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Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
- Source :
- Molecular Genetics and Metabolism. 99:26-33
- Publication Year :
- 2010
- Publisher :
- Elsevier BV, 2010.
-
Abstract
- Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to form native enzyme. Enzyme replacement therapy with recombinant human GAA (rhGAA) prolongs survival in infantile Pompe patients but may be less effective in cross-reactive immunologic material (CRIM)-negative patients. We retrospectively analyzed the influence of CRIM status on outcome in 21 CRIM-positive and 11 CRIM-negative infantile Pompe patients receiving rhGAA. Patients were from the clinical setting and from clinical trials of rhGAA, were 6 months of age, were not invasively ventilated, and were treated with IV rhGAA at a cumulative or total dose of 20 or 40 mg/kg/2 weeks. Outcome measures included survival, invasive ventilator-free survival, cardiac status, gross motor development, development of antibodies to rhGAA, and levels of urinary Glc(4). Following 52 weeks of treatment, 6/11 (54.5%) CRIM-negative and 1/21 (4.8%) CRIM-positive patients were deceased or invasively ventilated (p
- Subjects :
- Male
Cardiac function curve
medicine.medical_specialty
Endocrinology, Diabetes and Metabolism
Urinary system
Enzyme-Linked Immunosorbent Assay
Cross Reactions
Biochemistry
Gastroenterology
Article
Endocrinology
Internal medicine
Genetics
medicine
Lysosomal storage disease
Humans
Enzyme Replacement Therapy
Muscle Strength
Molecular Biology
Alglucosidase alfa
Retrospective Studies
Glycogen Storage Disease Type II
business.industry
Infant
Retrospective cohort study
Enzyme replacement therapy
medicine.disease
Recombinant Proteins
Surgery
Clinical trial
Treatment Outcome
Immunoglobulin G
alpha-Galactosidase
Acid alpha-glucosidase
Female
business
medicine.drug
Subjects
Details
- ISSN :
- 10967192
- Volume :
- 99
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism
- Accession number :
- edsair.doi.dedup.....fdfd705646917312bdc59de9df6e1b79