A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial [0.03%]
关于杜氏肌营养不良儿童患者的研究PolarisDMD：在儿科患者中使用艾萨洛奈德治疗的全球三期随机双盲安慰剂对照研究结果
Richard S Finkel,Craig M McDonald,H Lee Sweeney et al.
Richard S Finkel et al.
Background: Edasalonexent (CAT-1004) is an orally-administered novel small molecule drug designed to inhibit NF-κB and potentially reduce inflammation and fibrosis to improve muscle function and thereby slow disease prog...
Clinical Trial
Journal of neuromuscular diseases. 2021;8(5):769-784. DOI:10.3233/JND-210689 2021
Lotte Heutinck,Saskia L S Houwen-van Opstal,Yvonne D Krom et al.
Lotte Heutinck et al.
Background and objective: To optimize care for patients with DMD, it is essential to know to what extent current care complies with the recommended monitoring frequencies suggested by the DMD care considerations. The obje...
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease [0.03%]
新型标记集协议在成人晚发型庞贝病患者中立姿势的X射线和三维立体光探测定量评价研究
Paolo De Blasiis,Allegra Fullin,Mario Sansone et al.
Paolo De Blasiis et al.
Background: Late Onset Pompe Disease (LOPD) is a rare myopathy characterized by prevailing weakness of trunk and pelvic girdle muscles that causes motor disabilities. Spinal deformities have been reported unclearly on cli...
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial [0.03%]
开放标记依替菲斑临床试验治疗杜氏肌营养不良症患者：PROMOVI实验
Craig M McDonald,Perry B Shieh,Hoda Z Abdel-Hamid et al.
Craig M McDonald et al.
BackgroundEteplirsen received accelerated FDA approval for treatment of Duchenne muscular dystrophy (DMD) with mutations amenable to exon 51 skipping, based on demonstrated dystrophin production.ObjectiveTo report results from PROMOVI, a ph...
Clinical Trial
Journal of neuromuscular diseases. 2021;8(6):989-1001. DOI:10.3233/JND-210643 2021
Coping in Children and Adolescents with a Genetic Muscle Disorder -Findings from a Population-Based Study [0.03%]
适应能力在遗传性肌肉疾病儿童和青少年中的作用——一项基于人口的研究结果
Kelly M Jones,Aaron Anand,Charmaine Bright et al.
Kelly M Jones et al.
Background: The impacts of genetic muscle disorders on quality of life in affected children are well-documented. However, few studies have investigated children's coping strategies and relationships between coping and qua...
Yoshitsugu Aoki,Matthew J A Wood
Yoshitsugu Aoki
Research and drug development concerning rare diseases are at the cutting edge of scientific technology. To date, over 7,000 rare diseases have been identified. Despite their individual rarity, 1 in 10 individuals worldwide is affected by a...
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis [0.03%]
人类白细胞抗原类二类基因与伊朗肌无力患者的病情严重程度及治疗反应之间的关系
Farnaz Sinaei,Farzad Fatehi,Shahram Oveis Gharan et al.
Farnaz Sinaei et al.
Myasthenia gravis is an autoimmune neuromuscular disease with a multifactorial etiology. A major part of the genetic susceptibility belongs to the HLA encoding genes. In this study, we investigated the role of HLA class II polymorphism in d...
Healthcare Utilisation and Satisfaction with Care in Patients with Amyotrophic Lateral Sclerosis - An Observational Study [0.03%]
肌萎缩侧索硬化患者的医疗利用及满意度研究——一项观察性研究
Marie Kierkegaard,Kristina Gottberg,Sverker Johansson et al.
Marie Kierkegaard et al.
Background: Patients with amyotrophic lateral sclerosis (ALS) need a large amount of healthcare services. Knowledge on use of and satisfaction with healthcare is, however, scarce. ...
Observational Study
Journal of neuromuscular diseases. 2021;8(6):1079-1088. DOI:10.3233/JND-210687 2021
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy [0.03%]
德国查尔斯-马里图特神经病患者的健康相关生活质量及对医疗服务的满意度
Elisabeth Schorling,Katja C Senn,Simone Thiele et al.
Elisabeth Schorling et al.
BackgroundCharcot-Marie-Tooth (CMT) neuropathies entail a large group of diseases with different gene mutation patterns, which produce heterogeneous phenotypes. Although health-related quality of life (HRQOL) is significantly impaired, a co...
Gian Luca Vita,Luisa Politano,Angela Berardinelli et al.
Gian Luca Vita et al.
Background: Increasing evidence suggests that Duchenne muscular dystrophy (DMD) gene is involved in the occurrence of different types of cancer. Moreover, development of sarcomas was reported in mdx mice, the murine model...