IntOne year experience with Spinraza in Spinal Muscular Atrophy SP24 Emily Hazen OMS-IV , Marcie Baldwin, MS, CPNP, Angela Pomykal, MSPT, Warren Marks, MD, Stephanie Acord, MD Muscular Dystrophy Association Care Center, Cook Children’s Medical Center, Fort Worth, Texas

Background Results

Spinal Muscular Atrophy (SMA) is an autosomal recessive AGE AT START OF SPINRAZA TYPE OF SMA SIDE EFFECTS Total number of injections = 119 Resp viral disease that results in motor neuron degeneration in the 4 4 Inability to illness, 2, 8% Dysphagia, 3, 13% 4 access space, 2, spinal cord and subsequent weakness and hypotonia. It is 14 8% Resp Faiure , 2, 3 3 3 12 Migraine, 1, 4% 9% caused by a deletion on the SMN1 gene. Phenotype 3 10 LP headache, 2, Fracture, 2, 9% severity generally correlates with the number of copies of 8% patients 2 2 2 8

of 2 SMN2 gene. Spinraza (Nusinersen), an antisense Rotavirus, 1, 4% 6 1 1 1 1 1

oligonucleotide, is the first and only FDA approved Number 1 Numberofpatients 4 Constipation, 2, treatment. It acts by increasing the production of SMN2 8% 0 0 0 0 0 0 0 0 2 0 protein, which functions very similarly to SMN1 protein. Data <1 1 - 3 4 - 6 7 - 10 11 - 13 14 -16 17 - 19 0 Age Type 1 Type 2 Type 3 Pneumonia , 7, on clinical outcomes and side effects have been limited to a 29% Non ventilated Ventilator dependent** SMA 1 SMA 2 SMA 3 small number of study participants. Available data on • 9 patients had prior spinal instrumentation. • Motor milestones improved in 12 patients and • ** 3 patients tolerated significant patients treated with Spinraza for SMA Type 1 over the age • General anesthetic was used for 64 procedures. remained stable in 13. of 3 is minimal. ventilator setting weans • No clinically significant laboratory abnormalities. • No patient lost functional motor skills • ** 2 patients maintained settings • Patients below age 7 years (n=9) had primarily • 3 patients had a 1-2 point decrease in the • ** Only 1 patient required ICU respiratory (7/9) and swallow dysfunction (3/9). Methods Hammersmith score but no functional loss care after 2nd dose • Older patients had procedure related • A majority of patients experienced a subjective complications (n=5). (personal or parental account) increase in daily • IRB approved retrospective chart analysis • A single patient twice developed post LP function • All patients (n=28) receiving Spinraza in 2017 at a single headaches requiring brief hospitalization. tertiary center • Subjects stratified by age and SMA classification. Conclusions & Discussion • Laboratory levels were obtained per medication package instructions. • Spinraza is safe and effective in SMA Types 1, 2 and 3 • The lack of laboratory abnormalities suggests that the • Motor outcome was assessed using the Hammersmith even when started in young adulthood. frequency of laboratory testing may be decreased. and CHOP INTEND motor scoring systems. • Respiratory and swallowing difficulties were higher in • The improvement or stability of motor control and subjective younger patients and those with Type 1 SMA. increased functionality in most patients indicates Spinraza is References • Procedure related complications were seen in older an effective medication. patients and those with previously instrumented spines. • The maintained or reduced level of ventilatory support in • This demonstrates the need for exploration of ENDEAR trial several patients suggests Spinraza improves muscular control alternative delivery systems such as implanted of breathing. reservoirs. www.cookchildrens.org/neuro