Nusinersen for Type 1 Spinal Muscular Atrophy: A Father's Perspective.

Abstract

* Abbreviations: HINE-2 — : Hammersmith Infant Neurologic Examination, section 2 — SMA — : spinal muscular atrophy We thought our younger son was healthy at birth, and we had high hopes for his future. His weak movements and excessive fussiness raised our concerns, leading to an unsuspected, devastating diagnosis of type 1 spinal muscular atrophy (SMA). The US Food and Drug Administration had recently approved nusinersen, the first disease-modifying treatment for SMA, but its supporting evidence and steep list price made the drug controversial. We made the decision to treat him, despite limited available information. My roles of father and physician soon became inextricably linked; pulse oximetry alarms needed attention at home like in the emergency department, and sometimes the commute from work to our son’s bedside involved only a brief elevator ride to the PICU. This experience offered an unexpected perspective on the benefits and costs of nusinersen therapy for type 1 SMA. Consider the patient impact of 1 end point of the ENDEAR trial1 (identifier NCT02193074 at www.clinicaltrials.gov): motor-milestone response, assessed by using the Hammersmith Infant Neurologic Examination, section 2 (HINE-2). The HINE-2 quantifies infant motor development by assigning scores to various abilities,2 including head control, rolling, and sitting. The use of this end point was motivated by the natural history of type 1 SMA; children rarely gain new motor milestones after symptom onset, and loss of previously achieved milestones is expected instead.3 The value of motor-milestone response may not be self-evident, but for our son, what seem like minor changes in the HINE-2 led to major improvements in function. Our son fit the population enrolled in the ENDEAR trial, … Address correspondence to Nathan R. Hoot, MD, PhD, Department of Emergency Medicine, McGovern Medical School at the University of Texas Health Science Center at Houston, 6431 Fannin St, 4th Floor JJL, Houston, TX 77030. E-mail: nathan.r.hoot{at}uth.tmc.edu