Therapeutic gene target and repurposed drugs for spinal muscular atrophy

Therapeutic gene target and repurposed drugs for spinal muscular atrophy for tech transfer

Spinal Muscular Atrophy (SMA) is a rare genetic condition affecting approximately 1 in 8.000 births, caused by the absence or mutation of the survival motor neuron 1 gene, which causes the progressive degeneration of nerve cells in the spinal cord, leading to muscle weakness and atrophy. As a degenerative disease, SMA gets worse over time, affecting daily activities and resulting in loss of movement or even death if it remains untreated.

Currently, there is no cure for SMA, and the few available treatments attempt to increase SMN protein levels, through a copy of the gene improving the patient’s symptomatology in the last place. One of the most limiting aspects is the high cost of these treatments, which is why research is moving towards other approaches for the development of new treatment options, such as drug screening and drug repurposing. This strategy has gained popularity due to the time and cost reduction it entails, which is particularly important in the field of rare diseases.

Researchers from the Universidad Pablo de Olavide (UPO) from the Department of Molecular Biology and Biochemical Engineering, have identified a novel therapeutic gene target whose inhibition will increase SMN protein levels, in addition of three repurposed drugs that can modify the expression of this new target, being an approach to discover alternative treatments for spinal muscular atrophy.

The technology proposed consists of three generic drugs that show modulation of SMN protein expression and offer an alternative treatment for SMA patients. They inhibit the novel modifier gene, , leading to an increase in SMN levels, and thus correlating with an improvement in the condition of patients.


  • Both new advanced and repositioning therapies could be developed for the new therapeutic target found.
  • It provides a more accessible option for patients with SMA.
  • It can be a faster and more cost-effective route to development, since drug repurposing facilitates clinical trials and reduces their cost.

The represented institution is looking for a collaboration that leads to commercial exploitation of the presented invention.

Institution: Universidad Pablo de Olavide (UPO)

TRL: 2-3

Protection status: Patent application pending

Contact: Noelia Mas /