Newborn screening for spinal muscular atrophy in New York state: clinical outcomes from the first 3 years

BH Lee, S Deng, CA Chiriboga, DM Kay… - Neurology, 2022 - AAN Enterprises
Background and Objectives Spinal muscular atrophy (SMA) was added to the
Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability …

Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes

K Elkins, A Wittenauer, AF Hagar… - American Journal of …, 2022 - Wiley Online Library
The purpose of this study is to provide the results of the newborn screening (NBS) program
for Spinal Muscular Atrophy (SMA) in the state of Georgia to determine disease incidence …

Newborn screening for spinal muscular atrophy: Ontario testing and follow-up recommendations

HJ McMillan, KD Kernohan, E Yeh… - Canadian Journal of …, 2021 - cambridge.org
Background: Spinal muscular atrophy (SMA) is characterized by the progressive loss of
motor neurons causing muscle atrophy and weakness. Nusinersen, the first effective SMA …

A voluntary statewide newborn screening pilot for spinal muscular atrophy: results from early check

KS Kucera, JL Taylor, VR Robles, K Clinard… - International Journal of …, 2021 - mdpi.com
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North
Carolina, USA, we offered voluntary screening through the Early Check (EC) research study …

Clinical effectiveness of newborn screening for spinal muscular atrophy: a nonrandomized controlled trial

O Schwartz, K Vill, M Pfaffenlehner, M Behrens… - JAMA …, 2024 - jamanetwork.com
Importance There is increasing evidence that early diagnosis and treatment are key for
outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs …

[HTML][HTML] Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

DM Kay, CF Stevens, A Parker, CA Saavedra-Matiz… - Genetics in …, 2020 - Elsevier
Purpose Spinal muscular atrophy (SMA) was added to the Recommended Uniform
Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA …

Massachusetts' findings from statewide newborn screening for spinal muscular atrophy

JE Hale, BT Darras, KJ Swoboda, E Estrella… - International Journal of …, 2021 - mdpi.com
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA)
following the availability of new treatment options. The New England Newborn Screening …

Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study

DS Kariyawasam, AM D'Silva, H Sampaio… - The Lancet Child & …, 2023 - thelancet.com
Background In light of a new therapeutic era for spinal muscular atrophy (SMA), newborn
screening has been proposed as a gateway to facilitate expedient diagnosis and access to …

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

F Niri, J Nicholls, K Baptista Wyatt, C Walker… - International Journal of …, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic
pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early …

Natural history of infantile‐onset spinal muscular atrophy

SJ Kolb, CS Coffey, JW Yankey… - Annals of …, 2017 - Wiley Online Library
Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …