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Methods to Improve Clinical Trials for A-T

改进 A-T 临床试验的方法

基本信息

批准号：
10045957
负责人：
MAUREEN A LEFTON-GREIF
金额：
$ 24.49万
依托单位：
JOHNS HOPKINS UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-06-25 至 2022-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10045957
关键词：
ATM gene Activities of Daily Living Address Ataxia Telangiectasia Ataxia Telangiectasia Patients Atrophic Biological Assay Birth Blood specimen Caring Cerebellar degeneration Child Clinical Clinical Research Clinical Trials Communities Complex Data Development Diabetes Mellitus Disease Effectiveness Evaluation Family Frequencies Genotype Goals Growth High-Risk Cancer Hospitals Immune Immunologic Deficiency Syndromes Infection Insulin Resistance Intervention Laboratory Markers Life Lung diseases Malignant neoplasm of lung Measures Metabolic syndrome Methods Modeling Mutation Natural History Neurologic Neurologic Deficit Outcome Outcome Measure Patients Pattern Phosphotransferases Physical assessment Population Predisposition Quality of life Radiation Tolerance Rare Diseases Recurrence Research Personnel Sample Size Severities Severity of illness Stratification System Testing Therapeutic Effect Therapeutic Intervention Treatment Efficacy Western Blotting Work World Health Organization base clinical center clinical examination cohort data resource improved intervention effect multidisciplinary phenotypic biomarker predictive marker recruit tool

项目摘要

PROJECT SUMMARY / ABSTRACT Ataxia Telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, pulmonary disease and cancer susceptibility. A-T is complex and highly variable in terms of presentation and severity, but the factors responsible for its variability are not completely understood. In 1995, an A-T Clinical Center was established at Johns Hopkins Hospital (JHH); its goal is to collect natural history data and provide multi- disciplinary care for people with A-T. The long term goals of this proposal are to optimize clinical trials for A-T by creating a system for classifying A-T patients into severity groups and creating a validated functional rating scale for A-T. This work will leverage the data and resources of the A-T Clinical Center. This proposal’s objectives are to better define A-T disease severity and develop a detailed and definitive functional rating scale for activities of daily living. Our central hypotheses are that: a. the onset and frequency of A-T’s clinical features cluster in a way that allows assignment of patients into severity groups (e.g. severe, moderate, or mild) and b. an A-T specific functional rating scale will capture changes in disease severity that are meaningful to patients with A-T. These hypotheses will be tested through the following Specific Aims: 1. Stratification of A-T Severity using Genotypic, Phenotypic and Laboratory markers. There is a need to better define severity groups in A-T beyond the current state of the art. Stratification of A-T disease severity will utilize the large and diverse JHH cohort of patients with A-T and will be achieved through the identification of a variety of markers that predict or define disease severity. 2. Development of a Validated Functional Rating Scale for A-T. A validated functional rating scale for A-T does not exist. With input from the A-T Children’s Project Family Advisory Council and a World Health Organization (WHO) consultant, our scale will integrate the functional scale framework developed by the WHO and will be validated against the A-TNEST (an A-T-specific neurologic scale), clinical exams and the PEDS-QL™. The expected outcomes of this project are a quantitative model that will provide a simple and objective way to determine disease severity in A-T, and a scale that will rate meaningful changes in functional severity. These outcomes will directly impact sponsors and investigators wishing to gauge the efficacy of treatment interventions in clinical trials for this complex and highly variable disease.

项目摘要/摘要