Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
报名条件（概要）
- 年龄：18 Years – 120 Years
- 性别：不限
- 健康志愿者：接受
完整入排标准请以官方页面为准。
开展国家/地区
United States
药品与企业信息
Assay sequencing platform to identify pathogenic genetic mutations in DNA and RNA
Imatinib at 100-200 mg PO QD based on arm assignment/dose level
研发企业
试验官方登记的主要申办方；研究机构申办时会显示相应机构名称。
生产企业
公开药品批准资料或正式说明书暂未提供明确的生产企业信息。
研发企业与生产企业可能不是同一家。研究阶段药品可能尚未公布生产企业；生产企业仅取自美国上市原研药说明书所列企业（不含仿制药），不作推测；仅在其他国家上市的药品暂无法显示。
研究简介（原文）
Background: Runt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood, bone marrow, and lymph nodes. Objective: The purpose of the study includes determining which dose of imatinib is best for people with pathogenic or likely pathogenic RUNX1 mutations without blood cancers, and to determine whether there are any changes in platelet function and inflammatory markers. Eligibility: Adults aged 18 and older with RUNX1 mutations. Healthy people without this mutation, including family members of affected participants, are also needed. Design: Participants with the RUNX1 mutation will be screened. They will have a physical exam with blood tests. They will have a test of their heart function. They may need a new bone marrow biopsy if they haven't had one in the past year. Imatinib is a tablet taken by mouth once a day, every day, at home. Affected participants in different parts of the study will take imatinib for either 42 days or up to 98 days. They will fill out questionnaires about how they are feeling. For the first part of the study, participants will have blood tests every 2 weeks, either at home or at the NIH, while they are taking the imatinib. They will have a follow up visit, at home or at the NIH, when they are done taking imatinib on Day 42. Participants on the second part of the study will come to NIH on days 1 and days 98. They will have blood tests every 2 weeks (at home or the NIH) while they are taking imatinib. They may opt to have a bone marrow biopsy repeated after they finish their course of imatinib. Participants will have a follow-up visit (at home or the NIH) 30 days after they stop taking imatinib. Participants who do not have the RUNX1 mutation will have 1 clinic visit. They will have blood tests. They will fill out questionnaires. They may opt to have a bone marrow biopsy.
适应症
主动联系研究团队
这项试验目前在中国大陆没有研究中心
这种情况下，直接发"入组咨询"往往会被回复"您所在地区没有中心"。更有效的做法是申请同情用药／扩展准入（由主治医生一同提出），或询问能否到最近的境外中心参加。下面已为您切换到对应的信件版本。
查看完整申请路径与成功率说明 →总联系人（申办方／研究总部）
- Danielle F Pinkiert, R.N.danielle.pinkiert@nih.gov(240) 858-7566
- Lea C Cunningham, M.D.lea.cunningham@nih.gov(301) 642-1633
研究中心联系方式
- National Institutes of Health Clinical CenterBethesda，Maryland，United States
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英文版（发给研究团队）
Dear Study Team, I am a patient in China and I am interested in participating in your clinical trial: Study Title: Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency ClinicalTrials.gov Identifier: NCT06090669 Sponsor: National Cancer Institute (NCI) Investigational product: TruSight Oncology, imatinib About me: - Age: (please fill in) - Sex: (please fill in) - Confirmed diagnosis and stage: (please fill in) - Biomarkers / genetic testing: not available - Prior and current treatments: (please fill in) - Performance status (ECOG): not assessed - Current location: China - Travel ability: (please fill in) Could you please let me know: 1. Whether I might be eligible for this study; 2. Which site would be closest and most practical for me, and whether remote pre-screening is possible; 3. What documents (medical records, pathology or imaging reports, recent labs) I should prepare for pre-screening. I can provide English translations of my medical records. Thank you very much for your time and help. Kind regards, (your name) (your email / phone with country code)
中文对照（供您核对）
尊敬的研究团队： 我是一位来自中国的患者，希望咨询参加以下临床试验的可能： 研究名称：Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency 试验编号：NCT06090669 申办方：National Cancer Institute (NCI) 研究药物：TruSight Oncology、imatinib 我的基本情况： - 年龄：（请填写） - 性别：（请填写） - 确诊疾病与分期：（请填写） - 基因／标志物检测：暂无 - 既往及当前治疗：（请填写） - 体能状态（ECOG）：未评估 - 目前所在城市：中国 - 可前往范围：（请填写） 想请教三个问题： 1. 我是否可能符合本研究的入组标准？ 2. 哪个中心对我最方便可行？能否远程预筛？ 3. 预筛需要准备哪些资料（病历、病理、影像、近期化验）？ 我可以提供英文翻译版病历。感谢您的时间与帮助。 顺祝安康 （您的姓名） （您的邮箱／带国际区号的电话）
提示：请与主治医生一起发信——由医生署名的申请，回复率远高于患者单独发信。首封邮件不要附身份证号等敏感信息。研究团队通常在 3–10 个工作日内回复，两周无回音可礼貌追问一次。
下一步怎么做？
- 把本页信息带给您的主治医生，评估是否适合参加。
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- 直接联系研究团队咨询报名事宜（通常有中文同声翻译服务可协助沟通）。