Success Story

Stem Cell Transplant Brings Promise of Remission for Those with Rare ‘Stiff Person Syndrome’

Responding to a patient’s ardent request, the Medical Director of the Ottawa Hospital Research Institute applied a stem cell treatment, used for autoimmune diseases, to a rare brain disease characterized by debilitating muscle stiffness and spasms. It has stopped the disease, and improved the patients’ quality of life beyond measure.

It started with one patient. A woman with one of the rarest and most debilitating neurological diseases, dubbed ‘stiff person syndrome (SPS),’ contacted Dr. Harold Atkins, Medical Director and Scientist at the Ottawa Hospital Research Institute (OHRI). She begged him to perform a stem cell transplant on her, knowing that this treatment had worked for others with different autoimmune diseases.

Encouraged by the success of stem cell transplants on other diseases, Atkins prudently made the decision to go ahead. And he was right: This new stem cell transplantation, although not a cure, prevented the disease from progressing and left the patient well enough to return to normal activities. In fact, quality of life for these patients has improved exponentially.

This breakthrough is the first documented case that proves that taking stem cells from a person’s own body can produce long-lasting remission of SPS. The case studies for the first two patients were published in the esteemed Journal of the American Medical Association JAMA Neurology in August 2014.

“The results achieved by Dr. Atkins and his team through this innovative treatment show how research at The Ottawa Hospital can lead to life-changing and, even life-saving care,” says Dr. Duncan Stewart, Chief Executive Officer and Scientific Director of OHRI. “Translating research into better care for patients is what we’re all about at the research institute.”

Dr. Atkins
Dr. Harold Atkins, Ottawa Hospital Research Institute (OHRI). Photo courtesy of OHRI.

Syndrome of Mysterious Origin, Affects More Women than Men

SPS occurs when the person’s immune system turns against their own tissues ‒ in this case, attacking cells in the spinal cord and brain. Although the cause is unknown, it can be triggered during periods of emotional stress. Some researchers believe it is the result of an autoimmune reaction, and it is often associated with other autoimmune diseases including diabetes. In fact, more than 50% of all SPS patients have or will develop diabetes. An increased incidence of epilepsy has also been observed.

SPS, which affects one in a million (mainly women in mid-life), is characterized by fluctuating muscle rigidity in the trunk and limbs and an enhanced sensitivity to external stimuli, such as loud noises. These stimuli trigger muscle spasms that lead to abnormal postures and stiffening. This syndrome can leave those who are afflicted with the disorder standing like tin soldiers, unable to move their bodies normally.

Existing treatments were not very effective. SPS patients were given medications such as muscle relaxants, anti-anxiety drugs and pain relievers to manage the symptoms. Not all patients got relief from the drugs.

Treatment Allows Immune System to Rebuild Itself

Atkins’ treatment takes stem cells from the patient’s body, uses chemotherapy to wipe out the immune system and then transplants the purified stem cells back, allowing a new immune system to grow.

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This idea was not entirely new. Stem cell transplants have been used for decades to treat leukemia. At The Ottawa Hospital, the exact same kind of stem cell transplantation had been used to successfully treat patients suffering from other autoimmune diseases, such as multiple sclerosis (MS), which can be resistant to more conventional treatments.

Atkins logically applied this previous experience, garnered from a clinical trial conducted on MS, to SPS. Without this, he would not have had the baseline information to determine that this was a reasonable treatment.

There are significant risks, however. Atkins cites a one-in-20 risk of death from complications for patients who receive stem cell transplants for leukemia and lymphoma. Furthermore, complications from the chemotherapy can include infertility and premature disorders such as heart disease and diabetes.

Unsure as to how long the remission will last, Atkins emphasizes that the procedure is not a proven cure and, because of the risks, urges other doctors to turn first to conventional treatments for SPS.

Patients Now in Remission

The first stem cell transplants for SPS have already proven successful: Patient 1, diagnosed with this syndrome in 2005 at age 48, has seen her symptoms disappear. Six months after having received the stem cell transplant procedure in 2009, she was fully mobile again.

One of Atkins’ patients, Tina Ceroni of Toronto (interviewed in this month’s ‘Open Dialogue’ column), was diagnosed with SPS in 2007 at age 30. She has now been able to return to her work and previous activities. She has not had any symptoms of her disease in more than a year.

“Seeing these patients resume their normal lives is every physician’s dream,” Atkins says.

To read an interview with patient Tina Ceroni: http://bit.ly/1xtZppC. For the JAMA Neurology article: http://bit.ly/1smD7I7. For The Ottawa Hospital press release: http://bit.ly/1ypzkMQ. For information for patients on bone marrow stem cell transplant for rare autoimmune diseases: http://bit.ly/1B42vBa.