Celine Dion stiff person syndrome breakthrough - scientists may have found a cure

Celine Dion stiff person syndrome breakthrough - scientists may have found a cure Celine Dion brought stiff person syndrome to global attention and now scientists are trialling a gene therapy that appears to halt terrifying 'statue' attacks Scientists may have found a cure for a rare condition called stiff person syndrome (SPS) which affects singing superstar Celine Dion. The little-understood condition came to global attention after the pop star announced she had been diagnosed in 2022. Now, a gene therapy which corrects faulty DNA has been shown to reverse stiffness in the body, spine, arms, legs and face. It was previously understood there was no cure for SPS, which gets progressively worse and management focuses on controlling symptoms such as muscle spasms. But patients in a small clinical trial saw dramatic improvements after being given CAR-T cell therapy, which teaches the body's immune system to recognise and attack the cells causing disease. To see more of the stories you love from The Mirror just click on the link here to find them at the top of your feed. Researcher Dr Anastasia Zekeridou, a neurologist at the Mayo Clinic in Rochester in the US which led the trial, said: "What was most striking was the degree of improvement we saw in some patients. With existing treatments, we may be able to improve symptoms, but we very rarely see patients return to their previous level of function.” My Heart Will Go On singer Celine Dion, dubbed the "Queen of Power Ballads", shocked fans in December 2022 when announcing her SPS diagnosis in a tearful video describing debilitating spasms affecting her body, limbs and vocal cords. Loud noises and stress can trigger an attack which travels up the body in minutes, causing it to lock in a stiff position. Such attacks come with painful spasms and struggles breathing and sufferers can black out. CAR-T therapy works by harvesting a patient's own immune cells, called T cells, and genetically engineering them to be able to recognise and kill the cells in the body which cause disease. They are then multiplied in a laboratory and infused back into the body. The new trial sought to enrol 27 participants at different hospitals across the US and two have spoken out about the improvements they have seen following the gene therapy. Shari St Germain, who was diagnosed in 2021, had been suffering symptoms such as severe leg cramps and difficulty walking. Hearing a sudden noise could trigger muscle rigidity causing her to fall. Standard treatments were no longer controlling her symptoms, but in the months after receiving CAR-T, she began noticing improvements, such as being able to walk on a treadmill again. Shari said: "After the treatment, I got up one day and I'm like `I'm feeling really good', and I went to walk on the treadmill. My husband comes running in because I'm crying and he's like `Are you OK?' And I'm like, `I just walked for seven minutes on the treadmill'... So every day, it just gets better and better." SPS affects an estimated 8,000 people worldwide and is thought to be an autoimmune condition, where the immune system attacks healthy cells by mistake. Participant Jonathan Walden had reached the point where walking and basic daily tasks required help from his family. Following CAR-T, he has now returned to work and outdoor activities. He said: "I can go to work every single day. I can do everything I did before. I go hunting; I can go fishing. I have not had one episode since receiving treatment. It has so far been the best thing I've ever done." Celine Dion, 58, told how she had symptoms for 17 years before she was formally diagnosed with SPS in 2022. In the 2024 documentary I Am: Céline Dion, she shared the reality of the condition speaking about muscle spasms so severe they cracked her ribs, left her struggling to breathe and swallow. The Grammy-winning singer from Canada has been able to return to performing and has spoken about her intense recovery regime that includes medication, physical therapy, vocal therapy and immunotherapy. The new study, published in Jama Neurology, could now lead to larger trials in people with SPS. Dr Sean Pittock, chairman of the department of neurology at Mayo Clinic, said: "CAR-T therapy has already transformed the treatment of some cancers, and we are now beginning to see its potential in autoimmune neurologic diseases. "The results in stiff person syndrome offer tremendous hope, not only for people living with this disease but potentially for patients with other immune-mediated neurologic conditions where effective treatment options remain limited.” SPS affects an estimated 8,000 people worldwide. Scientists still do not fully understand how it affects multiple parts of the body such as the brain, brainstem and spinal cord. SPS affects twice as many women as men and most people develop symptoms between the ages of 20 and 60. Dr Zekeridou added: "These early results are very encouraging, and the key question now is whether those improvements will be sustained over time."