The emerging need to manage patient expectations of haemophilia gene therapy amidst media hype in the UK [0.03%]
媒体热议下的英国：管理患者对血友病基因治疗期望的迫切需要
Laurence Woollard,Richard Gorman
Laurence Woollard
Frequent report of vitamin deficiencies and use of supplements and complementary/alternative treatment approaches in patients with eosinophilic gastrointestinal diseases [0.03%]
嗜酸粒细胞胃肠疾病患者中经常报告维生素缺乏以及使用补充剂和补充/替代治疗方案的情况
Brenderia A Cameron,Elizabeth T Jensen,Xiangfeng Dai et al.
Brenderia A Cameron et al.
Background: Eosinophilic gastrointestinal diseases (EGIDs) impact nutrition. Objectives: To assess the frequency of vitamin deficiencie...
Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathies [0.03%]
患者领导和合作加速SCN8A和其他发育性癫痫性脑病的疗法发展
Gabrielle Conecker,JayEtta Hecker,Michael F Hammer
Gabrielle Conecker
Families are a driving force in accelerating the understanding and science of SCN8A. The urgency felt by families facing the absence of treatments for their children makes them uniquely positioned to advance therapies through advocacy, data...
Paving the way toward treatment solutions for CTNNB1 syndrome: a patient organization perspective [0.03%]
为CTNNB1综合征的治疗铺平道路：患者组织的观点
Špela Miroševič,Shivang Khandelwal,Emily Amerson et al.
Špela Miroševič et al.
The CTNNB1 Connect & Cure and CTNNB1 Foundation, alongside Asociación CTNNB1, CTNNB1 Italia, Association CTNNB1 France, and researchers and clinicians globally are dedicated to finding effective treatments and cures for CTNNB1 syndrome. Th...
Nirogacestat-the pathway to approval of the first treatment for desmoid tumors, a rare disease [0.03%]
尼罗卡司他：首次批准用于治疗罕见病侵袭性纤维瘤病的治疗方法之路
Shivaani Kummar,Nam Bui,Wells A Messersmith et al.
Shivaani Kummar et al.
Drug development for rare diseases can be long, complex, and costly. Desmoid tumors (DT), a rare type of soft-tissue tumor, are associated with substantial and debilitating burden, including disease-specific symptoms (e.g., pain, impaired m...
Tabish Ali Shalwani,Alishan Khowaja,Narmeen Punjwani
Tabish Ali Shalwani
Behçet's disease is a kind of variable vessel vasculitis (VVV) and inflammatory systematic disease affecting various organs of the body. The cause of the disease is idiopathic but is most commonly genetic in origin. A positive skin prick t...
Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund [0.03%]
SYNGAP1相关疾病治疗的推进路线图——SynGAP研究基金（患者组织）的观点
J Michael Graglia,Aaron J Harding,Kathryn A Helde
J Michael Graglia
SYNGAP1-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the SYNGAP1 gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but ...
Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder [0.03%]
TERC突变型端粒生物学障碍患儿骨髓衰竭的首次表现为噬血细胞淋巴组织细胞增多症
Daniel Medina-Neira,Giancarlo Alvarado-Gamarra,Brenda Huamaní-Condori et al.
Daniel Medina-Neira et al.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes a...
WITHDRAWAL - An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent [0.03%]
Withdrawal——一种以亚急性神经精神症状表现为特征的青少年遗传性代谢疾病
[This retracts the article DOI: 10.1177/26330040241290907.]. © The Author(s) 2024.
Retraction of Publication
Therapeutic advances in rare disease. 2024 Dec 26:5:26330040241309151. DOI:10.1177/26330040241309151 2024
Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium [0.03%]
罕见病临床结局评估协会通过罕见病测量取得进展
Naomi Knoble,Lindsey T Murray
Naomi Knoble
There is a significant unmet need to develop and evaluate new treatments for people living with one of approximately 8000 rare diseases. Well-known difficulties in conducting clinical trials (e.g., small samples, wide geographic distributio...