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

ABSTRACT:

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, wi

SUBMITTER: Prater SN 

PROVIDER: S-EPMC3947503 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature