Defining the natural history and treatment options for Dent Disease

定义牙病的自然史和治疗方案

基本信息

批准号：
7934954
负责人：
John C Lieske
金额：
$ 22.58万
依托单位：
MAYO CLINIC ROCHESTER
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-09-08 至 2014-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7934954
关键词：
Biochemical Biological Preservation Calculi Caregivers Clinical Clinical Data Clinical Trials Collection Communities Consensus Consensus Development Controlled Clinical Trials DNA Data Diagnosis Disease Educational Materials Enrollment Evaluation Event Family Frequencies Functional disorder Future Gene-Modified Genetic Polymorphism Genotype Hereditary Disease Individual Information Resources Inherited International Intervention Kidney Diseases Kidney Failure Knowledge Laboratories Lead Link Longitudinal Studies Meta-Analysis Methods Mutation Natural History Nephrocalcinosis Oculocerebrorenal Syndrome Outcome Patient Care Patient Education Patients Pattern Phenotype Physicians Prevention Procedures Protocols documentation Rare Diseases Records Recurrence Registries Renal function Reporting Research Research Personnel Resources Support Groups Testing Time Tissues Treatment Protocols Urine Urologist clinical phenotype cohort diagnosis evaluation disease registry evidence based guidelines hypercalciuria improved novel patient registry patient/disease registry research clinical testing

项目摘要

Dent disease is a rare X-linked hereditary nephropathy. Due to its rarity, disease expression has not been well defined, progress defining pathophysiology has been slow, and there has been little opportunity to critically evaluate treatment interventions. Therefore, the primary aim of this project is to 1) Develop an international registry for patients with Dent disease. This voluntary registry will be populated with data provided by physicians who care for these patients, usually nephrologists or urologists, or by patients who will supply these records. With such a registry in place we hope to enroll sufficiently large numbers of patients to accomplish the following additional Specific Aims: 2) Identify correlations between genotype and phenotype by collecting data on mutations and polymorphisms in relation to biochemical and clinical data, including that obtained from longitudinal studies of individual patients.; 3) Provide resource information for patients and physicians regarding the diagnosis, management, and outcomes of Dent disease; 4) Establish well-defined patient cohorts for each disease; 5) Generate hypotheses for new research. A Dent disease patient registry will expand knowledge of the clinical expression of this disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date. Data in the registry will allow development of consensus, evidence-based guidelines for diagnosis and management. Dissemination of educational materials will promote understanding of the disease in biomedical and patient communities, and provide resources for the evaluation, diagnosis and management of Dent disease patients. The registry will identify patient cohorts for clinical trials. Finally, the data and materials collected through the registry will promote research to improve understanding of the pathophysiology of Dent disease, its relationship to Lowe syndrome, and generate hypotheses for additional studies.

Dent 病是一种罕见的 X 连锁遗传性肾病。由于其罕见性，疾病的表现尚未得到证实明确定义的病理生理学进展缓慢，并且几乎没有机会批判性地评估治疗干预措施。因此，该项目的主要目标是 1) 为 Dent 病患者建立国际登记处。该自愿登记册将填充由护理这些患者的医生（通常是肾脏科医生或泌尿科医生）或提供这些记录的患者提供的数据。有了这样的注册系统，我们希望招募足够多的患者来实现以下额外的具体目标：2）通过收集与生化和临床数据相关的突变和多态性数据（包括从生物化学和临床数据中获得的数据）来识别基因型和表型之间的相关性对个别患者的纵向研究。 3) 为患者和医生提供有关 Dent 病的诊断、治疗和结果的资源信息； 4) 为每种疾病建立明确的患者队列； 5）为新研究提出假设。登特病患者登记将通过以下方式扩展对该疾病临床表现的了解：系统地积累和分析有关比迄今为止研究的更多患者的信息。登记中的数据将有助于制定共识、基于证据的诊断和管理指南。传播教育材料将促进生物医学和患者社区对该疾病的了解，并为登特病患者的评估、诊断和管理提供资源。该登记处将确定用于临床试验的患者群体。最后，通过注册中心收集的数据和材料将促进研究，以提高对 Dent 病的病理生理学及其与 Lowe 综合征的关系的理解，并为进一步的研究提出假设。