NYC Gazette

Researchers at the University of Pittsburgh have found a way to potentially enhance leg strength in patients with spinal muscular atrophy (SMA) using spinal stimulation. This groundbreaking clinical trial was inspired by earlier research conducted by Columbia University’s George Mentis, a professor at the Columbia Vagelos College of Physicians and Surgeons.

The trial began by placing electrodes in the lumbar region of the spinal cord of three SMA patients, including 57-year-old Doug McCullough, who had relied on canes or a wheelchair due to the debilitating effects of SMA. Patient Doug McCullough reflected on the experience, telling an NPR reporter, "My legs just felt supercharged. It's like, man, I feel like I can walk a mile."

The research by George Mentis focused on defects in the SMN1 gene linked to SMA. Mentis demonstrated that synapses between sensory and motor neurons malfunction, impairing motor neuron function and leading to muscle weakness. By stimulating these synapses, the researchers aimed to reverse SMA’s effects in mice, a result they hoped to replicate in humans.

The trial, conducted in 2023, tested epidural spinal stimulation, initially developed for stroke patients by University of Pittsburgh neuroscientist Marco Capogrosso. The treatment showed promising results with volunteers seeing a 180% increase in leg strength, a 40% longer step length, and an 85-foot improvement in walking endurance, according to a report published in Nature Medicine.

George Mentis expressed his astonishment, stating, "It worked so well, above and beyond all our expectations." However, the benefits diminished months after the trial ended, indicating the need for ongoing treatment. Despite this, the therapy offers potential beyond existing treatments, which only manage SMA symptoms without enhancing walking capabilities.

Although the devices were only temporarily implanted for the trial, the results have motivated efforts for further testing, especially in more severely affected, younger patients. Capogrosso plans a larger scale trial, exploring long-term efficacy, while Mentis aims to delve deeper into neuronal mechanisms.

SMA affects approximately 25,000 patients in the U.S., including Doug McCullough, who are eagerly anticipating advancements from these promising clinical trials.