Mayo Clinic CAR-T trial: Stiff person syndrome patients regain mobility

A potential breakthrough in treating stiff person syndrome (SPS), the condition affecting singer Celine Dion, has emerged from a clinical trial in the United States. According to the Mirror ^[1], scientists may have found a way to reverse the debilitating stiffness associated with this rare autoimmune disorder using CAR-T cell therapy. The study, published in Jama Neurology, details how patients who previously struggled with basic daily tasks have regained significant mobility.

The research was led by doctors at the Mayo Clinic, as reported by the Guardian ^[2]. CAR-T therapy, which is already used to treat certain cancers, works by reprogramming a patient’s own immune cells to identify and destroy disease-causing cells. In this case, T cells were extracted, genetically engineered, multiplied, and infused back into the participants to attack the specific triggers of SPS.

Dr Anastasia Zekeridou, a neurologist at the Mayo Clinic, told the Mirror ^[1] that the degree of improvement was striking. "With existing treatments, we may be able to improve symptoms, but we very rarely see patients return to their previous level of function," she said. This distinction between symptom management and functional recovery marks a pivotal shift in how SPS is approached.

Two trial participants shared their stories with the Independent ^[3]. Jonathan Walden, who had become reliant on family for help with walking, reported returning to work and hobbies. "I have not had one episode since receiving treatment," Walden said. He described taking the risk of the trial as "the best thing I've ever done."

Shari St Germain, diagnosed in 2021, experienced severe leg cramps and falls triggered by sudden noises. After the therapy, she was able to walk on a treadmill for seven minutes, a milestone that brought her to tears. "Every day, it just gets better and better," she told the Mirror ^[1].

Celine Dion, 58, announced her SPS diagnosis in December 2022, revealing that spasms had cracked her ribs and affected her voice. She has since returned to performing, supported by a rigorous recovery regime. SPS affects an estimated 8,000 people worldwide, predominantly women, and is characterised by muscle rigidity and painful spasms.

Dr Sean Pittock, chair of neurology at Mayo Clinic, stated that the results offer "tremendous hope" not just for SPS patients, but for others with immune-mediated neurologic conditions. However, Dr Zekeridou cautioned that the key question remains whether these improvements will be sustained over time. Larger trials are now being considered to confirm these early findings.