TY - JOUR
T1 - Childhood spinal muscular atrophy
T2 - Controversies and challenges
AU - Mercuri, Eugenio
AU - Bertini, Enrico
AU - Iannaccone, Susan T.
N1 - Funding Information:
EM is a site principal investigator for the PTC Therapeutics (South Plainfield, NJ, USA) extension study of ataluren in Duchenne muscular dystrophy, for the TROPHOS (Marseille, France) clinical trial in spinal muscular atrophy, and for a GlaxoSmithKline study of exon skipping. He is also funded by Italian Telethon and SMA Europe for observational studies of outcome measures. He has been on the advisory board for Shire and PTC Therapeutics. EB is a site principal investigator for the PTC extension study of ataluren in Duchenne muscular dystrophy, for the TROPHOS clinical trial in spinal muscular atrophy, and for a GlaxoSmithKline study of exon skipping. He is also funded by Italian Telethon, the Italian Ministry of Health, and SMA Europe for observational studies of outcome measures. STI is a site principal investigator for the PTC extension study of ataluren in Duchenne muscular dystrophy and receives funding from GlaxoSmithKline, ISIS (Carlsbad, CA, USA), DuchEnne Muscular Dystrophy Long-term IdebenOne Study, and DART (Great Barrington, MA, USA) for clinical studies of spinal muscular atrophy and Duchenne muscular dystrophy. She has also received expenses from these companies for attendance at investigator meetings. She is co-principal investigator for the NeuroNEXT project funded by the US National Institute of Neurological Disorders and Stroke, for which she receives a salary. She is supported by the Muscular Dystrophy Association for her neuromuscular clinics.
PY - 2012/5
Y1 - 2012/5
N2 - Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular atrophy is highly variable and no cure is available at present. Consensus has been reached on several aspects of care, the availability of which can have a substantial effect on prognosis, but controversies remain. The development of standards of care for children with the disorder and the identification of promising treatment strategies have changed the natural history of spinal muscular atrophy, and the prospects are good for further improvements in function, quality of life, and survival. A long-term benefit for patients will be the development of effective interventions (such as antisense oligonucleotides), some of which are in clinical trials. The need to be prepared for clinical trials has been the impetus for a remarkable and unprecedented cooperation between clinicians, scientists, industry, government, and volunteer organisations on an international scale.
AB - Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular atrophy is highly variable and no cure is available at present. Consensus has been reached on several aspects of care, the availability of which can have a substantial effect on prognosis, but controversies remain. The development of standards of care for children with the disorder and the identification of promising treatment strategies have changed the natural history of spinal muscular atrophy, and the prospects are good for further improvements in function, quality of life, and survival. A long-term benefit for patients will be the development of effective interventions (such as antisense oligonucleotides), some of which are in clinical trials. The need to be prepared for clinical trials has been the impetus for a remarkable and unprecedented cooperation between clinicians, scientists, industry, government, and volunteer organisations on an international scale.
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U2 - 10.1016/S1474-4422(12)70061-3
DO - 10.1016/S1474-4422(12)70061-3
M3 - Review article
C2 - 22516079
AN - SCOPUS:84859816485
SN - 1474-4422
VL - 11
SP - 443
EP - 452
JO - The Lancet Neurology
JF - The Lancet Neurology
IS - 5
ER -