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Spinal muscular atrophy (SMA) is a rare hereditary genetic condition in which muscles throughout the body are weakened because nerve cells in the spinal cord and brainstem do not work properly. SMA is the number one genetic cause of infant mortality.

Due to the success of clinical trials, the 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 multispecialty SMA team helped to develop standardized 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.

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Our team is among the researchers involved in the ongoing FIREFISH trial, which provided some of the clinical information leading to ridsiplam’s FDA approval. This trial, and others we participate in, will continue to investigate risdiplam in participants for several years.

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For more information about SMA gene therapy or to refer a patient, contact the Spinal Muscular Atrophy Program at 617-919-6814.

Boston Children’s is one of the first pediatric hospitals in the nation to offer an FDA-approved gene therapy for the treatment of spinal muscular atrophy in children less than 2 years of age. Known by the brand name Zolgensma®, this gene therapy prevents further motor neuron and muscle degeneration by replacing the defective or missing SMN1 gene.

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As yet, there is no complete cure for SMA. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA — a gene replacement therapy called Zolgensma, and two drugs, called nusinersen (Spinraza) and risdiplam (Evyrsdi). All three treatments were tested in clinical trials at Boston Children’s Hospital and elsewhere prior to their approval by the U.S. Food and Drug Administration (FDA).

Symptoms of spinal muscular atrophy (SMA) vary greatly depending on the type. Children with the more serious form of SMA (Type 1) usually have more severe symptoms that are noticeable within the first six months of life. Those with milder forms have less severe symptoms that may not be noticeable until the child is 18 months or older.

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Known formerly as AVXS-101, this one-time gene therapy treatment replaces the defective or missing gene (SMN1), which is responsible for making the survival motor neuron (SMN) protein. Providing a functional copy of SMN1 prevents motor neurons and muscles from degenerating further.

Since 2016, Boston Children’s Spinal Muscular Atrophy Program has been actively involved in the key clinical trials for risdiplam (brand name Evrysdi), the first oral drug treatment for SMA. Risdiplam is the third treatment for SMA and was FDA approved in 2020 for use in children 2 months and older.

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The Department of Neurology cares for infants, children, and adolescents with all types of neurologic and developmental disorders.

SMA is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Doctors usually diagnose SMA after a child has muscle weakness and decreased muscle tone.

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The gene affected in SMA is the “survival of motor neuron” gene (SMN1 and SMN2). In 95 percent of SMA cases, both copies of the SMN1 gene are missing. All people with SMA have a number of copies of the SMN2 gene. But the SMN2 gene produces only a small amount of functional SMN protein; the more copies of the SMN2 gene a child has, the milder the disease.

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If someone in your family has SMA, your chance of being an SMA carrier significantly increases. When both parents are carriers, there is a 1 in 4 (25 percent) chance with each pregnancy that they will have a child with SMA.

Before receiving the gene therapy, children first have blood tests to make sure patients qualify for the treatment. Zolgensma® is given through an intravenous (IV) infusion at our treatment center. The infusion takes about one hour.

The Spinal Muscular Atrophy Program brings together specialists who are experienced in caring for children with this rare condition. Learn more.

Our program was also involved in clinical trials of nusinersen (brand name Spinraza), the first drug treatment for SMA. We were the first hospital in the world to enroll an infant with type 1 SMA in the phase 3 ENDEAR trial in 2014.

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SMA is an autosomal recessive disease. This means that (most of the time) both parents must carry the genetic mutation for a child to have the condition.

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The Care for Children with Medical Complexity program strives to provide high quality of care across the continuum to more than 4,000 children with medical complexity.

The Spinal Muscular Atrophy Program at Boston Children’s Hospital brings together a team of experts from different specialties experienced in caring for children with SMA. We hold a dedicated SMA clinic once or twice a month so that your child can receive all of their SMA-related care in a single visit. This approach means that our various specialists can all work closely with your family to make sure your child’s care is well coordinated. Our program offers several therapy choices, including gene therapy, for SMA.

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