Articles and Updates from Phoenix Children's
August has been designated as Spinal Muscular Atrophy (SMA) Awareness Month. This awareness 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 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
SMA is a rare degenerative disorder of motor neurons occurring in 1 out of 10,000 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 400 doses were administered by lumbar puncture, including patients with scoliosis and/or surgery, by Phoenix Children’s interventional radiologists. The Barrow 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 11 patients at Barrow Neurological Institute at Phoenix Children’s (2 patients received it even before development of symptoms).
- Daily oral therapy with Risdiplam has been initiated shortly after approval in August 2020 in more than 25 patients.
Cure SMA (formerly Families of SMA) has developed a national network of treatment centers to establish standards of care, a registry to track outcomes, 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, have been active or are being planned to include Phase 2 and Phase 3 clinical trials at Barrow Neurological Institute at Phoenix Children’s Hospital. 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.
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
Not one to rest on our laurels, we are continuing to improve patient care and coordination of services, with the initiation of a SMA multidisciplinary clinic, planned for Fall 2021. The new clinic will allow SMA patients to schedule visits with a pulmonologist, a rehabilitation therapist, and a neurologist on the same day.
Arizona adopts newborn screening
Arizona has also recently adopted the federal recommendation for newborn SMA screening for all births in our state, but a has not yet announced a go-live date. However, when instituted, direct notification of positive results will come to Phoenix Children’s which will lead to treatment, in most cases, before symptoms. To that end, education programs have been reviewed by Phoenix Children medical staff, nursing and families and will be widely disseminated.
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 daily 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.