Gene therapy to repair the injured nervous system

Monica Sousa


    Monica Sousa


    i3S – Instituto de Investigação e Inovação em Saúde da Universidade do Porto – Associação, Portugal


    Approximately 2.5 million people worldwide live with a traumatic spinal cord injury (SCI). Furthermore, there are 5 million new cases of peripheral nerve injury (PNI) yearly. Unfortunately, there are no therapies capable of regenerating damaged nerves, so patients often experience permanent loss of function. Diana Machado and team have identified active profilin1 (Pfn1) as an axon regeneration enhancer following sciatic nerve and spinal cord injury.

    The lack of effective therapies to regenerate nerves damaged in a spinal cord or peripheral nerve injury means that patients suffer permanent neurologic deficits and disabilities. These can range from loss of motor control in limbs to injury affecting the systems that regulate breathing. Beyond the social and economic burden, people with a SCI are two to five times more likely to die prematurely, according to WHO.

    The researchers have identified profilin-1 (Pfn1) as a central player in axon regeneration. Their data show that systemic delivery (prior to injury) of active Pfn1 through adeno-associated viruses strongly enhances axon regeneration and functional recovery in vivo (in mice and rats) following either sciatic nerve or spinal cord injury.

    Given the innovative nature and translational strength of these data, an International Patent application was issued and validated in the United States, Canada, Europe and China covering the use of Pfn1 in nervous system injury and disease.