Spinal muscular atrophy is a disease caused by the absence of the SMN1 gene. It affects one in every 7,000 to 10,000 people worldwide and is characterised by muscle weakness and atrophy. It is classified into five clinical types (from 0 to 4) and its severity ranges from the absence of motor function and perinatal death to minor defects without a significant reduction in life expectancy.

Three drugs have been approved to treat it in recent years, but all have medical limitations for use in the less severe forms of the disease in adults and are extremely expensive. Furthermore, the consequences of its prolonged use are unknown.

The University of Valencia team has identified two drugs that have been shown to have an excellent safety profile in their chronic use. “The preclinical validation of these in SMA type II in mice and motor neurons –with preclinical data obtained in collaboration with project partners from the University of Turin and INSERM Paris– has shown that they favour an outstanding recovery of motor functions and an increase of SMN protein levels in the spinal cord and skeletal muscles”, highlighted Piotr Konieczny, director of the project ‘Repositioning of drugs for the treatment of spinal muscular atrophy’. “This proposal seeks to validate the use of at least one of these drugs in patients with SMA”, he stressed.

For his part, Rubén Artero, director of the UV Translational Genomics Laboratory, professor of Genetics and project advisor, has pointed out: “thanks to this support we are approaching the phase of clinical trials to test the effect of these drugs in patients with AME. The project provides the necessary know-how to set up a spin-off company in a very applied way, which will allow us to bring the new therapy to the market and fulfil the mission we have in the Translational Genomics laboratory”.

The project directed by Piotr Konieczny is one of the 20 new projects selected (out of 136 submitted) in the CaixaResearch Validate and Consolidate 2021 calls. Specifically, in the CaixaResearch Validate call, aimed at early innovation projects, the “la Caixa” Foundation will support 17 new projects of the 97 presented. The beneficiaries will receive up to 100,000 euros to validate their technologies and design a roadmap to enhance them. Of these, twelve come from research centres, universities and hospitals in Catalonia; three from Portugal; one from Galicia, and one from the Valencian Community.

Other beneficiaries

Among the projects this year are one of personalised immunotherapy to treat Ewing’s sarcoma; new electrodes to detect neurological pathologies in neonates; a controlled release drug therapy using nanoparticles for spinal cord injuries and an inhibitor to stop colon cancer metastasis, among others. Nine of the projects selected this year are in the field of therapies and drug development, and eleven are in the field of medtech, which includes diagnostic techniques, medical devices and digital health projects.

The “la Caixa” Foundation launched this program in 2015 in collaboration with Caixa Capital Risc and with the support of the European Institute of Innovation and Technology (EIT Health). Since then, 13 million euros have been allocated to 151 initiatives, 27 of which have already become spin-off companies.

In addition to financial support, the research staff receives support consisting of specialised training in key areas (such as technology transfer, financing tools or negotiations) and mentoring with which to define the best recovery plans, in the case of Validate, and their development and marketing plans in a personalised way, in the case of Consolidate.