Repositioning drugs to treat spinal muscular atrophy

Piotr Konieczny

Universitat de València, Spain

Spinal muscular atrophy (SMA) is caused by the absence of the SMN1 gene and affects 1 in 7000-10,000 people worldwide. The disease, characterized by muscle weakness and wasting, has five clinical types (0 to IV), ranging in severity from absence of motor function and perinatal death, to minor defects with no significant lifespan reduction.

In recent years, three drugs have been approved to treat SMA, but they all have medical limitations for use in less severe adult forms of the illness and are extremely expensive. Additionally, the consequences of their long-term use are unknown.

The team has identified two drugs which have shown an excellent safety profile in chronic use. Furthermore, preclinical validation in SMA type II mice showed a remarkable rescue of motor functions and an increase in SMN protein levels in the spinal cord. The goal is to explore the repurposing of at least one of these drugs and to to validate its use in SMA patients.