Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
| Autor: | Amy S. Rosenberg, Hanna Mandel, Paula Goldenberg, Stephanie L. Dearmey, Daniel K. Benjamin, Dwight D. Koeberl, Yuan-Tsong Chen, Deeksha Bali, Priya S. Kishnani, James H. Heller, Jennifer S. Li, Sue Ann Smith, Sarah P. Young |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
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 |
| Zdroj: | Molecular Genetics and Metabolism. 99:26-33 |
| ISSN: | 1096-7192 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect