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Aspen is a spunky four-year-old in Peachtree City, Georgia. She loves doing art projects, playing with Barbies, and riding around the block with her big sister Aniston at the wheel of their go-kart. She’s also living with Type 1 SMA. Each year, 11 babies in Georgia are born with SMA, adding to the nearly 400 people in the state who are living with the disorder. In 2020, two years after Aspen was born, Georgia would start screening all newborns for SMA.1 Research shows that the best outcomes occur when treatment is started as early as possible, ideally before symptoms appear.2 Aspen was diagnosed with SMA when she was four months old and received her first treatment within days. By then, she had hypotonia — unusually low muscle tone — and no reflexes. “Babies can’t wait,” says her mother Tabitha, age 38. Around the same time, Aspen also started occupational therapy and physical therapy, including a robotic TENS machine that stimulates and works her muscles, with the goal of achieving her highest possible level of physical functioning. Making Moves In the fall of 2020, Aspen started taking Evrysdi® (risdiplam), the first and only at-home medication to help manage the progression of SMA. Evrysdi is a prescription medicine used to treat SMA in children and adults. Before taking Evrysdi, tell your doctor if you are pregnant or plan to become pregnant, or are breastfeeding or plan to breastfeed. Evrysdi may harm an unborn or breastfed baby. Evrysdi may affect a man’s ability to have children (fertility). Tell your doctor about all the medicines you take. These are not all the possible side effects of Evrysdi. Please refer to additional important safety information below. After starting Evrysdi, Aspen began bearing more weight.* She was standing up by holding onto the edge of the couch for support, and Tabitha recalls thinking, “there’s no reason she can’t walk.” So, she and her husband Keith, a pilot, retrofitted their house with handrails and strategically placed tables, chairs, a toy box, a play kitchen — anything that wasn’t nailed down. “We wanted to give her those opportunities, otherwise she won’t get stronger,” Tabitha says. With the encouragement of her parents and the watchful eye of her medical team, Aspen did get stronger.* *In one of the pivotal clinical trials for Evrysdi (FIREFISH), 33% of infants with Type 1 SMA who received the recommended dose of Evrysdi for one year, starting at the age of 2 to 7 months, were able to sit without support for at least 5 seconds (N=58), as measured by the Bayley Scales of Infant and Toddler Development - Third Edition. Eighty-seven percent were alive and able to breathe without permanent ventilation (N=62), defined as requiring a tracheostomy or intubation for more than 21 consecutive days outside of an acute, reversible event. After two years of treatment, 60% were able to sit without support for at least 5 seconds (N=58), and 84% were alive and free from permanent ventilation (N=62). Without treatment, infants are not expected to achieve these milestones in the natural history of the disease. An open-label safety study for Evrysdi (JEWELFISH) involved people with Type 1, 2 or 3 SMA aged 6 months to 60 years who had been previously treated with other approved or investigational SMA-targeting therapies (N=174). Initial safety findings from people who previously took other approved or investigational SMA medications have been consistent with the safety findings from studies in adults, children and infants who took only Evrysdi. Observed through exploratory efficacy endpoints, the study showed participants aged 2 to 60 years had the following changes in their motor function after taking Evrysdi for two years: -0.17 change from baseline Motor Function Measure 32 score with Evrysdi (N=137), 0.71 change from baseline Revised Upper Limb Module score (N=133) and -0.11 change from baseline Hammersmith Functional Motor Scale Expanded score (N=132). All infants under age 2 (N=3) were able to sit without support for at least 5 seconds after 2 years of Evrysdi. Due to the exploratory nature of the findings, these efficacy observations are not confirmatory. School Days Tabitha felt like “mainstream” education was the right choice for Aspen, who has always been bright and sociable, but she worried a little whether they would be able to provide adequate support. Aspen goes to a preschool program at the same school where her sister Aniston, age 11, attends fifth grade. The two sisters are best friends, and it’s reassuring to Tabitha to have them under the same roof during the day. “Preschool was a little scary at first because we didn’t know what we were getting into,” Tabitha says. “I don’t think they knew what they were getting into either.” The school implemented an Individualized Education Plan (IEP) for Aspen. The nurse learned to use her g-tube and feeding machine. The staff enacted precautions to prevent her from falling, making sure she has access to her wheelchair. With time, Tabitha hopes her daughter will need less and less help. In her mind’s eye, Tabitha envisions Aspen riding the school bus that her sister and their friends take each morning, rather than riding the special needs bus, though for now that goal remains out of reach. Still, Tabitha is optimistic and refuses to accept the notion that Aspen’s fate is predetermined. “There are no two kids with SMA that act the same, that look the same, that progress the same,” Tabitha says. “With the treatments available today, I have hope and faith for the future.” What is Evrysdi? Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in children and adults. Important Safety Information Before taking Evrysdi, tell your healthcare provider about all of your medical conditions, including if you: are pregnant or plan to become pregnant, as Evrysdi may harm your unborn baby. Ask your healthcare provider for advice before taking this medicine. are a woman who can become pregnant: Before you start your treatment with Evrysdi, your healthcare provider may test you for pregnancy. Talk to your healthcare provider about birth control methods that may be right for you. Use birth control while on treatment and for at least 1 month after stopping Evrysdi. Pregnancy Registry. There is a pregnancy registry for women who take EVRYSDI during pregnancy. The purpose of this registry is to collect information about the health of the pregnant woman and her baby. If you are pregnant or become pregnant while receiving EVRYSDI, tell your healthcare provider right away. Talk to your healthcare provider about registering with the EVRYSDI pregnancy Registry. Your healthcare provider can enroll you in this registry or you can enroll by calling 1-833-760-1098 or visiting https://www.evrysdipregnancyregistry.com. are an adult male. Evrysdi may affect a man's ability to have children (fertility). Ask a healthcare provider for advice before taking this medicine. are breastfeeding or plan to breastfeed. It is not known if Evrysdi passes into breast milk and may harm your baby. Tell your healthcare provider about all the medicines you take You should receive Evrysdi from the pharmacy as a liquid. If the medicine in the bottle is a powder, do not use it. Contact your pharmacist for a replacement. Avoid getting Evrysdi on your skin or in your eyes. If Evrysdi gets on your skin, wash the area with soap and water. If Evrysdi gets in your eyes, rinse your eyes with water. The most common side effects of Evrysdi include: For later-onset SMA: fever. diarrhea. rash. For infantile-onset SMA: fever. diarrhea. rash. runny nose, sneezing and sore throat (upper respiratory infection) lung infection (lower respiratory infection) constipation. vomiting. cough. These are not all of the possible side effects of Evrysdi. For more information on the risk and benefits profile of Evrysdi, ask your healthcare provider or pharmacist. You may report side effects to the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Genentech at 1-888-835-2555. Please see full Prescribing Information for additional Important Safety Information. Cure SMA. SMA state fact sheet: Georgia. Accessed May 2, 2023. Available at: https://www.curesma.org/wp-content/uploads/2021/06/SMA-State-Fact-Sheet_June2021_GA_v2.pdf Jędrzejowska M. Advances in newborn screening and presymptomatic diagnosis of spinal muscular atrophy. Degener Neurol Neuromuscul Dis. 2020;10:39-47. doi:10.2147/DNND.S246907

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