Screening and Treating SMA Early: Lucy’s Story

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Novartis Gene Therapies—ZOLGENSMA® (onasemnogene abeparvovec-xioi) suspension for intravenous infusion is a gene therapy indicated for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA). ZOLGENSMA has a Boxed Warning for Acute Serious Liver Injury and Acute Liver Failure. Please continue reading below for Important Safety Information and please see accompanying Full Prescribing Information.

Lucy in ballpit

For SMA, early treatment is critical for optimizing patient outcomes

Motor neuron loss in SMA is progressive and irreversible. Newborn screening programs play a key role in identifying and treating children with SMA as quickly as possible to maximize the potential benefits of treatment.1

This is the story of Lucy, who was diagnosed with SMA at 11 days old, and the impact newborn screening had on her treatment journey.2

Lucy’s newborn screening story

Before she was born, Lucy’s parents had never heard of SMA, and didn’t know they were genetic carriers. They first heard about SMA when Lucy’s newborn screening results indicated she may have the disease. A genetic test confirmed the diagnosis and identified Lucy as having 2 copies of the backup SMN2 gene.2

Alongside their neurologist, Lucy’s family considered their treatment options and ultimately chose ZOLGENSMA. As her mother, Ashley, said, “Our doctor wanted Lucy to receive ZOLGENSMA because she saw very promising results. She said that it stops the disease progression.”2

Lucy eating

Before treatment, Lucy was presymptomatic and had no signs of SMA. Lucy was treated with ZOLGENSMA at ~5 weeks old. “For her to be treated so young, to meet so many of these milestones, for us it exceeded anything we could have expected,” her mother said.

More than a year has passed since Lucy’s treatment day, and she’s crawling, using her hands, and climbing over the furniture. Lucy is also achieving developmental milestones, such as sitting with support and both standing supported and independently for several seconds.2 Although Lucy was treated presymptomatically and shows no signs of SMA, she and her family continue to work with a care team for ongoing support, such as physical therapy, to continually track her progress and milestones.2

Read Lucy’s patient profile for her full story here.

Lucy standing

Lucy is one of many children who have been treated with ZOLGENSMA presymptomatically. The Phase 3 SPR1NT trial, which is now complete, studied 2 cohorts of presymptomatic patients.3

Detailed efficacy and safety data are available at

Results and outcomes vary among children based on several factors, including how far their SMA symptoms progressed before receiving treatment.1

Indication and Important Safety Information


ZOLGENSMA is an adeno-associated virus vector-based gene therapy indicated for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene.

Limitations of Use

The safety and effectiveness of repeat administration or the use in patients with advanced SMA (e.g., complete paralysis of limbs, permanent ventilator dependence) has not been evaluated with ZOLGENSMA.

Important Safety Information

BOXED WARNING: Acute Serious Liver Injury and Acute Liver Failure

Acute serious liver injury, acute liver failure, and elevated aminotransferases can occur with ZOLGENSMA. Patients with preexisting liver impairment may be at higher risk. Prior to infusion, assess liver function of all patients by clinical examination and laboratory testing (e.g., hepatic aminotransferases [aspartate aminotransferase (AST) and alanine aminotransferase (ALT)], total bilirubin, and prothrombin time). Administer a systemic corticosteroid to all patients before and after ZOLGENSMA infusion. Continue to monitor liver function for at least 3 months after infusion.



Transient decreases in platelet counts, some of which met the criteria for thrombocytopenia, were typically observed within the first two weeks after ZOLGENSMA infusion. Monitor platelet counts before ZOLGENSMA infusion and on a regular basis for at least 3 months afterwards.

Thrombotic Microangiopathy

Cases of thrombotic microangiopathy (TMA) were reported approximately 1 week after ZOLGENSMA infusion. Obtain baseline creatinine and complete blood count before ZOLGENSMA infusion. Following infusion, monitor for thrombocytopenia as well as other signs and symptoms of TMA. Consult a pediatric hematologist and/or pediatric nephrologist immediately to manage if clinically indicated.

Elevated Troponin-I

Increases in cardiac troponin-I levels were observed following ZOLGENSMA infusion. Monitor troponin-I before ZOLGENSMA infusion and on a regular basis for at least 3 months afterwards.


The most commonly observed adverse reactions (incidence ≥5%) in clinical studies were elevated aminotransferases and vomiting.

Please click here for Full Prescribing Information for ZOLGENSMA.

References: 1. Glascock J, Sampson J, Haidet-Phillips A, et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis. 2018;5(2):145-158. 2. Data on file. Novartis Gene Therapies, Inc. 2021. 3. Novartis Gene Therapies, Inc. Pre-symptomatic study of intravenous onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) for patients with multiple copies of SMN2 (SPR1NT). identifier: NCT03505099. Updated January 11, 2022. Accessed June 13, 2022.

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