C. van Capelle

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid alpha-glucosidase. In 2006 enzyme therapy with recombinant human alpha-glucosidase received marketing approval based on studies in infants. Results in older children and adults are awaited. Earlier we reported on the 3-year follow-up data of enzyme therapy in two adolescents and one adult. In the present study these patients were followed for another 5 years. Two severely affected patients, wheelchair and ventilator dependent, who had shown stabilization of pulmonary and muscle function in the first 3 years, maintained this stabilization over the 5-year extension period. In addition patients became more independent in daily life activities and quality of life improved. The third moderately affected patient had shown a remarkable improvement in muscle strength and regained the ability to walk over the first period. He showed further improvement of strength and reached normal values for age during the extension phase. The results indicate that both long-term follow-up and timing of treatment are important topics for future studies.

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.

Childhood Pompe disease: Clinical spectrum and genotype in 31 children

G.P.11 Characteristic skeletal muscle imaging patterns in Japanese patients with Pompe disease K. Ishigaki *, H. Kobayashi , H. Sugie , T. Fukuda , T. Murakami , T. Sato , K. Ishiguro , M. Shichiji , S. Nagata , M. Osawa , Y. Eto , I. Nonaka 6 1 Tokyo Women’s Medical University, School of Medicine, Pediatrics, Tokyo, Japan; 2 The Jikei University, School of Medicine, Pediatrics, Tokyo, Japan; 3 Tokoha University, Occupational Therapy, Medical Science, Hamamatsu, Japan; 4 Hamamatsu University, School of Medicine, Pediatrics, Hamamatsu, Japan; 5 Advanced Clinical Research Center, Institute of Neurological Disorders, Kawasaki, Japan; 6 National Center of Neurology and Psychiatry, Tokyo, Japan