Publications by authors named "J M Shefner"
Article Synopsis
- There is an increasing awareness of the early stages of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leading to new efforts aimed at prevention, largely driven by the participation of individuals at genetic risk. !* -
- A recent workshop outlined recommendations for clinical care and lifestyle management tailored to those at elevated risk for ALS and FTD, covering aspects such as genetic testing, early symptom monitoring, and FDA-approved treatments. !* -
- The guidance document seeks to inform both patients and healthcare providers about best practices and highlights the need for further research to strengthen evidence for future recommendations. !*
Plasma neurofilament analysis in VITALITY-ALS.
Amyotroph Lateral Scler Frontotemporal Degener
February 2025
Objective: To evaluate correlations between neurofilament (Nf) concentrations and clinical characteristics and disease progression using a large longitudinal dataset from VITALITY-ALS (ClinicalTrials.gov identifier: NCT02496767), a 48-week, randomized, double-blind, placebo-controlled clinical trial of in people with ALS (pALS).
Methods: Plasma was collected at baseline and every 8 weeks thereafter.
Article Synopsis
- - Recent advancements in ALS therapies have created optimism for future breakthroughs, yet significant scientific challenges remain, highlighting the need for innovative research approaches.
- - The NIH has formed the Access for ALL in ALS (ALL ALS) consortium to enhance ALS clinical research in the U.S. by organizing and centralizing data collection from diverse ALS populations.
- - ALL ALS focuses on community engagement and inclusion, aiming to provide a robust dataset that combines clinical and genomic information to support researchers in addressing critical questions about ALS.
Automated speech analytics in ALS: higher sensitivity of digital articulatory precision over the ALSFRS-R.
Amyotroph Lateral Scler Frontotemporal Degener
November 2024
: Although studies have shown that digital measures of speech detected ALS speech impairment and correlated with the ALSFRS-R speech item, no study has yet compared their performance in detecting speech changes. In this study, we compared the performances of the ALSFRS-R speech item and an algorithmic speech measure in detecting clinically important changes in speech. Importantly, the study was part of a FDA submission which received the breakthrough device designation for monitoring ALS; we provide this paper as a roadmap for validating other speech measures for monitoring disease progression.
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