Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders [0.03%]
从患者、照料者和医疗保健提供者的角度理解长链脂肪酸氧化障碍的管理问题
Eileen Sullivan Baker,Jennifer Botham,Tasia Rechisky et al.
Eileen Sullivan Baker et al.
Long-chain fatty acid oxidation disorders (LC-FAODs) are a group of rare, inherited, metabolic disorders that can lead to a wide range of symptoms that predominantly affect organ systems with high energy needs, such as the heart, liver, ske...
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers [0.03%]
理解齿状红核苍白球路易体萎缩(DRPLA)的症状及其对日常生活的影响：一项定性访谈研究
Marielle G Contesse,Rebecca J Woods,Mindy Leffler et al.
Marielle G Contesse et al.
Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, neurodegenerative disorder with no disease-modifying treatments. There is a dearth of information in the literature about the patient and caregiver exper...
Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective [0.03%]
建立资源和提高意识以推进导致鲁卢亚萎缩症的研究迈向治疗：患者组织的视角
Silvia Prades,Andrea Compton,Jeffrey B Carroll
Silvia Prades
Dentatorubral-pallidoluysian atrophy (DRPLA) is an ultra-rare neurodegenerative disorder characterized by ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. This article delves into the multifaceted effo...
Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective [0.03%]
CACNA1A相关性癫痫临床试验路径的制定——患者组织视角
Pangkong M Fox,Sunitha Malepati,Lisa Manaster et al.
Pangkong M Fox et al.
CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast ...
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability [0.03%]
成果评价指标的迷宫：基因神经发育障碍和智力障碍临床试验成果及评估工具综述研究
Annelieke R Müller,Nadia Y van Silfhout,Bibiche den Hollander et al.
Annelieke R Müller et al.
Background: Individuals with genetic neurodevelopmental disorders (GNDs) or intellectual disability (ID) are often affected by complex neuropsychiatric comorbidities. Targeted treatments are increasingly available, but du...
An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective [0.03%]
Dup15q综合征药物研发资金和支持的综合行动方案：患者组织的角度
Ryan Rogers-Hammond,Carrie Howell
Ryan Rogers-Hammond
Maternal 15q11.2-13.1 duplication syndrome, or Dup15q syndrome (Dup15q), is a rare neurodevelopmental disorder affecting as many as 1 in 5000 to 1 in 20,000 children worldwide. Autism and seizures are two of the most commonly observed pheno...
A United States-based patient-reported adult polyglucosan body disease registry: initial results [0.03%]
基于美国的成人多葡萄糖甘体疾病患者报告登记系统：初步结果
Jacy Sparks,Francesco Michelassi,John L P Thompson et al.
Jacy Sparks et al.
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene. Knowledge of the demographic and clini...
The Rare Diseases Clinical Research Network: a model for clinical trial readiness [0.03%]
罕见病临床研究网络：临床试验准备的一个模型
Joanne M Lumsden,Tiina K Urv
Joanne M Lumsden
Background: The current road to developing treatments for rare diseases is often slow, expensive, and riddled with risk. Change is needed to improve the process, both in how we think about rare disease treatment developme...
The pharmacological treatment of granulomatosis with polyangiitis: a review of clinical trials registered in clinicaltrials.gov and the International Clinical Trials Registry Platform [0.03%]
肉芽肿伴多血管炎的药理治疗：来自ClinicalTrials.gov和国际临床试验注册平台的临床研究回顾
Janet Sultana,Nikita Camilleri,Salvatore Crisafulli et al.
Janet Sultana et al.
To date, there is no published overview of the drug pipeline in granulomatosis with polyangiitis (GPA), a rare disease. The aim of this study was to identify clinical trials from two study repositories. A review of clinical trials was condu...
Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics [0.03%]
亨廷顿舞蹈病药物治疗个体化研究（HD-MED）方案：一项纵向观察研究，评估药物使用和疗效与药理遗传学的关系
Stephanie Feleus,Maaike van der Lee,Jesse J Swen et al.
Stephanie Feleus et al.
Background: Huntington's disease (HD) is a hereditary, neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. Currently, HD can only be managed symptomatically, including a large variety o...