System Wide Operations for Rare Disorders (SWORD)

罕见疾病全系统操作 (SWORD)

• 批准号: 10832417
• 负责人: Helen Kim
• 金额: $ 15.99万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10832417
• 关键词: Address; Agreement; Awareness; Biological; Biological Markers; Blood; Blood specimen; COVID-19 pandemic; Clinical Research; Clinical Trials; Country; Development; Disease; Dissemination and Implementation; Distant; Enrollment; Family; Foundations; Funding; Goals; Hematological Disease; Human; Institution; Institutional Review Boards; Instruction; Laboratories; Laboratory Study; Location; Magnetic Resonance Imaging; Medical Records; Medical Research; Modeling; Patient Participation; Patients; Persons; Process; Protocols documentation; Radiology Specialty; Rare Diseases; Records; Sampling; Services; Shipping; Site; Specimen; Specimen Handling; Sturge-Weber Syndrome; System; Systems Development; Travel; United States National Institutes of Health; Venous blood sampling; Work; clinical care; imaging study; interest; meetings; novel; operation; participant enrollment; patient portal; programs; rare condition; research study; success; telehealth

PROJECT SUMMARY/ABSTRACT Title: System Wide Operations for Rare Disorders (SWORD) Understanding and developing new treatments for human rare disorders presents many challenges. The fact that they are so rare means that patients who could participate in Rare Diseases Clinical Research Network (RDCRN) and other studies do not participate due to a limited number of sites for each study and the distance the patient would have to travel to reach one of these sites. One good thing that has come from the COVID-19 pandemic is the general acceptance that both clinical care and research studies can be performed remotely through telehealth and mailing records and documents to a distant site. While many components of a research study or clinical trial can be conducted remotely, some aspects require actual person- to-person contact. One of these components is blood draws, process, and shipment to core study laboratory following study protocols. Major barriers to blood draws for biomarker studies include the lengthy process of both IRB oversight and reimbursements to institutions that make it highly impractical to set up a site for a handful of patients closer to where they reside. As a means to solve this problem for our BVMC6211 project, here we propose the development of ‘SWORD: A network of all CTSA programs capable of drawing and processing blood samples to act as a patient portal for rare disorder studies and trials. SWORD stands for “System Wide Operations for Rare Disorders”. This proposal will leverage our BVMC 6211 study and for dissemination our partnership with the “Sturge Weber Foundation” (SWF) to disseminate SWORD and address challenges with blood draws, processing, and shipping to core lab as per study protocol for NIH funded multi-sites studies. The overall goal of SWORD is to develop and disseminate an efficient way to enhance enrollment in studies requiring phlebotomy and specimen processing and shipping for patients participating in RDRCN studies who live far from enrollment sites. Success with SWORD for blood draws could quickly expand to other services including radiology and for obtaining other biological specimens.

项目总结/文摘

项目成果

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia.

• DOI: 10.1186/s13023-020-01579-2
• 发表时间: 2021-01-06
• 期刊: Orphanet journal of rare diseases
• 影响因子: 3.7
• 作者: Thompson KP;Nelson J;Kim H;Pawlikowska L;Marchuk DA;Lawton MT;Faughnan ME;Brain Vascular Malformation Consortium HHT Investigator Group
• 通讯作者: Brain Vascular Malformation Consortium HHT Investigator Group

Quantification metrics for telangiectasia using optical coherence tomography.

• DOI: 10.1038/s41598-022-05272-1
• 发表时间: 2022-02-02
• 期刊: Scientific reports
• 影响因子: 4.6
• 作者: Cardinell JL;Ramjist JM;Chen C;Shi W;Nguyen NQ;Yeretsian T;Choi M;Chen D;Clark DS;Curtis A;Kim H;Faughnan ME;Yang VXD;Brain Vascular Malformation Consortium HHT Investigator Group
• 通讯作者: Brain Vascular Malformation Consortium HHT Investigator Group

Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome.

在 Sturge-Weber 综合征中使用灵敏的游离甲状腺素测定的重要性。

• DOI: 10.1177/0883073812463606
• 发表时间: 2013
• 期刊: Journal of child neurology
• 影响因子: 1.9
• 作者: Siddique,Laila;Sreenivasan,Aditya;Comi,AnneM;Germain-Lee,EmilyL
• 通讯作者: Germain-Lee,EmilyL

Increased number of white matter lesions in patients with familial cerebral cavernous malformations.

• DOI: 10.3174/ajnr.a4200
• 发表时间: 2015-05
• 期刊: AJNR. American journal of neuroradiology
• 作者: Golden MJ;Morrison LA;Kim H;Hart BL
• 通讯作者: Hart BL

The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.

• DOI: 10.1002/ajmg.a.36936
• 发表时间: 2015-06
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Pawlikowska, Ludmila;Nelson, Jeffrey;Guo, Diana E.;McCulloch, Charles E.;Lawton, Michael T.;Young, William L.;Kim, Helen;Faughnan, Marie E.
• 通讯作者: Faughnan, Marie E.