Leading the way in treatment of Spinal Muscular Atrophy

August has been designated as Spinal Muscular Atrophy (SMA) Awareness Month. This awareness every year provides a unique opportunity to update knowledge, educate and give thanks:

Knowledge of the profound changes which have occurred at Barrow Neurological Institute at Phoenix Children’s Neuromuscular Program in the diagnosis, treatment and expanded care of this neuromuscular disorder.

Educate the public, friends, families and children living with this disease in Arizona.

Thanks to the multiple organizations, pediatric subspecialists, therapists, research associates, individuals and families who have provided program support, participated in research and helped Arizona adopt SMA newborn screening.

Leading the way in SMA treatment - a lot has changed in 4 years

SMA is a rare degenerative disorder of motor neurons occurring in 1 out of 15,000 births with variable presentations in childhood. Since December 2016, the FDA has approved three disease modifying therapies that can change clinical outcomes and even result in normal motor development with early treatment. All patients at Barrow Neurological Institute at Phoenix Children’s have been treated with disease modifying therapies:

• With the approval of Spinraza in 2016, more than 750 doses were administered by lumbar puncture including patients with scoliosis and/or surgery, by Phoenix Children’s interventional radiologists. The Barrow Neurological Institute at Phoenix Children’s team educated the nation in safe administration with novel outpatient procedures.
• Single dose gene therapy, Zolgensma, approved in May 2019, has been administered to 23 patients at Barrow Neurological Institute at Phoenix Children’s with most patients now receiving therapy before exhibiting symptoms.
• Daily oral therapy with Risdiplam has been initiated shortly after approval in August 2020. Now over 45 patients receive this as part of their treatment with many initiating treatment within days of birth.

Cure SMA (formerly Families of SMA) has developed a national network of treatment centers to establish standards of care, a registry to track outcomes from 2018-2024, and has developed programs to prepare institutions for clinical SMA research. Because of our treatment efforts, Phoenix Children’s has been designated a Cure SMA regional site.

Our patients are participating in real world data acquisition to benefit all patients. As a result of this designation, in-state and regional referrals to the Barrow Neurological Institute at Phoenix Children’s Neuromuscular Program are increasing.

Clinical trials, registries and education

Other emerging therapies, including add-on therapies to the three approved treatments above. We have completed Phase 2 and Phase 3 clinical trials at Barrow Neurological Institute at Phoenix Children’s for this new class of treatment with FDA review leading to possible approval late 2025.

Multiple presentations of long-term orthopedic manifestations in his new age of treatment have occurred on a local and national basis in collaboration with the orthopedic division at Phoenix Children's.

Registries provided through Cure SMA and the pharmaceutical industry are ongoing and are providing unique data to understand the natural history and outcomes from these combined treatments. National presentations have included tracking of infant treated from 0-2 months of age and long-term treatment until late childhood and early adulthood.

July 2025 will see Phoenix Children's have a national established pediatric neuromuscular fellowship program with the first fellow to begin a year of subspecialty training.

Our experience at Barrow Neurological Institute at Phoenix Children’s is being shared through educational presentations to local, national and even international audiences. Plus, data acquired through these therapy methods is being used to educate, train and provide suggestions for ongoing treatments. Many parents are actively involved in program development, education and reviewing standard of care in our outpatient and inpatient services.

Multidisciplinary care for the SMA patients coming to Phoenix Children’s - 4 years later

Not one to rest on our laurels, we continued to improve patient care and coordination of services.

The neuromuscular program, including spinal muscular atrophy, has a full-time clinical coordinator. A new Board-certified neuromuscular physician has expanded the ability to see patients in a timely manner. Increasing number of physical therapists have also been certified in validated clinical trial motor outcome scores to help provide standard of care and long-term follow-up.

In 2022, the SMA the multidisciplinary clinic was established. The new clinic allows SMA patients to schedule visits with a pulmonologist, neuromuscular physician, pediatric orthopedic, a rehabilitation therapist, nutritionist, and social service support in his single clinic visit.

Arizona adopts newborn screening

Arizona in January 2022 adopted the federal recommendation for newborn SMA screening for all births in our state. A standardized process for notification of our neuromuscular team, neuromuscular evaluation the following day and rapid initiation of therapy has been established.

This process has been resulted in treatment sometimes as early as in the newborn nursery.

Thanks to our families

Although awareness of this health observance will certainly call attention to this disorder, our families and patients are aware and impacted daily. We owe a great deal of thanks to our patients and their families to allow us to participate in their care. The heightened awareness of SMA this August and beyond will continue to result in earlier diagnoses, new therapies and improved outcomes for all patients treated with spinal muscular atrophy at Barrow Neurological Institute at Phoenix Children’s.