The small steps that lead to big impact: translating therapeutics from idea to reality for the CDKL5 deficiency disorder community [0.03%]
通向重大影响的小步骤：将疗法从想法转化为现实以造福CDKL5缺陷症患者社群
Amanda Jaksha,Marissa Bishop,Karen Utley et al.
Amanda Jaksha et al.
Despite the unmet needs of patients living with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and the challenges facing a rare population with small patient numbers, now is a time of unprecedented opportunities to turn sc...
Successful use of an eye gaze AAC communication board by a young adult with advanced Sanfilippo Syndrome (MPS IIIA): Case report [0.03%]
先进的桑菲利波综合征(MPS IIIA)青年患者使用眼部凝视AAC交流板的成功案例报告
Christine Brennan,Abigail Matthews,Sherri Tennant
Christine Brennan
Sanfilippo syndrome (Mucopolysaccharidosis Type III or MPS III) is a family of rare, lysosomal disorders characterized by progressive cognitive and motor deterioration. Even though individuals with MPS III present with complex communication...
The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization [0.03%]
SLC13A5柠檬酸转运蛋白障碍的研究工具箱日益扩大：一种具有动物模型、细胞系、正在进行的自然史研究和积极参与的患者倡导组织的罕见病
Tanya L Brown,Matthew N Bainbridge,Grit Zahn et al.
Tanya L Brown et al.
TESS Research Foundation (TESS) is a patient-led nonprofit organization seeking to understand the basic biology and clinical impact of pathogenic variants in the SLC13A5 gene. TESS aims to improve the fundamental understanding of citrate's ...
Anna C Pfalzer,Blake Ivers,Alayna Haynam et al.
Anna C Pfalzer et al.
The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this a...
The role of the TSC Alliance in advancing therapy development: a patient organization perspective [0.03%]
TSC联盟在促进疗法开发方面的角色：患者组织的视角
Steven L Roberds,Zoë Fuchs,Elizabeth M Cassidy et al.
Steven L Roberds et al.
Tuberous sclerosis complex (TSC) is a genetic disease leading to malformations, or tubers, in the cerebral cortex and growth of tumors, most frequently in the brain, heart, kidneys, skin, and lungs. Changes in the brain caused by TSC usuall...
Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome [0.03%]
患者组织视角：Okur-Chung神经发育综合征的研究路线图
Gabrielle V Rushing,Jennifer Sills
Gabrielle V Rushing
Okur-Chung neurodevelopmental syndrome (OCNDS) is an ultra-rare disorder caused by variants in the CSNK2A1 gene. CSNK2A1 encodes for the alpha subunit of casein kinase 2 (CK2), a serine/threonine kinase critical in neural development. CK2 i...
Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials [0.03%]
以患者和倡导者为主导的全球联盟正在根据实际情况调整结局衡量指标，以确保临床上对DEE患者的有意义的包容性
JayEtta Hecker,Gabrielle Conecker,Chere Chapman et al.
JayEtta Hecker et al.
Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of inte...
Corrigendum to "Proceedings from the MENA Congress for Rare Diseases, 16-19 May 2024, Abu Dhabi, UAE" [0.03%]
“2024年5月16-19日，阿联酋阿布扎比中东和北非罕见病大会会议记录”的勘误表
[This corrects the article DOI: 10.1177/26330040241238936.]. © The Author(s), 2024.
STXBP1: fast-forward to a brighter future - a patient organization perspective [0.03%]
STXBP1：加速走向更光明的未来——患者组织视角
James R Goss,Benjamin Prosser,Ingo Helbig et al.
James R Goss et al.
Syntaxin-binding protein 1 related disorder (STXBP1-RD) is a rare neurologic disorder associated with global neurodevelopmental delay, intellectual disability, early-onset epilepsy, motor abnormalities, and autism. The underlying pathophysi...