Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-glucosidase recently received marketing approval based on prolonged survival of affected infants. The current open-label study was performed to evaluate the response in older children (age 5.9-15.2 years). The five patients that we studied had limb-girdle muscle weakness and three of them also had decreased pulmonary function in upright and supine position. They received 20-mg/kg recombinant human α-glucosidase every two weeks over a 3-year period. No infusion-associated reactions were observed. Pulmonary function remained stable (n = 4) or improved slightly (n = 1). Muscle strength increased. Only one patient approached the normal range. Patients obtained higher scores on the Quick Motor Function Test. None of the patients deteriorated. Follow-up data of two unmatched historical cohorts of adults and children with Pompe disease were used for comparison. They showed an average decline in pulmonary function of 1.6% and 5% per year. Data on muscle strength and function of untreated children were not available. Further studies are required.
van Capelle
C I
CI
Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
van der Beek
N A M E
NA
Hagemans
M L C
ML
Arts
W F M
WF
Hop
W C J
WC
Lee
P
P
Jaeken
J
J
Frohn-Mulder
I M E
IM
Merkus
P J F M
PJ
Corzo
D
D
Puga
A C
AC
Reuser
A J
AJ
van der Ploeg
A T
AT
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000627:therapeutic use*; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology*; D011994:Recombinant Proteins / Q000627:therapeutic use; D016896:Treatment Outcome
D011994:Recombinant Proteins; D005087:Glucan 1,4-alpha-Glucosidase