Baby Treated for Rare Disease Shortly After Birth Reaching New Milestones

(BPT) – When Jessica and Brad first brought their baby, Waylon, home from the hospital after four days in the NICU, they thought they were in the clear.Unfortunately, just one day after the family’s return home, a geneticist called with devastating news from his newborn screening results: Waylon had spinal muscular atrophy (SMA), and follow-up testing revealed that it would most likely be Type 1. Without treatment, doctors told the new parents that Waylon was unlikely to make it to his second birthday.SMA is a rare, progressive disease that, left untreated in its most severe forms, robs infants of their ability to walk, swallow and even breathe.1 It is caused by the lack of a functional survival motor neuron 1 (SMN1) gene, which results in the irreversible loss of motor neurons. Diagnosing and treating SMA quickly is crucial to stopping progression of the disease.Jessica and Brad immediately met with Waylon’s care team to discuss treatment options and see what would be best for him. Fortunately, treatment for SMA has advanced significantly in the past decade, and there are now three FDA approved options available. Patients and caregivers should talk to their doctor about options before deciding what is right for them.”When we were talking to the neurologists about what to do, they told us we have to go with what treatment option we think is best,” said Jessica. “They went over everything, how each one was administered, treatment regimens, what we could expect and available data. We talked to his team and went with what we thought was the best fit for Waylon.”Preferring a one-time treatment option, the parents decided to move forward with Zolgensma® (onasemnogene abeparvovec-xioi), a gene therapy delivered through an intravenous infusion.2 Approved in the U.S. in May 2019 for children less than 2 years old with SMA, Zolgensma targets the genetic root cause of the disease by replacing the function of the SMN1 gene, halting disease progression. Clinical data for Zolgensma reinforce the transformational benefit when used early. The SPR1NT study evaluated the efficacy and safety of ZOLGENSMA in presymptomatic patients younger than 6 weeks of age diagnosed with SMA, with 2 or 3 copies of the SMN2 backup gene. All 14 patients with 2 copies of SMN2 could sit independently by 18 months of age, and all 15 patients with 3 copies of SMN2 could stand alone by 24 months of age.3,4Before and after the Zolgensma infusion, Waylon received an oral corticosteroid. All children treated with Zolgensma need to receive an oral corticosteroid starting the day before infusion, and then after infusion for at least two months or longer depending on their liver function exams and labs.2 In addition, baseline and follow-up tests are required for at least three months post-infusion. Zolgensma has a risk of acute serious liver injury and acute liver failure, and in clinical trials the most common side effects were elevated liver enzymes and vomiting. Please see additional Important Safety Information below and accompanying Full Prescribing Information.At just 27 days old, Waylon received the one-time gene therapy.“We were drawn to Zolgensma because it’s a one-time dose that treats the genetic root cause of the disease,” said Jessica. “When we walked out of the hospital after he was treated, it was a relief to know Waylon now had a working copy of the gene he needed.”Now a year after his Zolgensma treatment, Waylon is reaching milestones that would not have been possible for children with SMA less than a decade ago. He loves rolling towards his toys during playtime, is sitting all on his own, and lately has been learning how to use his walker to get around.“We find ourselves celebrating the smallest milestones,” explained Jessica. “The fact that he can’t sit still because he wants to be able to move makes me happy. And while I get a little aggravated when he throws food on the ground at restaurants, I’m so thankful that he can do that. The fact that Waylon was diagnosed with SMA so quickly after birth, and that he was treated so soon after that, changed his future.”For more information about SMA and the importance of early diagnosis and treatment, visit ActOnSMA.org.Results and outcomes vary among children based on several factors, including how far their SMA symptoms have progressed prior to receiving treatment.Indication and Important Safety Information for ZOLGENSMA® (onasemnogene abeparvovec-xioi)What is ZOLGENSMA?ZOLGENSMA is a prescription gene therapy used to treat children less than 2 years old with spinal muscular atrophy (SMA). ZOLGENSMA is given as a one-time infusion into a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.What is the most important information I should know about ZOLGENSMA?ZOLGENSMA can increase liver enzyme levels and cause acute serious liver injury or acute liver failure.Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.Contact the patient’s doctor immediately if the patient’s skin and/or whites of the eyes appear yellowish, if the patient misses a dose of corticosteroid or vomits it up, or if the patient experiences a decrease in alertness.What should I watch for before and after infusion with ZOLGENSMA?Infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient’s doctor immediately if you see any signs of a possible infection such as coughing, wheezing, sneezing, runny nose, sore throat, or fever.Decreased platelet counts could occur following infusion with ZOLGENSMA. Seek immediate medical attention if the patient experiences unexpected bleeding or bruising.Thrombotic microangiopathy (TMA) has been reported to occur approximately one week after ZOLGENSMA infusion. Caregivers should seek immediate medical attention if the patient experiences any signs or symptoms of TMA, such as unexpected bruising or bleeding, seizures, or decreased urine output.What do I need to know about vaccinations and ZOLGENSMA?Talk with the patient’s doctor to decide if adjustments to the vaccination schedule are needed to accommodate treatment with a corticosteroid.Protection against respiratory syncytial virus (RSV) is recommended.Do I need to take precautions with the patient’s bodily waste?Temporarily, small amounts of ZOLGENSMA may be found in the patient’s stool. Use good hand hygiene when coming into direct contact with bodily waste for 1 month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.What are the possible or likely side effects of ZOLGENSMA?The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liver enzymes and vomiting.The safety information provided here is not comprehensive. Talk to the patient’s doctor about any side effects that bother the patient or that don’t go away.You are encouraged to report suspected side effects by contacting the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch, or Novartis Gene Therapies, Inc. at 833-828-3947.Please see the Full Prescribing Information.ReferencesSugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27-32. https://doi.org/10.1038/ejhg.2011.134ZOLGENSMA [prescribing information]. Bannockburn, IL: Novartis Gene Therapies, Inc; 2021.Strauss KA, Farrar MA, Muntoni F, et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat Med. 2022;28:1381-1389.Strauss, KA, Farrar, MA, Muntoni, F. et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 2022;28:1390-1397© 2022 Novartis Gene Therapies, Inc.Bannockburn, IL 60015US-ZOL-22-0101 08/2022