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：
8538357
负责人：
John C Lieske
金额：
$ 19.16万
依托单位：
MAYO CLINIC ROCHESTER
依托单位国家：
美国
项目类别：
财政年份：
资助国家：
美国
起止时间：
至 2014-09-19
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8538357
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 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 Postdoctoral Fellow 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 web site

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.

凹陷疾病是一种罕见的X连锁遗传性肾病。由于其稀有性，疾病表达尚未定义明确的，定义病理生理学的进展很慢，几乎没有机会批判性地评估治疗干预措施。因此，该项目的主要目的是1）针对凹陷疾病的患者开发国际注册处。该志愿注册中心将由照顾这些患者（通常是肾脏病医生或泌尿科医生）或将提供这些记录的患者提供的医生提供的数据。有了这样的注册表，我们希望通过收集有关生物化学和临床数据的突变和多态性数据来识别基因型和表型之间的相关性，以确定基因型和表型之间的相关性，包括与生化和临床数据有关的数据，包括从对个别患者的纵向研究。 3）为患者和医生提供有关抑郁疾病的诊断，管理和结果的资源信息； 4）为每种疾病建立明确定义的患者队列； 5）提出新研究的假设。疾病疾病患者登记处将通过系统地积累和分析有关迄今为止研究的更多患者的信息。注册表中的数据将允许制定共识，基于证据的诊断和管理指南。教育材料的传播将促进对生物医学和患者社区中疾病的理解，并为凹陷疾病患者的评估，诊断和管理提供资源。该注册表将确定患者队列的临床试验。最后，通过注册中心收集的数据和材料将促进研究，以提高人们对凹痕疾病的病理生理学的理解，与Lowe综合征的关系，并产生假设以进行其他研究。