Health Alert for Parents: How one boy is thriving following treatment with a gene therapy after receiving an early diagnosis – PR Newswire

Two years ago, a mother received a phone call with a devastating diagnosis. That mother shares her son's experience with spinal muscular atrophy (SMA), a rare genetic disease, and how early diagnosis and treatment transformed his life.

BANNOCKBURN, Ill., Oct.12, 2022 /PRNewswire/ --

BACKGROUND:

Hannah Weaver did not think much about her son Payne's newborn screening test until she received a phone call five days after bringing him home from the hospital. The results showed Payne tested positive for spinal muscular atrophy (SMA), a rare, progressive neuromuscular disease and a leading genetic cause of infant death when left untreated that affects one in every 11,000 babies born in the U.S.1,2 SMA causes irreversible loss of motor neurons, which can rob infants of their ability to walk, swallow and even breathe.1,2 If left untreated in its most severe forms, 90% of children require permanent feeding and breathing support or pass away by their second birthday.3,4 SMA can progress quickly, making early diagnosis and treatment crucial.

Experience the full interactive Multichannel News Release here: https://www.multivu.com/players/English/9064751-novartis-spinal-muscular-atrophy-health-alert/

Knowing it was imperative to act fast, the Weaver family worked quickly to schedule appointments with specialists to discuss treatment options. Payne's care team went over the available treatment options for SMA, discussing the route of administration and available efficacy and safety data of each. Together, they decided to treat Payne when he was just a few weeks old with a gene therapy called ZOLGENSMA (onasemnogene abeparvovec-xioi), the only SMA treatment designed to directly address the genetic root cause of the disease by replacing the function of the missing or non-working SMN1 gene with a single, one-time dose.

Zolgensma has a boxed warning for acute serious liver injury and acute liver failure. In clinical trials, the most common side effects were elevated liver enzymes and vomiting. Please keep reading for additional important safety information and please see accompanying Full Prescribing Information.

Payne's parents are now able to plan for his future something that would not be possible without early intervention and treatment. They look forward to what he will accomplish next and celebrate every milestone along the way. On the heels of SMA Awareness Month, we kick off Newborn Screening Awareness Month this September, and Hannah is advocating for parents and physicians to recognize the early signs of SMA to avoid a delayed diagnosis.

Dr. Sandra Reyna (Vice President of Global Medical Affairs at Novartis Gene Therapies) and Hannah Weaver (SMA parent advocate) shared information on the signs of SMA, the importance of an early diagnosis, and how Zolgensma has the potential to transform the lives of babies born with this disease.

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

Please continue reading for Indication and Important Safety Information, and please see accompanying Full Prescribing Information including Boxed Warning.

For more information, please visit: http://www.Zolgensma.com

Interview opportunities are courtesy of Novartis Gene Therapies.

About Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disease and a leading genetic cause of infant death.3,5Caused by the lack of a functional SMN1 gene, the most severe forms of SMA result in the rapid and irreversible loss of motor neurons, affecting muscle functions including breathing, swallowing and basic movement.1Severity varies across a spectrum of types corresponding to the number of copies of the back-up SMN2 gene.6The majority of patients with two copies of SMN2 develop Type 1, the most common form accounting for 60 percent of cases.4,7,8Type 1 is severe and, left untreated, leads to death or the need for permanent ventilation by the age of two in more than 90 percent of cases.3,5Most patients with three copies of SMN2 develop Type 2, accounting for about 30 percent of cases.4,8 Loss of motor neurons cannot be reversed, so it is imperative to diagnose SMA and begin treatment, including proactive supportive care, as early as possible to halt irreversible motor neuron loss and disease progression.9,10

IndicationandImportant Safety InformationforZOLGENSMA(onasemnogeneabeparvovec-xioi)

Whatis 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.

WhatisthemostimportantinformationIshouldknowaboutZOLGENSMA?

Whatshould Iwatchforbeforeandafterinfusion withZOLGENSMA?

WhatdoIneedtoknowaboutvaccinationsandZOLGENSMA?

DoIneedtotakeprecautionswiththepatient'sbodilywaste?

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.

Whatarethepossible orlikelysideeffectsof ZOLGENSMA?

The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liverenzymesandvomiting.

The safety information provided here is not comprehensive. Talk to the patient's doctor about anysideeffects thatbotherthepatientorthatdon'tgoaway.

You are encouraged to report suspected side effects by contacting the FDA at 1-800-FDA-1088 orwww.fda.gov/medwatch,orNovartis GeneTherapiesat833-828-3947.

Please see the Full Prescribing Information.

2022 Novartis Gene Therapies, Inc.

US-ZOL-22-0136

References

MEDIA CONTACT: Katie Lesch, [emailprotected]

SOURCE Novartis Gene Therapies

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Health Alert for Parents: How one boy is thriving following treatment with a gene therapy after receiving an early diagnosis - PR Newswire