Spinal muscular atrophy

M Oskoui, P Kaufmann - Neurotherapeutics, 2008 - Springer
M Oskoui, P Kaufmann
Neurotherapeutics, 2008Springer
Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular
disease frequently manifesting in infancy and childhood. The discovery of the underlying
mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical
research, leading to treatment targets and transgenic mouse models, but there is still no
effective treatment. The clinical severity is inversely related to the copy number of SMN2, a
modifying gene producing some full-length SMN transcript. Drugs shown to increase SMN2 …
Summary
Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular disease frequently manifesting in infancy and childhood. The discovery of the underlying mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical research, leading to treatment targets and transgenic mouse models, but there is still no effective treatment. The clinical severity is inversely related to the copy number of SMN2, a modifying gene producing some full-length SMN transcript. Drugs shown to increase SMN2 function in vitro, therefore, have the potential to benefit patients with SMA. Because several drugs are now on the horizon of clinical investigation, we review recent clinical trials for SMA and discuss the challenges and opportunities associated with SMA drug development. Although an orphan disease, SMA is well-positioned for successful trials given that it has a common genetic etiology in most cases, that it can be readily diagnosed, that preclinical research in vitro and in transgenic animals has identified candidate compounds, and that trial networks have been established.
Springer