Lessons Learned from Pompe Disease Newborn Screening and Follow-up

Klug, Tracy; Swartz, Lori B; Washburn, Jon; Brannen, Candice; Kiesling, Jami

doi:10.3390/ijns6010011

Cited by 25 publications

(33 citation statements)

References 11 publications

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“…The high frequency of IOPD patients in Taiwan is attributed to the high frequency of allele c.1935C > A, which was most commonly found in IOPD patients in Taiwan and southern China [ 22 – 24 ]. On the other hand, the Missouri program [ 25 ] detected more patients with IOPD than our program. Particularly, 10 patients with IOPD were identified from approximately 467,000 newborns (1/46,700).…”

Section: Discussionmentioning

confidence: 59%

Current status of newborn screening for Pompe disease in Japan

Sawada

Kido

Sugawara

et al. 2021

Orphanet J Rare Dis

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Background Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We conducted newborn screening (NBS) for Pompe disease in Japan from April 2013 to October 2020 to determine the feasibility and utility of NBS for Pompe disease. Results From the 296,759 newborns whose enzyme activity was measured, 107 of which underwent GAA analysis, we found one patient with infantile-onset Pompe disease (IOPD) and seven with potential late-onset Pompe disease (LOPD). We identified 34 pseudodeficient individuals and 65 carriers or potential carriers. The frequency of patients with IOPD was similar to that in the United States, but significantly lower than that in Taiwan. One patient with IOPD underwent early enzyme replacement therapy within a month after birth before presenting exacerbated manifestations, whereas those with potential LOPD showed no manifestations during the follow-up period of six years. Conclusions The frequency of IOPD in Japan was similar to that in the United States, where NBS for Pompe disease is recommended. This indicates that NBS for Pompe disease may also be useful in Japan. Therefore, it should be used over a wider region in Japan.

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Section: Discussionmentioning

confidence: 59%

Current status of newborn screening for Pompe disease in Japan

Sawada

Kido

Sugawara

et al. 2021

Orphanet J Rare Dis

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“…A total of 234 of 395 (59%) were false positive (normal confirmatory enzyme activity), and 62 (26%) carried pseudodeficiency alleles; this compares to only 1.7% and 13% in Pennsylvania, respectively. In Missouri, 467,000 newborns were screened for Pompe disease, and 274 had a positive test based on decreased GAA activity between January 2013 and December 2018 [ 35 ]. A total of 97 of 274 (35%) were false positive based on normal GAA activity, and 53 of 274 (19%) carried pseudodeficiency alleles; this compares to only 1.7% and 13% in Pennsylvania, respectively.…”

Section: Discussionmentioning

confidence: 99%

Newborn Screening for Pompe Disease: Pennsylvania Experience

Fıçıcıoğlu

Ahrens‐Nicklas

Joshua

et al. 2020

IJNS

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Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase (GAA) enzyme activity is measured by flow-injection tandem mass spectrometry (FIA/MS/MS) and full sequencing of the GAA gene is performed as a second-tier test in all newborns with low GAA enzyme activity [<2.10 micromole/L/h]. A total of 115 newborns had low GAA enzyme activity and abnormal genetic testing and were referred to metabolic centers. Two newborns were diagnosed with Infantile Onset Pompe Disease (IOPD), and 31 newborns were confirmed to have Late Onset Pompe Disease (LOPD). The incidence of IOPD + LOPD was 1:16,095. A total of 30 patients were compound heterozygous for one pathogenic and one variant of unknown significance (VUS) mutation or two VUS mutations and were defined as suspected LOPD. The incidence of IOPD + LOPD + suspected LOPD was 1: 8431 in PA. We also found 35 carriers, 15 pseudodeficiency carriers, and 2 false positive newborns.

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“…Results obtained thus far show 1) more false than true positives causing unnecessary stress to families, 2) more LSD newborns identified with a late-onset rather than an early-onset phenotype (in infancy/childhood) who may spend the majority of their life asymptomatic, and 3) the dilemma of screening for untreatable diseases, which includes the vast majority of LSD, particularly those with neurological symptoms. [5][6][7] As debate continues over the feasibility, beneficiaries and economics of newborn screening for LSD, there is an unmet need to quantify the magnitude of the LSD burden in modern-day, real-life populations so public health policies are information rather than perception driven. 5 There is a paucity of epidemiological data for LSD that is either outdated and/or confined to relatively homogenous demographics.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prevalence of lysosomal storage disorders in Australia from 2009 to 2020

Chin

Fuller

2022

The Lancet Regional Health - Western Pacific

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Background Lysosomal storage disorders (LSD) are a family of genetic diseases that have a devastating impact on the patient and family with a concomitant health burden. Although considered rare disorders, improved diagnostic capabilities, newborn screening programs and public awareness has witnessed the frequency of many LSD increase considerably over recent years. To quantify their footprint, the number of LSD diagnosed in the multicultural Australian population in a 12-year period was determined. The principle objective was to yield contemporary prevalence figures to inform public health policies.Methods From the national referral laboratory for LSD diagnoses in Australia, retrospective data from patient referrals and prenatal testing for the period January 1 2009 to December 31 2020 were collated. Diagnosis was established biochemically by enzyme activity and/or metabolite determinations, as well as molecular genetic testing. The incidence of each disorder was determined by dividing the number of postnatal diagnoses by the number of births with prevalence including prenatal diagnoses.Findings During this 12-year period 766 diagnosis of LSD were confirmed inclusive of 32 prenatal outcomes representing 38 individual disorders. Total diagnosis per 100,000 live births averaged 21 per year (range 16 − 26) with Fabry disease the most prevalent representing 34% of all diagnoses in the current (up to 2020) report.Interpretation The combined prevalence of LSD for this study period at 1 per 4,800 live births is considerably higher than 1 per 7,700 reported for a 17-year period up to 1996. Additionally, more adults were diagnosed than children, implying that LSD are more common in adulthood than childhood. These data highlight the requirements for physicians to consider LSD in symptomatic adults and should refigure public health policies steering newborn screening programs in the direction of adult-onset conditions.

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Lessons Learned from Pompe Disease Newborn Screening and Follow-up

Cited by 25 publications

References 11 publications

Current status of newborn screening for Pompe disease in Japan

Current status of newborn screening for Pompe disease in Japan

Newborn Screening for Pompe Disease: Pennsylvania Experience

Prevalence of lysosomal storage disorders in Australia from 2009 to 2020

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