Résumé :
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Since 2007, patients with late onset Pompe disease can be treated by recombinant human acid alpha glucosidase. Four patients were treated: 3 men and one woman. The woman was 35 old. She complained difficulties for walking and climbing stairs since 19 years old. Since 26, she could not stand up from a chair without help or carry her child. At 31 she used a wheelchair and at 33 she needed non invasive ventilation. One of the men was the first patient’s brother: he was 50. The disease started when he was 40. He had walking disability but he did not need any help. He had no respiratory failure. The two others patients were 60 and 68 years old. The Pompe disease begun for 4 years. They had walking disability and both needed non invasive ventilatory. For all, the diagnosis was performed on muscle biopsy and decreased alpha glucosidase level in muscle and leucocytes. After six months of treatment (20mg/kg twice a month), the patients feld better and one reduced the duration of non invasive ventilation and could stand up longer. Measurement tests confirmed this impression: the total MFM score and the SF36 scale improved slightly for all. For one, the duration of non invasive ventilation decreased to 10hours/day, for the three others, the six minutes walking test improved until 30% . No adverse event was observed. After six months of treatment the quality of life of patients seems increased and clinical signs improved.
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