Spinal Muscular Atrophy Program

Our innovative approach

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 Children’s Hospital Boston, we are actively involved in several areas of research on SMA:

• natural history studies
• clinical trials
• basic scientific studies
• medication trials

Natural history studies

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 Children’s Hospital Boston, 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.

Clinical trials

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 Children’s have developed new outcome measures, some of which are now being used by other centers. 

Basic scientific studies

Researchers at Children’s are working to better understand SMA at the cellular and molecular level. In the laboratory of 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.
 

Medication trials

We are starting 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 will look at the safety and tolerability of a new drug that has 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 .    

To learn more

Boston SMA Days

Each spring, the Children’s Neurology department presents a Boston SMA Day, a one-day conference that brings together researchers and families to share the most up-to-date information on spinal muscular atrophy. Researchers from both Children’s and elsewhere in Boston participate, and the event is open to the public. Check the Events tab for current information.

Newsletters from our SMA Program
For updates on our research and other news about our clinic, see our newsletters, which are posted on the Resources for families tab.

Search for clinical trials
You can search for clinical studies at Children’s here. To look for clinical trials at other centers, use the links provided on the Resources for families tab.

Participating in our clinical research is completely optional, and our care of your child will never be affected if you decline to enroll her in a study. If you are interested in participating in a study, we will take care to fully explain all elements of the treatment plan prior to the start of the trial, and you may remove your child from the study at any time.

You and your child may want to view Children speak: What it’s like to be a medical research subject, a video about children participating in clinical studies at Children’s. One of the patients in our Spinal Muscular Atrophy Program is interviewed.