Results 81 to 90 of about 275,647 (194)

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.

Lancet Neurology
BACKGROUND Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. No approved disease-modifying treatments are available for this disorder.
R. Tawil, Kathryn Wagner, J. Hamel, Doris G. Leung, J. Statland, Leo H. Wang, A. Genge, S. Sacconi, H. Lochmüller, D. Reyes-Leiva, J. Díaz-Manera, J. Alonso-Pérez, N. Muelas, Juan J. Vílchez, A. Pestronk, S. Gibson, Namita A. Goyal, Lawrence Hayward, Nicholas Johnson, S. Lorusso, M. Freimer, Perry B. Shieh, S. Subramony, B. V. van Engelen, J. Kools, O. Leinhard, Per Widholm, Christopher Morabito, Christopher Moxham, D. Cadavid, M. Mellion, A. Odueyungbo, W. Tracewell, Anthony Accorsi, L. Ronco, R. Gould, J. Shoskes, L. A. Rojas, John Jiang   +38 more
semanticscholar   +1 more source

Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy [PDF]

, 2015
Background: We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and ...
Papavasileiou, Evangelia, Lobo, Ann-Marie, Evangelia Papavasileiou, Ann-Marie Lobo   +3 more
core   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double‐blind placebo‐controlled crossover trial

Pharmacotherapy
Facioscapulohumeral muscular dystrophy (FSHD) is a rare, progressive muscle disease with no available disease‐modifying therapy. Creatine monohydrate (CrM) has been shown to improve muscle strength in individuals with muscular dystrophies but has not ...
Ian R. Woodcock, K. de Valle, Anita Cairns, Z. Davidson, Michael Kean, Nisha Varma, A. Grobler, D. Metz, K. Carroll, N. Dilek, C. Heatwole, Monique M. Ryan, M. Delatycki, E. Yiu   +13 more
semanticscholar   +1 more source

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy

BMC Musculoskeletal Disorders, 2021
Background Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. For MRI to be a useful biomarker in an FSHD clinical trial, it should reliably detect changes over relatively short time-intervals ...
Leo H. Wang, D. Shaw, A. Faino, C. Budech, Leann M. Lewis, J. Statland, K. Eichinger, S. Tapscott, R. Tawil, S. Friedman   +9 more
semanticscholar   +1 more source

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]

, 2016
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Pane, M, Ricotti, V, Manzur, AY, on behalf of UK NorthStar Clinical Network, ., Muntoni, F, Ridout, DA, Mercuri, E, Mayhew, A   +8 more
core  

Whole Body Phase Angle as a Promising Marker of Disease Severity in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole‐body phase angle (PhA) and clinically assessed severity in FSHD patients.
Oscar Crisafulli, Renato Baptista, Andi Nuredini, Matteo Fortunati, Luca Grattarola, Rossella Tupler, Anna Odone, Giuseppe D'Antona   +7 more
wiley   +1 more source

Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy

Journal of Neurology, 2022
To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD). Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years.
S. Teeselink, S. Vincenten, N. Voermans, J. Groothuis, J. Doorduin, P. Wijkstra, Corinne G. C. Horlings, B. V. van Engelen, K. Mul   +8 more
semanticscholar   +1 more source

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD

Molecular Therapy: Methods & Clinical Development, 2018
RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy.
Lindsay M. Wallace, Nizar Y. Saad, Nettie K. Pyne, Allison M. Fowler, Jocelyn O. Eidahl, Jacqueline S. Domire, Danielle A. Griffin, Adam C. Herman, Zarife Sahenk, Louise R. Rodino-Klapac, Scott Q. Harper   +10 more
doaj   +1 more source

A Comment on “Muscle Xenografts Reproduce Key Molecular Features of Facioscapulohumeral Muscular Dystrophy”: What Is New and What Has Already been Done and Reported but Was Not Quoted?

Cell Transplantation, 2020
A study was recently published that sought to develop an in vivo model of facioscapulohumeral muscular dystrophy by transplanting muscle precursor cells from a patient into immunodeficient mice.
Daniel Skuk, Jacques P Tremblay
doaj   +1 more source