Results 61 to 70 of about 42,113 (251)

Being ambulatory does not secure respiratory functions of Duchenne patients

Annals of Indian Academy of Neurology, 2011
Aim: The aim of this work was to assess the respiratory functions of ambulatory Duchenne patients and to propose an earlier time period for intervention. Materials and Methods: Lung functions and North Star Ambulatory Assessment (NSAA) scores of Duchenne
Baris Ekici, Yakup Ergül, Burak Tatli, Feride Bilir, Fatih Binboga, Ayse Süleyman, Zeynep Tamay, Mine Çaliskan, Nermin Güler   +8 more
doaj   +1 more source

Illuminating Satellite Cells: Light Sheet Fluorescence Microscopy for 3D Imaging of Murine Skeletal Muscles Damaged by Ex Vivo Forced Eccentric Contraction

Microscopy Research and Technique, EarlyView.
This study presents the light sheet fluorescence microscopy (LSFM) as a tool for 3D‐imaging of whole skeletal muscle to reveal satellite cells (SCs), the muscle stem cells that activate following damage to repair injured tissue. After tissue clearing and whole‐mount staining process aimed to enable optical access and specific cell labeling (1), murine ...
Rachele Garella, Elisa Imbimbo, Francesco Palmieri, Alessia Tani, Martina Parigi, Flaminia Chellini, Alessandra La Contana, Monica Mattioli Belmonte, Aurora Longhin, Ludovico Silvestri, Chiara Sassoli, Roberta Squecco   +11 more
wiley   +1 more source

Switching Enzyme Replacement Therapy for Late‐Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL

Muscle &Nerve, EarlyView.
A total of 95 ERT‐experienced adults with LOPD were randomized to switch to cipaglucosidase alfa + miglustat or remain on alglucosidase alfa treatment. After 52 weeks, patients remaining on alglucosidase alfa showed worsening or stability for most outcomes, whereas patients who switched to cipaglucosidase alfa + miglustat generally showed stability or ...
Hani Kushlaf, Jordi Díaz‐Manera, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Paula R. Clemens, Mazen M. Dimachkie, Priya S. Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, Antonio Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell Goldman, Tahseen Mozaffar, on behalf of the PROPEL Study Group   +17 more
wiley   +1 more source

A Phase 1, Double‐Blind, Placebo‐Controlled Trial of Sevasemten (EDG‐5506), a Selective Modulator of Fast Skeletal Muscle Contraction, in Healthy Volunteers and Adults With Becker Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Sevasemten (EDG‐5506) is an orally administered, investigational small molecule that selectively modulates fast muscle fiber contraction by inhibiting fast myosin ATPase. This study assessed the safety, tolerability, and pharmacokinetics (PK)/pharmacodynamics (PD) of sevasemten in healthy adult volunteers (HVs) and adults ...
Joanne Donovan, Jeffrey A. Silverman, Ben Barthel, Michael DuVall, Molly Madden, James MacDougall, Nicole Rempel Kilburn, Abby Bronson, Marc Evanchik, Gilad Gordon, Kevin Koch, Alan J Russell   +11 more
wiley   +1 more source

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with selected MDs using population‐based surveillance data collected by the Muscular Dystrophy Surveillance, Tracking,
Jonathan Suhl, Kristin M. Conway, Shiny Thomas, Sonja A. Rasmussen, James F. Howard, Nicholas E. Johnson, Paul A. Romitti, Katherine D. Mathews, The Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)   +9 more
wiley   +1 more source

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

Quantitative Muscle Ultrasound: A Non‐Invasive Biomarker for Monitoring Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Quantitative muscle ultrasound (QMUS) shows promise as a non‐invasive biomarker for monitoring functional status in Duchenne muscular dystrophy (DMD). We evaluated the correlation between QMUS in various muscles and functional capacity assessments.
Yu Jin Im, Yumi Choe, Jiwon Lee, Jeehun Lee, Jong Geol Do, Jeong‐Yi Kwon   +5 more
wiley   +1 more source

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry

BMC Neurology, 2019
Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US males ...
Leslie Cowen, Maria Mancini, Ann Martin, Ann Lucas, Joanne M. Donovan   +4 more
doaj   +1 more source

A model‐informed clinical trial simulation tool with a graphical user interface for Duchenne muscular dystrophy

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Abstract Quantitative model‐based clinical trial simulation tools play a critical role in informing study designs through simulation before actual execution. These tools help drug developers explore various trial scenarios in silico to select a clinical trial design to detect therapeutic effects more efficiently, therefore reducing time, expense, and ...
Jongjin Kim, Juan Francisco Morales, Sanghoon Kang, Marian Klose, Rebecca J. Willcocks, Michael J. Daniels, Ramona Belfiore‐Oshan, Glenn A. Walter, William D. Rooney, Krista Vandenborne, Sarah Kim   +10 more
wiley   +1 more source

A computational tool to optimize clinical trial parameter selection in Duchenne muscular dystrophy: A practical guide and case studies

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Abstract Duchenne muscular dystrophy (DMD), a rare pediatric disease, presents numerous challenges when designing clinical trials, mainly due to the scarcity of available trial participants and the heterogeneity of disease progression. A quantitative clinical trial simulator (CTS) has been developed based on previously published five disease ...
Jordan Wilk, Varun Aggarwal, Mike Pauley, Diane Corey, Daniela J. Conrado, Karthik Lingineni, Juan Francisco Morales, Deok Yong Yoon, Yi Zhang, Zihan Cui, Jackson Burton, Jane Larkindale, Shu Chin Ma, Collin Hovinga, Terina Martinez, Klaus Romero, Ramona Belfiore‐Oshan, Sarah Kim, the Duchenne Regulatory Science Consortium (D‐RSC) and the CINRG DNHS investigators   +18 more
wiley   +1 more source