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Research on spinal muscular atrophy (SMA) is moving forward quickly. The search for a treatment or cure has gained momentum among university researchers, pharmaceutical companies, and funding agencies.
Here at Boston Children’s Hospital, we are actively involved in several areas of research on SMA:
Researchers have found that in order to better understand SMA and to plan clinical trials, we need to learn more about the progression, or “natural history,” of the disease. So members of our Spinal Muscular Atrophy Program at Children’s are participating in a long-term natural history study.
This study was conducted through the Pediatric Neuromuscular Clinical Research (PNCR) Network, a collaboration between doctors and families at Boston Children’s Hospital, Columbia University Medical Center and Children’s Hospital of Philadelphia. The goal of this group has always been is to offer a medication trial. The results of the 12-month natural history study have been published already and the 12-month to 48-month results will be published in the near future.
When researchers and physicians conduct clinical trials of new drugs and therapies, they need to have standardized systems for measuring the symptoms of children with SMA so they can know whether the new therapy is helping. Unfortunately, the measurement systems, or “outcome measures,” that are currently available are not perfect. As a result, the specialists in our Spinal Muscular Atrophy Program at Boston Children’s have developed new outcome measures, some of which are now being used by other centers.
Researchers at Boston Children’s are working to better understand SMA at the cellular and molecular level. In the laboratory of Boston Children’s neurologist Mustafa Sahin, MD, PhD, scientists are studying proteins that are associated with the SMA protein, SMN. While most forms of SMA are related to alterations in the SMN protein, these other proteins are thought to play important roles in the disease.
We completed a phase I drug study with Isis Pharmaceuticals to help test the safety of a new drug that could help people with SMA. This study looked at the safety and tolerability of a new drug that had been shown to increase the production of the survival of motor neuron (SMN) protein. In 95 percent of SMA cases, the SMN1 gene is absent. By inducing a second gene, known as SMN2, to produce more protein, this drug could potentially help reduce the symptoms of SMA and have beneficial therapeutic outcomes .
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