Objective: To assess the safety and efficacy of chronic ACE inhibitor treatment in a pilot trial involving a small number of patients with McArdle’s disease. Background/rationale. McArdle’s disease is a muscle glycogenosis due to myophosphorylase deficiency causing various degrees of muscle performance impairment for which no effective therapy is currently available. A polymorphic trait in the ACE gene, associated with different levels of ACE activity and involved in muscle response to endurance training has been recently suggested as a possible modulator of McArdle’s disease phenotype. Chronic therapy with ACE inhibitors, simulating the condition associated with the haplotype showing lower ACE activity improves VO2max and muscle performance with cardiopathy or mild hypetension (Guazzi 1999, Onder 2002). In patients with McArdle’s disease chronic ACE inhibition may be beneficial in improving muscle performance. Description of the Project: In a double blind randomized controlled multiple N of 1 trial we will test the ability of 12 weeks chronic therapy with ramipril 2.5 mg or placebo to improve muscle performance in patients with molecularly and biochemically characterized myophosphorylase deficiency. Muscle performance will be assessed by repeated exercise testing with measurement of VO2max, maximal workload, subjective perception of tolerance to exercise and functional limitation in activity of daily living. Each participant will complete a pair of treatment periods in which he will be randomly assigned to active drug or placebo. Both patient and observer will be blinded as to the nature of the medication given. Anticipated outcome: Our hypothesis assumes that at least some patient will demonstrate better measures of both objective and subjective muscle performance after the period in which he assumed the active drug. Particular attention will be given to the analysis of results in order to establish degree of changes observed, and genetic and functional characteristics of the patients most likely to show significant improvement The pilot trial will be of particular importance in view of larger therapeutic trials in patients with McArdle’s disease.

Pilot study of ACE inhibitor in McArdle’s disease”. Comitato Telethon Fondazione Onlus (progetto n. GUP030501)

LODI, RAFFAELE
2004

Abstract

Objective: To assess the safety and efficacy of chronic ACE inhibitor treatment in a pilot trial involving a small number of patients with McArdle’s disease. Background/rationale. McArdle’s disease is a muscle glycogenosis due to myophosphorylase deficiency causing various degrees of muscle performance impairment for which no effective therapy is currently available. A polymorphic trait in the ACE gene, associated with different levels of ACE activity and involved in muscle response to endurance training has been recently suggested as a possible modulator of McArdle’s disease phenotype. Chronic therapy with ACE inhibitors, simulating the condition associated with the haplotype showing lower ACE activity improves VO2max and muscle performance with cardiopathy or mild hypetension (Guazzi 1999, Onder 2002). In patients with McArdle’s disease chronic ACE inhibition may be beneficial in improving muscle performance. Description of the Project: In a double blind randomized controlled multiple N of 1 trial we will test the ability of 12 weeks chronic therapy with ramipril 2.5 mg or placebo to improve muscle performance in patients with molecularly and biochemically characterized myophosphorylase deficiency. Muscle performance will be assessed by repeated exercise testing with measurement of VO2max, maximal workload, subjective perception of tolerance to exercise and functional limitation in activity of daily living. Each participant will complete a pair of treatment periods in which he will be randomly assigned to active drug or placebo. Both patient and observer will be blinded as to the nature of the medication given. Anticipated outcome: Our hypothesis assumes that at least some patient will demonstrate better measures of both objective and subjective muscle performance after the period in which he assumed the active drug. Particular attention will be given to the analysis of results in order to establish degree of changes observed, and genetic and functional characteristics of the patients most likely to show significant improvement The pilot trial will be of particular importance in view of larger therapeutic trials in patients with McArdle’s disease.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/56648
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