The UAB Spina Bifida Patient Registry Demonstration Project

描述：（由申请人提供）据估计，美国目前有7万人患有脊柱裂，这是美国最常见的永久性残疾出生缺陷。脊柱裂是一种神经管缺陷，发生在怀孕的第一个月，脊柱没有完全闭合。由于新的医学治疗和技术，大多数天生患有脊柱裂的人可以过上正常的预期寿命。那些患有这种具有挑战性的先天缺陷的人比20年前梦想的更长寿，更有成效。由于先天缺陷，脊柱裂患者面临着特殊的挑战。在美国，每10000个活产婴儿中就有7个患有脊柱裂，尽管这个数字在全国其他地区似乎在下降，但在阿拉巴马州并不一定是这样。出生时患有脊柱裂的儿童面临许多障碍，包括90%以上病例的脑积水，以及四肢瘫痪和无力以及膀胱/肠道控制能力下降。该项目的第一期非常成功。美国脊柱裂协会资助阿拉巴马州儿童医院（TCHA）和辛辛那提儿童医院为全国脊柱裂诊所开发诊断专用电子病历（EMR）。登记处的问题被嵌入到电子病历（EMR）中，并将由注册站点使用，以电子方式提交所需的数据。II期的具体目标是招募每一位在多学科临床中愿意同意的脊柱裂患者，每年不少于125名新患者。这些数据将被去识别并以电子方式以预先设计的格式提交给疾病控制和预防中心（CDC）。每个站点也可以根据输入的患者信息进行自己的研究，前提是所有机构都已批准保护人体受试者研究。阿拉巴马大学伯明翰分校（UAB）打算提交一份完整的提案，以响应资助机会号RFA-DD-08-001，该提案将被命名为UAB脊柱裂患者注册示范项目。基于我们的专业水平、所提供的大量临床护理以及在阿拉巴马州服务的庞大而多样化的患者群体，我们强烈地认为我们应该被选为参与这项研究的八个站点之一。2007年9月，美国脊柱裂协会（SBAA）选择阿拉巴马州儿童医院和辛辛那提儿童医院共同开发脊柱裂专用电子病历（EMR），该病历将在全国范围内的诊所使用，以跟踪脊柱裂患者，并提高这些患者接受的护理水平。这一选择部分是基于Betsy DeCesare，阿拉巴马州儿童医院（TCHA）脊柱裂临床协调员，在亚特兰大儿童保健中心与血友病相关的类似国家数据库项目中发挥了重要作用。该电子病历将是用于向疾病控制中心（CDC）注册项目提交去识别数据的工具。因此，我们的诊所做好了充分的准备和装备，可以在未来三年内与其他选定的机构合作，努力提高脊柱裂患者的护理质量，并创建一个基础设施来支持基于证据的临床研究。UAB也是许多充满激情的脊柱裂国家领导人的家园。Jeffery Blount博士是一名神经外科医生，目前是脊柱裂协会专业咨询委员会（PAC）的主席。David Joseph博士是泌尿科医生，是SBAA研究委员会主席，也是脊柱裂基金会的董事会成员，也是他们与PAC的联络人。两位医生领导都是UAB多学科脊柱裂团队的成员。在接下来的三年里，阿拉巴马州儿童医院脊柱裂诊所打算招募每位同意的患者参加这项研究，以最大限度地发挥研究潜力。并与其他选定的地点合作，建立基础设施，建立国家脊柱裂登记处。

DESCRIPTION: (Provided by applicant.) There are an estimated 70,000 people in the United States currently living with Spina Bifida, which is the most common permanently disabling birth defect in this country. Spina Bifida is a neural tube defect that happens in the first month of pregnancy when the spinal column doesn't close completely. Thanks to new medical treatments and technology, most people born with Spina Bifida can expect to live a normal life expectancy. Those with this challenging birth defect are living longer, more productive lives than was dreamed of just 20 years ago. People with Spina Bifida face special challenges because of this birth defect. Spina Bifida occurs in an estimated 7 out of every 10,000 live births in the United States and although this number seems to be going down in the rest of the country that is not necessarily true in Alabama. Children born with Spina Bifida face a number of obstacles including hydrocephalus in more that 90% of cases, as well as paralysis and weakness of the extremities and decreased bladder/bowel control. Phase I of the project was highly successful. The Spina Bifida Association of America funded The Children's Hospital of Alabama (TCHA) and The Children's Hospital of Cincinnati to develop a diagnosis specific electronic medical record (EMR) for Spina Bifida clinics nation wide. The registry questions were embedded into to an electronic medical record (EMR) and will be used by the enrolled sites to electronically submit the required data. The Phase II specific aims are to enroll each Spina Bifida patient seen in the multi- disciplinary clinic willing to consent with no less than a minimum of 125 new patients annually. The data will be de-identified and submitted electronically to the Centers for Disease Control and Prevention (CDC) in their pre-designed format. Each site will also be able to conduct their own research based on the information entered on their own patients provided all institutional approvals are in place for the protection of human subject research. The University of Alabama at Birmingham (UAB) intends to submit a full proposal in response to funding opportunity number RFA-DD-08-001, which will be titled The UAB Spina Bifida Patient Registry Demonstration Project. We feel strongly that we should be selected as one of the eight sites participating in this study based on our level of expertise, the significant volume of clinical care given, and the large and diverse patient population served in Alabama. In September 2007, the Children's Hospital of Alabama along with the Children's Hospital Cincinnati were chosen by the Spina Bifida Association of America (SBAA) to develop a spina bifida specific electronic medical record (EMR) that would be used in clinics nationwide to track patients living with spina bifida as well as raise the level of care that these patients receive. This selection was based in part on the fact that Betsy DeCesare, the Spina Bifida Clinic Coordinator at the Children's Hospital of Alabama (TCHA) was instrumental in a similar national data base project related to hemophilia at Children's Healthcare of Atlanta. This EMR will be the instrument used to submit de-identified data to the Center for Disease Control's (CDC) registry project. Therefore, our clinic is most prepared and equipped to participate with the other selected sites over the next three years in an effort to improve the quality of care for individuals with spina bifida, and create an infrastructure to support evidence based clinical research. UAB is also home to many passionate national leaders in spina bifida. Dr. Jeffery Blount a neurosurgeon is currently the Chair of the Spina Bifida Association Professional Advisory Council (PAC). Dr. David Joseph a urologist, is chair of the research committee of the SBAA and on the Board of Directors for the Spina Bifida Foundation and their liaison to the PAC. Both physician leaders are on the UAB multi- disciplinary spina bifida team. Over the next three years, The Children's Hospital of Alabama Spina Bifida Clinic intends to enroll each consented patient into this study to maximize research potential. As well as work with the other selected sites to put the infrastructure in place to develop a national registry for spina bifida.