Aaron N Cheng,Janet L Kwiatkowski
Aaron N Cheng
β-thalassemia is an inherited blood disorder characterized by chronic anemia, ineffective erythropoiesis, and in its most severe form, lifelong transfusion dependence. The standard of care for transfusion-dependent thalassemia (TDT) is reg...
Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy [0.03%]
基于结果的协议能否利用加拿大神经肌肉疾病登记处的真实世界数据进行操作？脊髓性肌萎缩专家评估的观点
Arif Mitha,Victoria Hodgkinson,Susi Vander Wyk et al.
Arif Mitha et al.
Background: Outcome-based agreements (OBAs) may facilitate earlier patient access to promising therapies, particularly when evidence is limited. The authors of this paper investigated how to operationalize an OBA using re...
Reliability assessment using the test-retest method and minimal important changes in the Adult Fabry Disease Quality of Life Scale [0.03%]
成人法布雷病生活质量量表的测试-重测方法可靠性评估及最小重要变化值确定
Yuta Koto,Masami Tanaka,Mitsuyo Ishiura et al.
Yuta Koto et al.
Background: Fabry disease is rare and multisystemic, necessitating a disease-specific quality of life scale to assess changes in quality of life. We developed the Adult Fabry Disease Quality of Life scale to measure the q...
Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force [0.03%]
罕见病的远程医疗挑战与机遇：IRDiRC 远程医疗工作组关键意见领袖访谈摘要
Melissa A Parisi,Adam L Hartman,Mary Catherine V Letinturier et al.
Melissa A Parisi et al.
The International Rare Diseases Research Consortium (IRDiRC) Telehealth (TH) Task Force explored the use of TH for improving diagnosis, care, research, and education for rare diseases (RDs) worldwide. The Task Force members interviewed 23 k...
Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies [0.03%]
RAS病综合症的神经发育和心理健康照顾的观点
Evelyn M Elizondo,Anne M Floyd,Allison M H Foy et al.
Evelyn M Elizondo et al.
Background: Clinical studies have begun to evaluate therapeutic approaches to address the widespread neurodevelopmental and mental health challenges associated with a group of genetic syndromes known as "RASopathies." How...
A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment [0.03%]
ALDH7A1双等位基因致病性变异所致维生素B6依赖性癫痫的新型疗法：曲普茋胺治疗改善线粒体能量缺乏和神经发育结局
Anastasia Ambrose,Morganne McCabe,Shalini Bahl et al.
Anastasia Ambrose et al.
Background: Pyridoxine-dependent epilepsy (PDE) due to biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1) is an metabolic disease of lysine catabolism. Current standard treatment includes pyridoxine, arginine, and lys...
The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitis [0.03%]
爱尔兰PBC患者登记系统：原发性胆汁性肝硬化国家平台的研究方案
Gerry Nesbitt,Alexandra Curley
Gerry Nesbitt
Background: Primary Biliary Cholangitis (PBC) is a chronic, progressive liver disease. This paper outlines how a PBC patient registry was developed to address the gaps in evidence, care and policy affecting PBC patients i...
Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease [0.03%]
米格鲁司特：一种针对晚发型庞贝病治疗的α-葡萄糖苷酶酸性稳定剂cipaglocasid α的第一类酶稳定剂
Robert J Hopkin,Barry J Byrne,Mazen M Dimachkie et al.
Robert J Hopkin et al.
Late-onset Pompe disease (LOPD) is a rare inherited disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to an accumulation of lysosomal glycogen in tissues, profoundly affecting muscles. Patients with LO...
Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials [0.03%]
阿糖苷酶α联合米格鲁司特治疗晚发型庞贝病的居家给药安全性：多项临床试验结果
Henning Andersen,Jordi Díaz-Manera,Ozlem Goker-Alpan et al.
Henning Andersen et al.
Background: Late-onset Pompe disease (LOPD) is caused by a deficiency of the acid α-glucosidase enzyme. In LOPD treatment, enzyme replacement therapy is delivered via intravenous infusion, typically in clinical settings....
Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs [0.03%]
北美地区的溶酶体贮积症综述：全面回顾酶替代疗法及未满足需求
Lunawati L Bennett
Lunawati L Bennett
This review explores enzyme replacement therapies (ERTs) for lysosomal storage diseases (LSDs), focusing on disease characteristics, mechanisms of action, clinical benefits, limitations, and implications for patient care and access. LSDs ar...