(BPT) - When Nicole Clark’s son Brady was born, he was reaching his normal early milestones: holding his head up on his own, sitting and crawling. But when Nicole’s energetic and seemingly healthy nine-month baby boy started to struggle to pull himself up, Nicole knew something wasn’t quite right.
“My husband and I immediately enrolled Brady in occupational therapy when we noticed he was struggling to stand,” said Nicole. “We had no idea what journey we were about to face.”
Brady’s therapist suggested Nicole and her husband Tyler take him to a neurologist for further testing and evaluation. Shortly after, Brady was diagnosed with spinal muscular atrophy (SMA) Type 2. SMA is a rare, progressive disease that, left untreated, robs infants of their ability to walk, swallow and even breathe.1 SMA is caused by the lack of a functional survival motor neuron 1 (SMN1) gene, which results in the irreversible loss of motor neurons.1 On average babies with SMA Type 2 are diagnosed between six and 24 months of age; Brady was diagnosed shortly after his first birthday.2
Approximately one in every 11,000 babies is born in the U.S. with SMA.1 SMA progresses quickly, meaning the earliest possible diagnosis and treatment is crucial.
“I remember being in denial when we received his diagnosis,” said Nicole. “He was such a happy baby; how could he have something like this? But his team assured me there were treatment options and that we’d get through it.”
Brady’s care team knew it was critical for him to receive treatment as soon as possible to stop irreversible motor neuron loss. They discussed options and, 19 days after his diagnosis, Brady was treated with Zolgensma® (onasemnogene abeparvovec-xioi), a one-time gene therapy delivered through an intravenous infusion.3 Approved in the U.S. in May 2019, Zolgensma targets the genetic root cause of the disease by replacing the function of the SMN1 gene, halting disease progression.
Before and after the Zolgensma infusion, Brady 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. 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 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.3
Two years later, following Zolgensma treatment and with the help of his occupational therapy team, Brady is reaching milestones his parents never thought were possible. He is often zooming around the house in his walker and riding horses in rodeos. However, while Nicole is thankful for Brady to be where he is, she often wishes she had known about SMA sooner.
One way he could have received an earlier diagnosis is through newborn screening. Millions of babies across the country are routinely screened at birth for conditions that can affect a child’s long-term health or survival. In 2018, SMA was added to the Recommended Uniform Screening Panel (RUSP), a federal list of often devastating disorders that require intervention as early as possible and have treatment options available.4,5 Despite the fact there are now three treatments approved by the U.S. Food and Drug Administration for SMA, not every state screens for this devastating disease.4 The Clarks' home state of Oklahoma didn’t screen newborns for SMA when Brady was born, but local policies have since changed and now every baby in the state is being tested within the first few days of their life.
In states where newborn screening is not yet implemented, understanding the signs of SMA – which can often be subtle, like poor head control, low muscle tone, a weak cry or not able to support weight on their legs – can help ensure a prompt diagnosis and timely access to treatment and supportive care, resulting in improved outcomes.
“I don’t like thinking of the what ifs,” said Nicole. “But what if he was diagnosed at birth? What if we didn’t start him in occupational therapy when we did? Parents shouldn’t have to wonder those things about their baby.”
For more information about SMA and to find out what you can do to ensure that babies in your state are screened for this disease, visit CureSMA.org/ActionCenter.
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 cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA.
- 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, or if the patient misses a dose of the corticosteroid or vomits it up.
What should I watch for before and after infusion with ZOLGENSMA?
- Viral respiratory infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient’s doctor immediately if you see signs of a possible viral respiratory 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 at 833-828-3947.
Please see the Full Prescribing Information.
- Sugarman EA, et al. Eur J Hum Genet. 2012;20(1):27–32.
- Cure SMA. Types of SMA. https://www.curesma.org/types-of-sma/. Accessed October 14, 2021.
- ZOLGENSMA [prescribing information]. Bannockburn, IL: Novartis Gene Therapies, Inc; 2021.
- Cure SMA. Newborn Screening for SMA. https://www.curesma.org/newborn-screening-for-sma/. Accessed October 7, 2021.
- Health Resources & Services Administration. Recommended Uniform Screening Panel. https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html. Accessed October 7, 2021.
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