CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Purpose: Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)-negative (CN) patients have immune responses with significant clinical decline despite continued ERT. We aimed to characterize immune responses in CN patients with IPD receiving ERT monotherapy.

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

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.

LMNA mutations in atypical Werner's syndrome.

Background: Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN).