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The emerging phenotype of long-term survivors with infantile Pompe disease.

Publication ,  Journal Article
Prater, SN; Banugaria, SG; DeArmey, SM; Botha, EG; Stege, EM; Case, LE; Jones, HN; Phornphutkul, C; Wang, RY; Young, SP; Kishnani, PS
Published in: Genet Med
September 2012

PURPOSE: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. METHODS: Inclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years. Clinical outcome measures included invasive ventilator-free survival and parameters for cardiac, pulmonary, musculoskeletal, gross motor, and ambulatory status; growth; speech, hearing, and swallowing; and gastrointestinal and nutritional status. RESULTS: Eleven of 17 patients met study criteria. All were cross-reactive immunologic material-positive, alive, and invasive ventilator-free at most recent assessment, with a median age of 8.0 years (range: 5.4-12.0 years). All had marked improvements in cardiac parameters. Commonly present were gross motor weakness, motor speech deficits, sensorineural and/or conductive hearing loss, osteopenia, gastroesophageal reflux, and dysphagia with aspiration risk. Seven of 11 patients were independently ambulatory and four required the use of assistive ambulatory devices. All long-term survivors had low or undetectable anti-alglucosidase alfa antibody titers. CONCLUSION: Long-term survivors exhibited sustained improvements in cardiac parameters and gross motor function. Residual muscle weakness, hearing loss, risk for arrhythmias, hypernasal speech, dysphagia with risk for aspiration, and osteopenia were commonly observed findings.

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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

September 2012

Volume

14

Issue

9

Start / End Page

800 / 810

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Survivors
  • Speech Disorders
  • Retrospective Studies
  • Phenotype
  • Muscle Weakness
  • Male
  • Humans
  • Hearing Loss
 

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Prater, S. N., Banugaria, S. G., DeArmey, S. M., Botha, E. G., Stege, E. M., Case, L. E., … Kishnani, P. S. (2012). The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med, 14(9), 800–810. https://doi.org/10.1038/gim.2012.44
Prater, Sean N., Suhrad G. Banugaria, Stephanie M. DeArmey, Eleanor G. Botha, Erin M. Stege, Laura E. Case, Harrison N. Jones, et al. “The emerging phenotype of long-term survivors with infantile Pompe disease.Genet Med 14, no. 9 (September 2012): 800–810. https://doi.org/10.1038/gim.2012.44.
Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, et al. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012 Sep;14(9):800–10.
Prater, Sean N., et al. “The emerging phenotype of long-term survivors with infantile Pompe disease.Genet Med, vol. 14, no. 9, Sept. 2012, pp. 800–10. Pubmed, doi:10.1038/gim.2012.44.
Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012 Sep;14(9):800–810.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

September 2012

Volume

14

Issue

9

Start / End Page

800 / 810

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Survivors
  • Speech Disorders
  • Retrospective Studies
  • Phenotype
  • Muscle Weakness
  • Male
  • Humans
  • Hearing Loss