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Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Neuromuscul Disord 2011; 21(7):477-82ND

Abstract

Pompe disease is a rare metabolic myopathy caused by lysosomal α-glucosidase deficiency. Pompe disease ranges from a rapidly progressive course when symptoms present in infancy to a more slowly progressive rate when symptoms present in childhood or adulthood. This open-label prospective exploratory study investigated the effect of 12 months of recombinant enzyme replacement therapy in 5 adult patients who had already advanced to a very severe stage of Pompe disease. Muscular and respiratory function, quantitative muscle testing and spirometry were assessed. Four patients were tracheostomized. Respiratory parameters did not deteriorate. A moderate improvement in sitting/supine slow vital capacity in 2 patients (from 7% to 11% and 28% to 32% of predicted) and reductions of ventilation support in 2 patients was observed. Three patients, wheelchair bound at baseline, improved sitting and proximal motor function; 2 patients improved in their ability to stand and transfer. The treatment was well tolerated. Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease.

Authors+Show Affiliations

Medical Intensive Care Unit, Raymond Poincaré Teaching Hospital, Garches, France. david.orlikowski@rpc.aphp.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial
Journal Article

Language

eng

PubMed ID

21550241

Citation

Orlikowski, David, et al. "Recombinant Human Acid Alpha-glucosidase (rhGAA) in Adult Patients With Severe Respiratory Failure Due to Pompe Disease." Neuromuscular Disorders : NMD, vol. 21, no. 7, 2011, pp. 477-82.
Orlikowski D, Pellegrini N, Prigent H, et al. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord. 2011;21(7):477-82.
Orlikowski, D., Pellegrini, N., Prigent, H., Laforêt, P., Carlier, R., Carlier, P., ... Annane, D. (2011). Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscular Disorders : NMD, 21(7), pp. 477-82. doi:10.1016/j.nmd.2011.04.001.
Orlikowski D, et al. Recombinant Human Acid Alpha-glucosidase (rhGAA) in Adult Patients With Severe Respiratory Failure Due to Pompe Disease. Neuromuscul Disord. 2011;21(7):477-82. PubMed PMID: 21550241.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. AU - Orlikowski,David, AU - Pellegrini,Nadine, AU - Prigent,Hélène, AU - Laforêt,Pascal, AU - Carlier,Robert, AU - Carlier,Pierre, AU - Eymard,Bruno, AU - Lofaso,Frédéric, AU - Annane,Djillali, Y1 - 2011/05/06/ PY - 2011/01/28/received PY - 2011/04/06/accepted PY - 2011/5/10/entrez PY - 2011/5/10/pubmed PY - 2011/12/13/medline SP - 477 EP - 82 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 21 IS - 7 N2 - Pompe disease is a rare metabolic myopathy caused by lysosomal α-glucosidase deficiency. Pompe disease ranges from a rapidly progressive course when symptoms present in infancy to a more slowly progressive rate when symptoms present in childhood or adulthood. This open-label prospective exploratory study investigated the effect of 12 months of recombinant enzyme replacement therapy in 5 adult patients who had already advanced to a very severe stage of Pompe disease. Muscular and respiratory function, quantitative muscle testing and spirometry were assessed. Four patients were tracheostomized. Respiratory parameters did not deteriorate. A moderate improvement in sitting/supine slow vital capacity in 2 patients (from 7% to 11% and 28% to 32% of predicted) and reductions of ventilation support in 2 patients was observed. Three patients, wheelchair bound at baseline, improved sitting and proximal motor function; 2 patients improved in their ability to stand and transfer. The treatment was well tolerated. Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/21550241/Recombinant_human_acid_alpha_glucosidase__rhGAA__in_adult_patients_with_severe_respiratory_failure_due_to_Pompe_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(11)00111-8 DB - PRIME DP - Unbound Medicine ER -