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Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Publication ,  Journal Article
ElMallah, MK; Desai, AK; Nading, EB; DeArmey, S; Kravitz, RM; Kishnani, PS
Published in: Pediatr Pulmonol
March 2020

OBJECTIVES: To report the respiratory function of school-aged children with infantile Pompe disease (IPD) who started enzyme replacement therapy (ERT) in infancy and early childhood. STUDY DESIGN: This is a retrospective chart review of pulmonary function tests of: (a) patients with IPD 5 to 18 years of age, (b) who were not ventilator dependent, and (c) were able to perform upright and supine spirometry. Subjects were divided into a younger (5-9 years) and older cohort (10-18 years) for the analysis. Upright and supine forced vital capacity (FVC), maximal inspiratory pressure (MIP), and maximal expiratory pressure (MEP) were analyzed. RESULTS: Fourteen patients, all cross-reactive immunologic material (CRIM)-positive, met the inclusion criteria and were included in this study. Mean upright and supine FVC were 70.3% and 64.9% predicted, respectively, in the 5- to 9-year-old cohort; and 61.5% and 52.5% predicted, respectively, in the 10- to 18-year-old group. Individual patient trends showed stability in FVC overtime in six of the 14 patients. MIPs and MEPs were consistent with inspiratory and expiratory muscle weakness in the younger and older age group but did not decline with age. CONCLUSION: Data from this cohort of CRIM-positive patients with IPD showed that ERT is able to maintain respiratory function in a subgroup of patients whereas others had a steady decline. There was a statistically significant decline in FVC from the upright to a supine position in both the younger and older age groups of CRIM-positive ERT-treated patients. Before ERT, patients with IPD were unable to maintain independent ventilation beyond the first few years of life.

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Published In

Pediatr Pulmonol

DOI

EISSN

1099-0496

Publication Date

March 2020

Volume

55

Issue

3

Start / End Page

674 / 681

Location

United States

Related Subject Headings

  • Young Adult
  • Treatment Outcome
  • Survivors
  • Respiratory System
  • Respiratory Function Tests
  • Male
  • Humans
  • Glycogen Storage Disease Type II
  • Female
  • Enzyme Replacement Therapy
 

Citation

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Chicago
ICMJE
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ElMallah, M. K., Desai, A. K., Nading, E. B., DeArmey, S., Kravitz, R. M., & Kishnani, P. S. (2020). Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. Pediatr Pulmonol, 55(3), 674–681. https://doi.org/10.1002/ppul.24621
ElMallah, Mai K., Ankit K. Desai, Erica B. Nading, Stephanie DeArmey, Richard M. Kravitz, and Priya S. Kishnani. “Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.Pediatr Pulmonol 55, no. 3 (March 2020): 674–81. https://doi.org/10.1002/ppul.24621.
ElMallah MK, Desai AK, Nading EB, DeArmey S, Kravitz RM, Kishnani PS. Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. Pediatr Pulmonol. 2020 Mar;55(3):674–81.
ElMallah, Mai K., et al. “Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.Pediatr Pulmonol, vol. 55, no. 3, Mar. 2020, pp. 674–81. Pubmed, doi:10.1002/ppul.24621.
ElMallah MK, Desai AK, Nading EB, DeArmey S, Kravitz RM, Kishnani PS. Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. Pediatr Pulmonol. 2020 Mar;55(3):674–681.
Journal cover image

Published In

Pediatr Pulmonol

DOI

EISSN

1099-0496

Publication Date

March 2020

Volume

55

Issue

3

Start / End Page

674 / 681

Location

United States

Related Subject Headings

  • Young Adult
  • Treatment Outcome
  • Survivors
  • Respiratory System
  • Respiratory Function Tests
  • Male
  • Humans
  • Glycogen Storage Disease Type II
  • Female
  • Enzyme Replacement Therapy