SPINAL MUSCULAR ATROPHY: CLINICAL CHARACTERIZATION AND EVOLUTION AFTER
TREATMENT WITH NEW MODIFYING THERAPIES
Abstract
Objectives: Conducting a retrospective analysis of the clinical
characteristics and evolution of patients with spinal muscular atrophy
(SMA) type 1 and 2 which were treated with the new modifying therapies.
Methods: A descriptive, cross-sectional and retrospective study was
conducted with a target population of patients with a genetic diagnosis
of SMA treated with nusinersen or onasemnogene abeparvovec-xioi (OAX)
who were monitored by the external consultation services of pediatric
pulmonology in a tertiary hospital. The data were collected from their
electronic clinical records. Results: The study describes 6 patients
with ages from 14 months to 11 years, 4 of whom had a diagnosis of SMA
type 1 and 2 with a diagnosis of SMA type 2. With regard to their
treatment, 3 patients received nusinersen, 2 patients received OAX, and
1 patient received OAX followed by nusinersen. The number of emergency
consultations due to respiratory infections per year of treatment was
0.3/year for patients treated with OAX and 0.75/year for patients
treated exclusively with nusinersen. None of the patients treated with
OAX have required hospitalization for a respiratory infection to date.
With regard to respiratory support, two patients had a tracheostomy, and
the rest received nocturnal noninvasive mechanical ventilation as a
preventive measure. Two of the patients had undergone gastrostomy. The
patients treated with OAX have shown an improvement in their motor
functions according to the CHOP INTEND score. Conclusions: The
description of different real-life cohorts will make it possible to
homogenize the management of these patients and provide realistic
expectations regarding the evolution of their condition.