When Kevin and Maria Campbell of St. Augustine, Florida, noticed that their 8-month-old son, Eli, was no longer reaching key developmental milestones for his age, like sitting up, they became concerned.
Before Eli was born, the Campbells found out they were both carriers of spinal muscular atrophy (SMA), so they learned as much as they could about the disease. After seeing their son experiencing the symptoms, they decided to get him tested for SMA.
“Getting the test and results took a while because of insurance hurdles,” recalls Kevin. “We didn’t learn until Eli was 14 months old that he had Type 2 SMA.”
While daunted by the diagnosis, the Campbells were determined to do everything they could to help their son manage his SMA. The family was encouraged knowing that recent advances made in treating SMA had brought about new hope for families like theirs.
Kevin and Maria started connecting with other SMA community members through local advocacy groups and online communities. With guidance from the community, they found their way to a specialist at a children’s hospital in Orlando, Florida. The specialist educated them about clinical trials in SMA, including a trial for the FDA-approved Evrysdi® (risdiplam). Evrysdi is approved to treat SMA in adults and children two months of age and older.
Every part of the Campbell’s journey has been influenced by the support and education they received from members of the SMA community, so it’s no surprise that Kevin wants to give back. He stresses how important it is for those living with SMA to connect with others and find the resources they need. He has led by example, stepping up to lead the Cure SMA chapter of Northern Florida, which provides support, education and community to local families and individuals affected by SMA. Kevin and Maria were also instrumental in advocating for the addition of SMA in Florida’s newborn screening panels.
Meanwhile, Kevin and Maria say Eli is a happy little boy and doing well. He continues to take Evrysdi. Being a daily medication that can be taken at home, they’ve made Evrysdi a part of Eli’s everyday routine. He takes the medication around the same time each day after breakfast.
Since starting treatment, Kevin and Maria have noticed improvements in their son’s motor function. “It’s so incredibly rewarding to see your child make progress,” says Kevin. “I’m here to tell our story to help other families affected by SMA get early diagnoses and understand there are treatment options available. Seeking out the information and support you need is so important, and can make an incredible difference to you and your child.”
In one of the clinical trials for Evrysdi, motor function improved in children and adults with Type 2 and Type 3 SMA after taking Evrysdi for 12 months (average 1.36-point increase on the Motor Function Measure [MFM-32] scale compared with an average 0.19-decrease for those not taking Evrysdi).*
*SUNFISH is a two-part study of children and adults with later-onset SMA. This includes 128 people with Type 2 SMA and 52 with Type 3 SMA. Part two includes 180 people and is measuring the safety and effectiveness of Evrysdi at the recommended dose (n=120), compared with those not taking Evrysdi (n=60). The main measurement was the change in motor function, as assessed on Motor Function Measure-32 (MFM-32), after 12 months of treatment, compared with those not taking Evrysdi.
Additionally, Evrysdi treatment was shown to improve upper limb motor function in children and adults compared to baseline, as measured by the Revised Upper Limb Module (RULM)*, a secondary endpoint of the study (1.59 point difference; p=0.0028) between the means in Evrysdi and placebo groups (1.61 points [95% CI: 1.00, 2.22]; 0.02 [95% CI: -0.83, 0.87]), respectively.
*RULM assesses the ability to push, pull, place, tear, open, raise, and lift objects, as well as hand, arm, and reaching movements in children and adults with SMA. It can capture progressive muscle weakness across the spectrum of SMA.
What is Evrysdi?
Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in adults and children 2 months of age and older.
It is not known if Evrysdi is safe and effective in children under 2 months of age.
Important Safety Information
- Before taking Evrysdi, tell your healthcare provider about all of your medical conditions, including if you:
- have liver problems
- are pregnant or plan to become pregnant. If you are pregnant, or are planning to become pregnant, ask your healthcare provider for advice before taking this medicine. Evrysdi may harm your unborn baby.
- are a woman who can become pregnant:
- Before you start your treatment with Evrysdi, your healthcare provider may test you for pregnancy. Because Evrysdi may harm your unborn baby, your healthcare provider will decide if taking Evrysdi is right for you during this time
- 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
- are an adult male planning to have children: Evrysdi may affect a man’s ability to have children (fertility). If this is of concern to you, make sure to ask a healthcare provider for advice
- are breastfeeding or plan to breastfeed. It is not known if Evrysdi passes into breast milk and may harm your baby. If you plan to breastfeed, discuss with your healthcare provider about the best way to feed your baby while on treatment with Evrysdi
- Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Keep a list of them to show your healthcare provider and pharmacist when you get a new medicine
- You should receive Evrysdi from the pharmacy as a liquid that can be given by mouth or through a feeding tube. The liquid solution is prepared by your pharmacist. 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:
- For infantile-onset SMA:
- runny nose, sneezing, sore throat, and cough (upper respiratory infection)
- lung infection
- For later-onset SMA:
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.
SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.