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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Prater, SN; Banugaria, SG; DeArmey, SM; Botha, EG; Stege, EM; Case, LE; Jones, HN; Phornphutkul, C; Wang, RY; Young, SP; Kishnani, PS

Published Date

  • September 2012

Published In

Volume / Issue

  • 14 / 9

Start / End Page

  • 800 - 810

PubMed ID

  • 22538254

Pubmed Central ID

  • PMC3947503

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/gim.2012.44


  • eng

Conference Location

  • United States