1. Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
- Author
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Nadir M. Maraldi, Francesca Gualandi, Enrico Bertini, Paolo Bernardi, Alessandra Ferlini, M.E. Michelini, Luciano Merlini, A. Franchella, Paolo Grumati, Alessia Angelin, Saverio Gnudi, Annarita Armaroli, Patrizia Sabatelli, Paolo Bonaldo, Merlini, Luciano, Sabatelli, Patrizia, Armaroli, Annarita, Gnudi, Saverio, Angelin, Alessia, Grumati, Paolo, Michelini, Maria Elena, Franchella, Andrea, Gualandi, Francesca, Bertini, Enrico, Maraldi, Nadir Mario, Ferlini, Alessandra, Bonaldo, Paolo, Bernardi, Paolo, Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, and Bernardi P.
- Subjects
Male ,Aging ,respiratory muscles ,Apoptosis ,Biochemistry ,Muscular Dystrophies ,0302 clinical medicine ,respiratory function ,Collagen VI ,Enzyme Inhibitor ,Respiratory function ,Enzyme Inhibitors ,Respiratory system ,Muscular dystrophy ,Child ,Muscular Dystrophie ,Membrane Potential, Mitochondrial ,0303 health sciences ,lcsh:Cytology ,motor function ,General Medicine ,Anatomy ,Diaphragm (structural system) ,Clinical trial ,Child, Preschool ,Cyclosporine ,Female ,Research Article ,Human ,medicine.medical_specialty ,Article Subject ,Ullrich congenital muscular dystrophy ,Urology ,Collagen Type VI ,Biology ,Cyclosporins ,03 medical and health sciences ,apoptotic ,mitochondrial dysfunction ,muscle rigeneration ,medicine ,Humans ,Regeneration ,Muscle Strength ,lcsh:QH573-671 ,Muscle, Skeletal ,030304 developmental biology ,Sclerosis ,Apoptosi ,Cell Biology ,medicine.disease ,Mutation ,Muscle strength ,030217 neurology & neurosurgery - Abstract
Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5–9, received 3–5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P=0.01) in 5 of the 6 patients. Motor function did not change. Respiratory function deteriorated in all. CsA treatment corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic nuclei. Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients, and that it is well tolerated. These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised.
- Published
- 2011
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