Details

Autor(en) / Beteiligte

• Kishnani, Priya Sunil
• Nicolino, Marc
• Voit, Thomas
• Rogers, R. Curtis
• Tsai, Anne Chun-Hui
• Waterson, John
• Herman, Gail E.
• Amalfitano, Andreas
• Thurberg, Beth L.
• Richards, Susan
• Davison, Mark
• Corzo, Deyanira
• Chen, Y.T.

Titel

Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

Ist Teil von

• The Journal of pediatrics, 2006-07, Vol.149 (1), p.89-97

Ort / Verlag

New York, NY: Mosby, Inc

Erscheinungsjahr

2006

Link zum Volltext

Quelle

Access via ScienceDirect (Elsevier)

Beschreibungen/Notizen

• To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid α-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease. We enrolled 8 infant patients who had Pompe disease with GAA activity <1% of normal, cardiomyopathy, and hypotonia. In the 52-week initial phase, rhGAA was infused intravenously at 10 mg/kg weekly; an extension phase continued survivors’ treatment with 10 to 20 mg/kg of rhGAA weekly or 20 mg/kg every 2 weeks for as long as 153 weeks. Safety measurements included adverse events, laboratory tests, and anti-rhGAA antibody titers. Efficacy evaluations included survival, ventilator use, echocardiograms, growth, and motor and cognitive function. After 52 weeks of treatment, 6 of 8 patients were alive, and 5 patients were free of invasive ventilator support. Clinical improvements included ameliorated cardiomyopathy and improved growth and cognition. Five patients acquired new motor milestones; 3 patients walked independently. Four patients died after the initial study phase; the median age at death or treatment withdrawal for all patients was 21.7 months, significantly later than expected for patients who were not treated. Treatment was safe and well tolerated; no death was drug-related. rhGAA improved ventilator-free survival, cardiomyopathy, growth, and motor function in patients with infantile-onset Pompe disease compared with outcomes expected for patients without treatment.