Spinal Muscular Atrophy Program

Spinal Muscular Atrophy Program

Children with spinal muscular atrophy (SMA) need care from experts in several medical fields. The Spinal Muscular Atrophy Program at Boston Children’s Hospital brings together a team of specialists who are experienced in caring for children with this rare and complex condition.

Our expertise

Our SMA program is devoted to providing comprehensive care for children with spinal muscular atrophy (SMA). Directed by Basil Darras, MD, our program brings together specialists from a variety of fields including:

  • neurology
  • genetics
  • orthopedics
  • physical therapy
  • respiratory/pulmonary
  • nutrition
  • gastroenterology
  • anesthesiology
  • surgery 
  • social work

Gene therapy for SMA (Zolgensma)

We provide the first FDA-approved gene replacement therapy for children with SMA less than two years of age — a promising treatment that delivers functional copies of the mutated gene to affected cells. Learn more about SMA gene therapy and the Boston Children’s Gene Therapy Program.

Nusinersen (Spinraza) trials and treatment

Boston Children’s SMA Program has been involved in clinical trials of nusinersen (brand name Spinraza), an exciting new treatment for SMA, since 2011. We were the first in the world to enroll a type I patient in the phase 3 ENDEAR trial in 2014.

Due to the success of clinical trials, the U.S. Food and Drug Administration (FDA) approved the use of nusinersen for SMA in children and adults in 2016, and we began offering the drug to all eligible SMA patients. Our multi-specialty SMA team helped to develop standard ways to measure patients’ SMA symptoms and the changes in these symptoms over time. These results are being used to measure the effectiveness of nusinersen and other treatments.

The SMA Program at Boston Children’s is supported by the Spinal Muscular Atrophy Foundation and CureSMA.

A dedicated SMA clinic

We hold a dedicated SMA clinic once a month. The clinic allows you to meet with all of your child’s SMA-related providers during a single visit. It also gives us the opportunity to evaluate your child’s health as a whole and to work with your family to make the best treatment decisions.

During clinic, our core team of physicians, specialists and therapists sees patients together. When you come for an appointment during this clinic, your child will see several kinds of specialists:

  • neurology
  • genetics
  • orthopedics
  • physical therapy
  • nutrition/gastroenterology
  • respiratory/pulmonary

Our clinic also gives you the chance to meet other families affected by SMA and to learn about research opportunities.

Home respiratory support

The Critical Care, Anesthesia Perioperative Extension (CAPE) and Home Ventilation Program provides comprehensive services to help families plan for their child’s discharge from the hospital and manage respiratory care at home. The program also evaluates home respiratory equipment and is available 24 hours a day for consultation and support.

Experienced specialists

Our clinical teams are experienced in caring for children with SMA. For example, children with SMA can have complications when having anesthesia because of weakness in the respiratory muscles. Our team of anesthesiologists understands SMA and has the expertise to safely provide anesthesia for our SMA patients.

For families whose children are facing an especially difficult prognosis, we put them in touch with the Pediatric Advanced Care Team at Boston Children’s. This group can provide comfort and support for you and your child as you make choices about treatment.

State-of-the-art diagnostics

We use a number of different tests to help us accurately diagnose your child and evaluate his or her condition. Our program takes advantage of several superb clinical and laboratory resources at Boston Children’s, including:

Innovation and research

Physicians and researchers at Boston Children’s make clinical innovation and research on SMA a priority. We work every day to improve the care we provide to our patients and their families.