Milan and Elena’s journey with spinal muscular atrophy (SMA) Type 1 started 9 years ago with their first daughter, Josephine. “We had no idea what SMA was when the doctors diagnosed her,” explained Elena. “We really felt they had made a mistake.” When Milan and Elena were told there was no treatment option for SMA, they were devastated. “The doctors told us to take Josephine home and love her because SMA progresses quickly,” said Milan. “And 15 months later she passed away as we sang her favorite lullaby to her.”
“Two years later I was pregnant again,” said Elena. Within 3 weeks of being born, their second daughter Evelyn was diagnosed with SMA Type 1. At the time of Evelyn’s diagnosis there were no FDA-approved treatments for SMA. “When we had Josephine, we had read about research being done on SMA, but it was just in the early stages,” explained Milan. “We were hoping that in the meantime there had been advancements or a possible treatment.” For all their family had been through, they would finally receive some hopeful news—there was a clinical study using an experimental gene therapy for the treatment of SMA.
Enrolling in the clinical study of ZOLGENSMA® (onasemnogene abeparvovec-xioi)
When Evelyn was diagnosed, there was a clinical study for ZOLGENSMA, an experimental, one-time-only gene therapy, being conducted at Nationwide Children’s Hospital in Columbus, Ohio. “We immediately contacted the people in Columbus who were running the clinical study and told them our story and included pictures of Evelyn,” explained Elena. “They got back to us and Evelyn was enrolled in the study shortly after our call.” At about 2 months old, Evelyn was treated with ZOLGENSMA. “We tried not to hope for too much, but when she started to lift her head, that was the most joyous moment of our lives,” said Elena. Milan was just as excited about the progress Evelyn was making. “When she started scooting across the floor we were blown away! We had never heard of children with SMA Type 1 moving like this,” explained Milan.
Elena, mother of Evelyn who has SMA Type 1
For many people, routine activities aren’t a reason for celebration, but when a family has experience with SMA, those activities take on added significance. “Evelyn picks out her dresses, brushes her teeth, and combs her hair all by herself. It’s amazing to see her doing these things at 3½ years old. Sometimes I feel like she doesn’t need me,” laughed Elena. Weekends are extra special around the house, especially when bacon and music are involved. “Our Saturdays are lots of fun. It usually starts with us making pancakes and bacon followed by a dance party in the family living room,” explained Milan. “Then we’ll head to the park a little later. Evelyn likes to ride her scooter, go on the swings, or just zoom around on her tricycle.”
While ZOLGENSMA targets the genetic root cause of SMA, it is not a cure and can’t reverse damage already caused by SMA before treatment. Even with the progress Evelyn has achieved after treatment, she still has SMA Type 1. “SMA doesn’t disappear with the infusion of ZOLGENSMA,” said Elena. “Evelyn still has SMA and has weakness in her legs. We are working with a physical therapist to help her get a little stronger.”
Milan and Elena feel blessed about what Evelyn has accomplished so far and they are excited about what her future holds. “Parents need to know about this treatment because it has opened the door to Evelyn’s future where it was once closed,” said Elena. “We hope for her to learn, love, and to be proud of who she is.”
Watch Evelyn’s video and hear more about how she’s doing after treatment by visiting ZOLGENSMA.com.
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 the 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 a patient experiences unexpected bleeding or bruising.
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 AveXis at 833-828-3947.
Please see the Full Prescribing Information.
©2019 AveXis, Inc. All rights reserved. US-ZOL-19-0174 08/2019
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ZOLGENSMA® (onasemnogene abeparvovec-xioi) 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 the vein. ZOLGENSMA was not evaluated in patients with advanced SMA.
Important Safety Information
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.
Please see additional Important Safety Information below and accompanying Full Prescribing Information.