Believing in a cure
Jennie Ogden remembers the first time she heard the term Spinal Muscular Atrophy. “I didn’t know what it was, but I knew the word atrophy was serious.”
Jennie’s daughter, Sophie Blair, was in hospital with a lung infection. She had been in hospital before for some tests because at the age of 15 months Sophie was not able to pull herself up, one of the key milestones for developing babies.
When Dr. Craig Campbell began to see Sophie, he found that her muscles were weak and not moving as they should. He is the head of Paediatric Neurology at Children’s Hospital, London Health Sciences Centre (LHSC) and a researcher with Children’s Health Research Institute, a program of Lawson Health Research Institute (Lawson).
Results of a blood test showed Sophie had Spinal Muscular Atrophy (SMA).
SMA is a rare genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, which travel between the brainstem, spinal cord and muscles.
This leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up and controlling head movement. In severe cases of SMA, the muscles used for breathing and swallowing are affected.
“Without a cure or effective treatment, a diagnosis of SMA is often devastating for a family. All we can do is try and stay one step ahead - treat symptoms, prevent problems and manage any pain,” says Dr. Campbell.
Two years ago, Dr. Campbell told Jennie about clinical trials for a newly developed drug that may change the future for children and families living with SMA.
Nusinersen, marketed as SPINRAZA, is the first treatment shown to improve motor function and reduce weakness for those with SMA, and is going through multinational clinical trials.
Through Lawson, Dr. Campbell became involved in the phase 3 trial, a randomized control study, with London as one of only four clinical trial sites in Canada.
Sophie was among the first enrolled in the trial.
“Sophie didn’t have the lung infections she would usually develop in the winter,” says Jennie. “Her muscle mass stopped declining and she’s started to bulk up. She is now able to lift her hands above her head.”
“One of the most exciting changes was that Sophie can now shuffle on her bum,” she adds. “We were used to staying in place wherever she was. One day, she scooted under a table, giggling and hiding. She has never been able to move like that on her own.”
Dr. Campbell continues to follow the children in the study long-term to systematically measure the benefits of treatment over time. The drug is now approved in Canada but is still not widely available. He hopes that soon more children who could benefit will get access.
The paediatric neuromuscular clinic at Children’s Hospital, LHSC, follows about 20 children with SMA. The dedicated team of clinical and research staff work together to care for children with severe neuromuscular disorders and offer research opportunities.
“Clinical research fills the gap between the lab and the prescription pad when it comes to new treatment. And it’s the partnership between patients, families, clinicians, scientists and industry that will most successfully address the unique needs of those being treated for a rare disease,” says Dr. Campbell.
“Based on the care we received and opportunity to participate in research, we’ve decided to stay in London rather than move elsewhere. We truly have one of the best hospitals in the country,” says Jennie.
She is trying to keep her hopes for Sophie humble. “My biggest concern is that we avoid having to use assistive devices for breathing.”
When she grows up, Sophie wants to be a wedding dressmaker. For now, Sophie’s biggest goal is to be able to stand on her own.
This article is adapted from Lawson Link magazine. To read the full article, visit www.lawsonresearch.ca/lawsonlink.