Original articleA retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
Section snippets
Study Design and Patients
A questionnaire sent to physicians identified suitable study sites in Israel, Taiwan, North America, and Europe. Charts of patients with Pompe disease (with no set limit on year of birth) were screened for eligibility. Informed consent was obtained from the patient’s legal guardian if local regulatory authorities required it. Eligible cases had documented GAA enzyme deficiency or GAA gene mutation(s) in the medical record and onset of signs or symptoms by 12 months of age. Patients who had
Demographics, Family History, and Congenital Anomalies
Of 300 charts screened, 172 met all inclusion criteria; 4 of these were excluded because patients had received enzyme replacement therapy. The remaining 168 patients represented the eligible study population, coming from 32 sites in 9 countries, including the United States (n = 51; 30.4%), Taiwan (n = 46; 27.4%), Israel (n = 32; 19.0%), France (n = 21; 12.5%), the United Kingdom (n = 6; 3.6%), The Netherlands (n = 4; 2.4%), Italy (n = 4; 2.4%), Canada (n = 3; 1.8%), and Austria (n = 1, 0.6%).
Discussion
Our results document in detail the frequency and presenting age of signs and symptoms, as well as other significant clinical milestones such as first use of ventilator support and death, for infants presenting with Pompe disease within their first year of life. As expected for an autosomal recessive disorder, males and females were equally represented. Although the cases came from Israel, Taiwan, the United States, and Europe and represented predominantly 3 ethnic groups (Caucasian, Asian, and
References (17)
- et al.
Identification of two subtypes of infantile acid maltase deficiency
J Pediatr
(2000) - et al.
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
Lancet
(2000) - et al.
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type IIresults of a phase I/II trial
Genet Med
(2001) - et al.
Glycogen storage disease type IIacid α-glucosidase (acid maltase) deficiency
- et al.
Frequency of glycogen storage disease type II in The Netherlandsimplications for diagnosis and genetic counseling
Eur J Human Genet
(1999) - et al.
Pompe’s disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity
J Inherit Metab Dis
(1987) - et al.
Increased frequency of Pompe disease (infantile glycogen storage disease type II) in Afro-Americans
Pediatr Res
(2004) - et al.
Carrier frequency for the glycogen storage disease type II in New York and estimates of affected individuals born with the disease [letter]
Am J Med Genet
(1998)
Cited by (496)
Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy
2024, Molecular MetabolismLentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease
2024, Journal of ProteomicsGAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
2023, Molecular Genetics and Metabolism ReportsMotor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
2023, Molecular Genetics and MetabolismPhase I study of liver depot gene therapy in late-onset Pompe disease
2023, Molecular TherapyPompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis
2023, Molecular Genetics and Metabolism
Supported by Genzyme Corporation.
- ⁎
List of members of the Infantile-onset Pompe Disease Natural History Study Group is available at www.jpeds.com.