For patients with new diagnoses, our goal is to begin treatment as quickly as possible to ensure the best possible long-term outcomes. We understand that navigating a new diagnosis like SMA can raise many questions. At UK HealthCare, we prioritize open communication and guarantee you have direct lines of contact with your child's care team. This allows you to address concerns promptly and receive ongoing support.
Depending on your child's needs, they may also receive treatment from orthopaedic experts, pulmonologists, physical medicine and rehabilitation physicians, and other specialists. Many infants and children with SMA also benefit from dietary services or occupational, physical or speech therapy to support their development and overall health. We work closely with a variety of specialists, but we refer on a case-by-case basis, as many children who are treated early do not need to see all these specialists regularly.
UK HealthCare offers all approved treatment options for spinal muscular atrophy, including multiple gene therapies that can drastically change the course of the disease and allow children to thrive.
Several new medications for SMA are in development. The UK HealthCare team is equipped to quickly roll out new therapies as they become available, allowing our patients to receive advanced treatments as early as possible.
Gene therapy and medications
When faced with an SMA diagnosis, understanding all potential treatment options becomes a priority for many families. Among these options, gene therapy has emerged as a breakthrough treatment for SMA. We recognize the importance of gene therapy, and we are committed to providing access to this potentially life-changing treatment. As a result, we have established a robust internal process to ensure your child receives gene therapy in a timely and safe manner.
At times, your child may need to obtain labs or visits on short notice, and you will need frequent office visits while your child is being evaluated for gene therapy. Following gene therapy, your child will require frequent office visits to monitor for potential side effects and to ensure their continued well-being.
Gene therapy infusions take place in our specialized pediatric infusion center. Our dedicated staff here are experts in administering this treatment and provide a safe and comfortable environment.
Most patients receive one or two of the treatment options below.
For infants with a new diagnosis
Zolgensma is a type of gene therapy. With this medication, a full copy of a specific gene is delivered to motor neurons to increase levels of the SMN protein. This one-time treatment, given to children younger than 2, is injected into the bloodstream through a flexible tube called a cannula that is placed in the arm or leg. Once administered, Zolgensma stops SMA progression.
A Zolgensma infusion takes about an hour, and parents will need to bring their child back for follow-up appointments and lab work for at least the next three months.
For infants and patients with an established diagnosis
Evrydsi is a daily oral medication that improves SMN protein production in the body. The liquid medication is taken at home by mouth or through a feeding tube and can be used by infants, children and adults with SMA.
In clinical trials, adults and children who took Evrysdi had improved motor function in the first year, and they were able to maintain that improvement through the second year. Clinical trials also showed that infants who took the medication exceeded development expectations when compared with infants who were not treated.
For use most often in patients with an established diagnosis
Spinraza is a type of medication known as an antisense oligonucleotide (ASO) that targets the root cause of SMA. This medication delivers a short sequence of genetic code that binds to specific genes in the body to encourage SMN protein production. Spinraza is injected into the cerebrospinal fluid in the lower part of the spine.
When patients first start on Spinraza, they receive four loading doses — the first three are each 14 days apart, then the last loading dose is 30 days after the third dose. From that point on, patients receive maintenance doses of Spinraza three times a year. The injection is administered at scheduled intervals by the UK HealthCare interventional radiology team, and patients’ function is monitored by the expert therapy team in the NEMO Clinic.
