Results 191 to 200 of about 225,144 (339)

Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile‐onset Pompe disease

open access: yesCPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Abstract Infantile‐onset Pompe disease (IOPD) is a rare, deadly, quickly‐progressing degenerative disease. Even with life‐sustaining treatment (e.g., alglucosidase alfa [ALGLU]), many patients experience continued motor impairment. The Mini‐COMET trial evaluated avalglucosidase alfa (AVAL) versus ALGLU on motor and other outcomes in IOPD.
Fatiha Rachedi   +6 more
wiley   +1 more source

Integrated Modeling of Digital‐Motor and Clinician‐Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases

open access: yesCPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Robust and highly sensitive outcomes are crucial for small trials in rare diseases. Combining different outcome types might improve sensitivity to identify disease severity and progression, yet innovative methodologies are scarce. Here we develop an Item Response Theory framework that allows integrated modeling of both continuous and ...
Alzahra Hamdan   +16 more
wiley   +1 more source

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Silvestre Cuinat   +6 more
wiley   +1 more source

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