe Association advocates for these changes because; 

• The lives of Australian babies born with Infant Onset Pompe Disease are likely to be saved by the addition of Pompe to the National Newborn Screening program.  

• The diagnostic odyssey for Late-Onset Pompe Patients will be significantly reduced by the inclusion of Pompe disease on the National Newborn Screening program.  

• Newborn screening will enable families to make informed decisions about family planning and potentially lead to a reduction in the incidence of Pompe disease in the community.  

Approximately three babies are born each year with IOPD and six are born with Late-Onset Pompe Disease (LOPD). Overseas studies indicate that newborn screening enables timely treatment leading to better outcomes for those with both forms of the condition.1,4   

LOPD is commonly detected and treated many years after symptom onset and often after irreversible muscle damage has occurred. Newborn screening for Pompe disease in Australia would enable accurate diagnosis, monitoring and timely treatment for LOPD to occur prior to muscle function damage.4,5   

The Federal Government’s commitment to a consistent, nationwide program for newborn screening will also resolve wide variations in time to diagnosis and treatment across States and Territories, as well as metropolitan, regional and rural areas.   

References: 

1. Yang C.F., et al. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes. J. Pediatr. 2016;169:174–180.e1.  
2. Kishnani P.S., et al. Early treatment with alglucosidase alfa prolongs long-term survival of infants with pompe disease. Pediatr. Res. 2009;66:329–335.  
3. Chien Y.-H., et al. Pompe disease in infants: Improving the prognosis by newborn screening and early treatment. Pediatrics. 2009;124:e1116–e1125.  
4. Chien Y.H., et al. Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening. J. Pediatr. 2011;158:1023–1027.e1.   
5. van der Ploeg A.T., et al. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease. N. Engl. J. Med. 2010;362:1396–1406. 

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All of the children below have Infantile Onset Pompe Disease.

They are doing well and living their best lives wheelchair and ventilator free.

Because they were diagnosed at birth and treated within the first weeks of life in the USA where they screen for Pompe.