Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study

2019 ◽  
Vol 6 (1) ◽  
pp. 109-117 ◽  
Author(s):  
Sally Dunaway Young ◽  
Jacqueline Montes ◽  
Samantha S. Kramer ◽  
Bernadette Podwika ◽  
Ashwini K. Rao ◽  
...  
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

2017 ◽  
Vol 20 (6) ◽  
pp. 608-613 ◽  
Author(s):  
Jennifer N Kraszewski ◽  
Denise M Kay ◽  
Colleen F Stevens ◽  
Carrie Koval ◽  
Bianca Haser ◽  
...  
Keyword(s):  
New York ◽  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
New York State ◽  
Population Based ◽  
York State

scholarly journals P.228General movements assessment in infants with spinal muscular atrophy: a pilot study

2019 ◽  
Vol 29 ◽  
pp. S133
Author(s):  
B. Yardımcı Lokmanoğlu ◽  
N. Bulut ◽  
G. Aydın ◽  
G. Sırtbaş ◽  
F. Kabakçı ◽  
...  
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia

2015 ◽  
Vol 05 (03) ◽  
pp. 221-224
Author(s):  
Ramanath Majumdar ◽  
Zahra Rehana ◽  
Saad Al Rajeh ◽  
Wafaa Eyaid ◽  
Mohammed Jumah
Keyword(s):  
Saudi Arabia ◽  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Carrier Screening

scholarly journals Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy

2013 ◽  
Vol 161 (4) ◽  
pp. 679-686 ◽  
Author(s):  
Erin Rothwell ◽  
Rebecca A. Anderson ◽  
Kathryn J. Swoboda ◽  
Louisa Stark ◽  
Jeffrey R. Botkin
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
Public Attitudes

scholarly journals Quantification of disease progression in spinal muscular atrophy with muscle MRI—a pilot study

2021 ◽  
Author(s):  
Louise A.M. Otto ◽  
Martijn Froeling ◽  
Ruben P.A. Eijk ◽  
Fay‐Lynn Asselman ◽  
Renske Wadman ◽  
...  
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Disease Progression ◽  
Muscular Atrophy ◽  
Muscle Mri

scholarly journals Feasibility of combined treatment for type III spinal muscular atrophy: a pilot study

2017 ◽  
Vol Volume 5 ◽  
pp. 167-173
Author(s):  
Nataliia Sych ◽  
Mariya Klunnyk ◽  
Irina Matiyashchuk ◽  
Mariya Demchuk ◽  
Olena Ivankova ◽  
...  
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Combined Treatment ◽  
Type Iii

scholarly journals Pilot Study on Quantitative Cervical Cord and Muscular MRI in Spinal Muscular Atrophy: Promising Biomarkers of Disease Evolution and Treatment?

2021 ◽  
Vol 12 ◽  
Author(s):  
Giovanni Savini ◽  
Carlo Asteggiano ◽  
Matteo Paoletti ◽  
Stefano Parravicini ◽  
Elena Pezzotti ◽  
...  
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Thigh Muscle ◽  
Cervical Cord ◽  
Published Data ◽  
Slight Reduction ◽  
Cross Sectional ◽  
Disease Evolution ◽  
Over Time

Introduction: Nusinersen is a recent promising therapy approved for the treatment of spinal muscular atrophy (SMA), a rare disease characterized by the degeneration of alpha motor neurons (αMN) in the spinal cord (SC) leading to progressive muscle atrophy and dysfunction. Muscle and cervical SC quantitative magnetic resonance imaging (qMRI) has never been used to monitor drug treatment in SMA. The aim of this pilot study is to investigate whether qMRI can provide useful biomarkers for monitoring treatment efficacy in SMA.Methods: Three adult SMA 3a patients under treatment with nusinersen underwent longitudinal clinical and qMRI examinations every 4 months from baseline to 21-month follow-up. The qMRI protocol aimed to quantify thigh muscle fat fraction (FF) and water-T2 (w-T2) and to characterize SC volumes and microstructure. Eleven healthy controls underwent the same SC protocol (single time point). We evaluated clinical and imaging outcomes of SMA patients longitudinally and compared SC data between groups transversally.Results: Patient motor function was stable, with only Patient 2 showing moderate improvements. Average muscle FF was already high at baseline (50%) and progressed over time (57%). w-T2 was also slightly higher than previously published data at baseline and slightly decreased over time. Cross-sectional area of the whole SC, gray matter (GM), and ventral horns (VHs) of Patients 1 and 3 were reduced compared to controls and remained stable over time, while GM and VHs areas of Patient 2 slightly increased. We found altered diffusion and magnetization transfer parameters in SC structures of SMA patients compared to controls, thus suggesting changes in tissue microstructure and myelin content.Conclusion: In this pilot study, we found a progression of FF in thigh muscles of SMA 3a patients during nusinersen therapy and a concurrent slight reduction of w-T2 over time. The SC qMRI analysis confirmed previous imaging and histopathological studies suggesting degeneration of αMN of the VHs, resulting in GM atrophy and demyelination. Our longitudinal data suggest that qMRI could represent a feasible technique for capturing microstructural changes induced by SMA in vivo and a candidate methodology for monitoring the effects of treatment, once replicated on a larger cohort.

Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

2014 ◽  
Vol 24 (2) ◽  
pp. 134-142 ◽  
Author(s):  
J. Kirschner ◽  
D. Schorling ◽  
D. Hauschke ◽  
C. Rensing-Zimmermann ◽  
U. Wein ◽  
...  
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Double Blind

scholarly journals Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study

2020 ◽  
Vol 56 (8) ◽  
pp. 1263-1269
Author(s):  
Ellen Pieper ◽  
Adrienne Sexton ◽  
Monique M Ryan ◽  
Robin Forbes
Keyword(s):  
Pilot Study ◽  
Spinal Muscular Atrophy ◽  
Genetic Risk ◽  
Muscular Atrophy
Sign in / Sign up

Export Citation Format

Share Document