Diagnosis

According to the Pompe Registry, diagnostic delays in Pompe disease are common and the median time to diagnosis from sign/symptom onset in late-onset Pompe disease has been observed to be up to 12.6 years.9

Pompe disease can be diagnosed by performing an acid α-glucosidase (GAA) enzyme activity assay resulting in deficient enzyme activity and confirmed by a genetic test resulting in 2 pathogenic GAA variants.4

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    Signs and Symptoms
    Diagnosis
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New to molecular testing?

This short video provides general education on molecular testing for healthcare providers who are unfamiliar with the process.

Newborn Screening

In 2015, the US Newborn Screening Advisory Committee recommended, and the Secretary of US Department of Health and Human Services accepted the recommendation, to add Pompe disease to the Recommended Uniform Screening Panel (RUSP)10

  • The Recommended Uniform Screening Panel (RUSP) is a list of disorders recommended by the Secretary of the Department of Health and Human Services (HHS) for states to screen as part of their state universal newborn screening (NBS) programs.

For a brief synopsis of disease spectrum, diagnosis, and newborn screening algorithms in a 1-page brochure format,

For the “Newborn Screening for Pompe Disease: Interactive Diagnostic Algorithm” as recommended by the Pompe Disease Newborn Screening Working Group,

References:
1. Kishnani PS, Howell RR. J Pediatr. 2004 May;144(5 Suppl):S35–S43. 2. AANEM. Muscle & Nerve. 2009;40(1):149–160. 5. Taglia A, et al. Acta Myol. 2011;30(3):179–181. 3. van der Ploeg AT, Reuser AJ. Lancet. 2008;372(9649):1342–1353. 4. Toscano A, et al. Acta Myol. 2013;32(2):78–81. 5. Taglia A, et al. Acta Myol. 2011;30(3):179–181. 6. Hesselink RP, et al. Biochim Biophys Acta. 2003;1637 (2):164–170. 7. Kishnani PS, et al. Genetics in medicine: official journal of the American College of Medical Genetics. 2006;8(5):267–288. 8. Remiche G, et al. Eur Neurol. 2012;68(2):75–78. 9. Kishnani PS, et al. Am J Med Genet A. 2013;161A(10):2431–2443. 10. Secretary's Final Response RE Committee's Recommendation to add Pompe Disease to the RUSP [Internet]. Recommendations to HHS Secretary with Responses. U.S. Department of Health and Human Services. 2015. https://www.hrsa.gov/sites/default
/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/secretary-final-response-pompe.pdf. Accessed October 7, 2019. In.

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