New approaches for the treatment of metabolic myopathies;Nouveautés dans le traitement des myopathies métaboliques

Revue Neurologique

Volumn 163, Issue 10, 2007, Pages 930-935

  Laforet P ^a   Nicolino, M ^b,c   Eymard, B ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL DEBROUSSE   (France)

^c UNIVERSITÉ LYON 1   (France)

Author keywords

CPTII deficiency; McArdle's disease; Metabolic myopathy; Myophosphorylase deficiency; Pompe's disease

Indexed keywords

BEZAFIBRATE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE II; FIBRIC ACID DERIVATIVE; GLUCAN 1,4 ALPHA GLUCOSIDASE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; UNCLASSIFIED DRUG;

AEROBIC EXERCISE; CHILDHOOD; CLINICAL TRIAL; ENZYME DEFICIENCY; ENZYME REPLACEMENT; GLYCOGEN STORAGE DISEASE TYPE 2; GLYCOGEN STORAGE DISEASE TYPE 5; HEART FUNCTION; HUMAN; LIFE EXPECTANCY; MITOCHONDRIAL MYOPATHY; NONHUMAN; OPEN STUDY; REVIEW;

EID: 36248948113     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0035-3787(07)92636-3     Document Type: Article

References (23)

1. AMALFITANO A, BENGUR AR, MORSE RP et al. (2001). Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med, 3: 132-138.
2. CEJUDO P, BAUTISTA J, MONTEMAYOR T et al. (2005). Exercise training in mitochondrial myopathies: a randomized controlled trial. Muscle Nerve, 32: 342-350.
3. DJOUADI F, BONNEFONT JP, THUILLIER L et al. (2003). Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate. Pediatr Res, 54: 446-451.
4. JEPPESEN TD, SCHWARTZ M, OLSEN DB et al. (2006). Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain, 129: 3402-3412.
5. HALLER RG, WYRICK P, TAIVASSALO T et al. (2006). Aerobic conditioning: an effective therapy in McArdle's disease. Ann Neurol, 59: 922-928.
6. HIRSCHHORN R, REUSER AJ. (2001). Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. New York, McGraw-Hill, pp. 3389-3420.
7. KISHNANI PS, HWU WL, MANDEL H, NICOLINO M, YONG F, CORZO D. (2006). Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr, 148: 671-676.
8. KISHNANI P, CORZO D, NICOLINO M et al. (2007). Recombinant Human Acid α-Glucosidase: Major Clinical Benefits in Patients with Infantile-Onset Pompe Disease. Neurology, 68: 99-109.
9. KLINGE L, STRAUB V, NEUDORF U et al. (2005). Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord, 15: 24-31.
10. LAFORET P, NICOLINO M, EYMARD B et al. (2000). Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology, 55: 1122-1128.
11. OLLIVIER K, HOGREL JY, GOMEZ-MERINO D et al. (2005). Effets d'un entraînement en endurance sur des patients atteints de la maladie de McArdle. Science et sport, 20 : 21-26.
12. SICILIANO C, MANCA L, RENNA M, PRONTERA C, MERCURI A, MURRI L. (2000). Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies. Neuromuscul Disord, 10: 40-45.
13. TAIVASSALO T, MATTHEWS PM, DE STEFANO N et al. (1996). Combined aerobic training and dichloracetate improve exercise capacity and indices of aerobic metabolism in muscle cytochrome oxidase deficiency. Neurology, 47: 529-534.
14. TAIVASSALO T, DE STEFANO N, MATTHEWS PM et al. (1997). Aerobic training benefits patients with mitochondrial myopathies more than other chronic myopathies. Neurology, 48: A214.
15. TAIVASSALO T, DE STEFANO N, ARGOV Z et al. (1998). Effects of aerobic training in patients with mitochondrial myopathies. Neurology, 50: 1055-1060.
16. TAIVASSALO T, SHOUBRIDGE EA, CHEN JEC et al. (2001). Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical and genetic effects. Ann Neurol, 50: 133-141.
17. TAIVASSALO T, GARDNER J, TAYLOR RW et al. (2006). Endurance training and detraining in mitochondrial myopathies due to lage-scale mtDNA deletions. Brain, 129: 3391-33401.
18. THUILLIER L, ROSTANE H, DEMAUGRE F et al. (2003). Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltansferase 2 deficiency. Hum Mut, 21: 493-501.
19. VAN DEN HOUT H, REUSER AJ, VULTO AG, LOONEN MC, CROMME-DIJKHUIS A, VAN DER PLOEG AT. (2000). Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet, 356: 397-398.
20. VAN DEN HOUT JM, REUSER AJ, DE KLERK JB, ARTS WF, SMEITINK JA, VAN DER PLOEG AT. (2001). Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis, 24: 266-274.
21. VAN DEN HOUT JM, KAMPHOVEN JH, WINKEL LP et al. (2004). Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics, 113: 448-457.
22. VISSING J, HALLER RG. (2003). The effect of oral sucrose on exercise tolerance in McArdle's disease. N Engl J Med, 349: 2503-2509.
23. WINKEL LPF, VAN DEN HOUT JMP, KAMPHOVEN JHJ et al. (2004). Enzyme replacement therapy in lat-onset Pompe's disease: a three-year follow-up. Ann Neurol, 55: 495-502.