Current advances in drug development in spinal muscular atrophy.
OBJECTIVE
Spinal muscular atrophy (SMA) is a pediatric neuromuscular condition characterized by progressive proximal muscle weakness. It is one of the most common genetic causes of infant mortality across different races and is caused by mutation of the survival of motor neuron 1 (SMN1) gene on chromosome 5q13.


RESULTS
To date, there have been many therapeutics developments for SMA targeting various potential pathways such as increasing SMN gene expression, enhancing SMN2 exon 7 inclusion, neuroprotection, cell replacement, and gene therapy.


CONCLUSIONS
Although SMA remains an incurable disease to date, recent advances in the field of basic and translational research have enhanced our understanding of the pathogenesis of the disease and opened new possibilities for therapeutic intervention. This article reviews and highlights past and current translational research on SMA therapeutics.
aDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston bSaint Vincent Hospital, Worcester, USA *Priyamvada Singh and Wendy K.M. Liew contributed equally to the writing of this article.
Priyamvada
P
Singh
Wendy K M
WK
Liew
Basil T
BT
Darras
D000818:Animals; D002648:Child; D002675:Child, Preschool; D004195:Disease Models, Animal; D015195:Drug Design; D005260:Female; D015316:Genetic Therapy / Q000379:methods* / Q000639:trends; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D008297:Male; D051379:Mice; D009134:Muscular Atrophy, Spinal / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000187:drug effects* / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D018696:Neuroprotective Agents / Q000494:pharmacology; D033581:Stem Cell Transplantation / Q000379:methods* / Q000639:trends; D055533:Survival of Motor Neuron 1 Protein / Q000187:drug effects* / Q000235:genetics / Q000378:metabolism; D055540:Survival of Motor Neuron 2 Protein / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D014635:Valproic Acid / Q000627:therapeutic use
D009419:Nerve Tissue Proteins; D018696:Neuroprotective Agents; C526471:SMN1 protein, human; C526477:SMN2 protein, human; C526472:Smn1 protein, mouse; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein; D014635:Valproic Acid; D006918:Hydroxyurea