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...
Case report on the use of canakinumab for treatment of recurrent fevers and proteinuria in refractory systemic lupus erythematosus [0.03%]
卡那奴单抗治疗难治性系统性红斑狼疮反复发热和蛋白尿的个案报告
Kimia Yavari,Joseph Grisanti
Kimia Yavari
Systemic lupus erythematosus (SLE) is a chronic multiorgan autoimmune disease with a wide range of clinical manifestations and a characteristic renal involvement leading to proteinuria. There remains an unmet need in SLE disease management ...
Toward representative genomic research: the children's rare disease cohorts experience [0.03%]
迈向具有代表性的基因组研究：儿童罕见病队列的经验
Zoë J Frazier,Eurnestine Brown,Shira Rockowitz et al.
Zoë J Frazier et al.
Background: Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such dispariti...
Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers' journey [0.03%]
促进嗜酸细胞性胃肠疾病研究中的多样性、公平性、包容性和可及性：嗜酸细胞性胃肠疾病研究联盟的历程
Mirna Chehade,Glenn Furuta,Amy Klion et al.
Mirna Chehade et al.
In response to the social inequities that exist in health care, the NIH-funded Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) recently formed a diversity committee to examine systemic racism and implicit bias in the...
A multidisciplinary approach to treating a unique case of recurrent metastatic thymic carcinoma: case report [0.03%]
复发性转移性胸腺癌独特病例的综合治疗：个案报告
Carol Wang,David Erick Elkowitz,Michael John Esposito et al.
Carol Wang et al.
Thymic carcinoma (TC) is a rare and aggressive malignancy of the thymus associated with less than 25% 5 years survivability. Our case report showcases the successful treatment of advanced metastatic TC using a multidisciplinary approach and...
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies [0.03%]
罕见病研究IRDiRC工作组：吸引企业参与罕见病研究的羽化阶段任务小组
Katherine L Beaverson,Daria Julkowska,Mary Catherine V Letinturier et al.
Katherine L Beaverson et al.
Background: The International Rare Diseases Research Consortium (IRDiRC) is an international initiative that aims to use research to facilitate rapid diagnosis and treatment of rare diseases. ...
Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review [0.03%]
Persistent Mullerian管综合症罕见表现的手术切除治疗：病例分析回顾
Iwens Moreira de Faria,Augusto Machado de Souza,Luiz Rodrigues Pereira Júnior et al.
Iwens Moreira de Faria et al.
Persistent Mullerian Duct Syndrome (PMDS) is an extremely rare disease with less than 300 cases recorded in medical literature. Our patient was a 37 year old male who presented at the medical office with hematospermia as his sole complaint....