Spinal Muscular Atrophy (SMA) pediatric research and clinical trials

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Contact the Spinal Muscular Atrophy Program

Boston Children’s Hospital has the world’s largest research program at a pediatric institution, and we are known for pioneering new treatments. A large part of our success comes from our commitment to research and to advancing the frontiers of what’s possible through our innovative ideas. 

Part of our innovative method is a collaborative approach in which we partner with other hospitals and pharmaceutical companies to combine our resources and expertise to help find a cure for SMA.

Boston Children’s Hospital Partners with Isis Pharmaceuticals

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 drug that had been shown to increase survival of motor neuron (SMN) protein production. In 95 percent of SMA cases, the SMN1 gene is absent.  This drug could potentially have beneficial therapeutic outcomes for people with SMA, meaning it could help reduce the symptoms of SMA by inducing a second gene, known as SMN2, to produce more protein.

Children's Hospital joined large research network to study SMA in 2004

Boston Children's Hospital is one of four sites - along with Columbia University Medical Center in New York, the Children's Hospital of Philadelphia, and University of Rochester Medical Center - that make up the Pediatric Neuromuscular Clinical Research Network (PNCR) for SMA.

At these hospitals, individuals have participated in a major natural history study of SMA that looks at strength, movement, quality of life and medical history of people with the disease. The study's purpose was to better understand how the disorder progresses and to prepare for potential medication trials. Additionally, there is an ongoing study collecting blood, urine, saliva and tissue samples of people with SMA to create a bio-repository to help with future SMA research. Basil Darras, MD, leads Children’s Hospital Boston’s SMA research program.

If you are interested in participating in SMA research, please contact:

 Heather Szelag, Clinical Research Coordinator

 T: 617-355-2752, e-mail: heather.szelag@childrens.havard.edu

 Tim Harrington, Clinical Research Coordinator

 T: 857-218-4677,  e-mail: timothy.harrington@childrens.harvard.edu

Testing a new way to track SMA's course

Researchers at Children's Hospital has been evaluating a new method aimed at reliably measuring nerve changes in individuals with SMA , using a technique known as electrical impedance myography (EIM).

Understanding the development of SMA

Mustafa Sahin, MD, PhD, is studying the molecular pathology of SMA, or how the disease develops. Specifically, his lab is testing and exploring the role of axonal RNA regulation in SMA. Learn more about SMA research at the Sahin lab.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944