Gene Therapy Program

FDA-Approved Gene Therapies | Zolgensma for SMA

Boston Children’s Hospital is one of the first pediatric hospitals in the nation to offer an FDA-approved gene therapy for the treatment of spinal muscular atrophy (SMA). Known by the brand name Zolgensma®, formerly AVXS-101, this gene therapy prevents further motor neuron and muscle degeneration by replacing the defective or missing gene (SMN1) that causes SMA.

The SMN1 gene is responsible for making the survival motor neuron (SMN) protein. Just like its namesake, it is necessary for survival. Without a functional copy of SMN1, the motor neurons degenerate, leading to the signs and symptoms of SMA.

How does SMA gene therapy work? 

  1. Infused into a vein during a 60-minute procedure, a genetically engineered carrier, called a vector, delivers a functional copy of the SMN1 gene to cells. Only one dose is needed.
  2. Once the material is injected, the vector delivers the healthy SMN1 gene to cells throughout the body, crossing the blood-brain barrier to reach the cells in the spinal cord. 
  3. When the healthy SMN1 gene reaches a child's cells, it begins producing normally-functioning SMN protein, thereby improving motor neuron function and survival.

Who is eligible?

SMA gene therapy will be available for the treatment of children with SMA less than 2 years of age. This restriction is based on the population and dose approved by the FDA.

For more information about whether SMA gene therapy is right for you or your child, or to refer a patient, contact:

Spinal Muscle Atrophy Program

For general information on the Gene Therapy Program contact:

Colleen Dansereau, RN
Gene Therapy Director of Clinical Operations

The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere.

Kevin B. Churchwell, President and CEO

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