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 a GAA enzyme activity assay that resulting in deficient enzyme activity and confirmed by a genetic testing resulting in two pathogenic GAA variants.3
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 that is 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.
- Kishnani PS, Howell RR. Pompe disease in infants and children. The Journal of Pediatrics 2004;144:S35-S43.
- van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet 2008;372:1342-53.
- Toscano A, Montagnese F, Musumeci O. Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD). Acta Myol 2013;32:78-81.
- AANEM. Diagnostic criteria for late‐onset (childhood and adult) Pompe disease. Muscle & Nerve 2009;40:149-160.
- Taglia A, Picillo E, D'Ambrosio P, Cecio MR, Viggiano E, Politano L. Genetic counseling in Pompe disease. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2011;30:179-181.
- Hesselink RP, Wagenmakers AJ, Drost MR, Van der Vusse GJ. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochim Biophys Acta 2003;1637:164-70.
- Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genetics in medicine : official journal of the American College of Medical Genetics 2006;8:267-288.
- Remiche G, Herbaut AG, Ronchi D, Lamperti C, Magri F, Moggio M, et al. Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol 2012;68:75-8.
- Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A 2013;161a:2431-43.
- 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.