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Preparing for preventive clinical trials in Huntingtonâs disease

准备亨廷顿病的预防性临床试验

基本信息

批准号：
10376345
负责人：
Jane S Paulsen
金额：
$ 62.76万
依托单位：
UNIVERSITY OF WISCONSIN-MADISON
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-03-15 至 2025-01-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10376345
关键词：
Activities of Daily Living Address Adenine Age Behavioral Benchmarking Biological Biological Assay Biological Markers Brain CAG repeat Cell Death Cell physiology Cerebrospinal Fluid Characteristics Clinic Clinical Clinical Trials Clinical Trials Design Cognitive Cost efficiency Cytosine Data Detection Diagnosis Disease Disease Outcome Disease Progression Event Exons Future Genes Genetic Goals Guanine Huntington Disease Huntington gene Huntington protein Individual Inflammatory Interleukin-6 Intervention Investigation Lead Length Measures Motor Natural History Neurodegenerative Disorders Noise Onset of illness Participant Pathway interactions Patient Outcomes Assessments Persons Phenotype Play Positioning Attribute Preventive Clinical Trial Production Property Proteins Psychometrics Publishing Research Research Subjects Resources Role Sample Size Severities Severity of illness Signal Transduction Signs and Symptoms Site Symptoms Testing Time Toxic effect Triad Acrylic Resin blind burden of illness candidate marker clinical outcome measures cost efficient cytokine design disease phenotype functional disability gene therapy inflammatory marker mutant neuron loss novel therapeutics predictive test prevent prognostic prognostic model reduce symptoms research study safety and feasibility success tau Proteins therapeutic target volunteer

项目摘要

Project Summary/Abstract Our group completed the natural history study of premanifest Huntington disease (HD) entitled Predict-HD which evaluated over 1400 research volunteers who were healthy but had undergone the predictive test for the gene that causes HD. Findings revealed that signs and symptoms of HD were evident up to 15 years before the traditional diagnosis of HD was given in the clinic. From these data we were able to develop models of prognosis, disease progression and prediction of HD onset. Disease-modifying clinical trials are currently underway to slow the progression, or delay the onset, of HD. More recently, a collaborative group published an assay to measure the amount of mutant huntingtin protein in the cerebral spinal fluid of HD participants. Questions of central importance to the success of this measure for clinical trials require investigation: (1) how reliable is the measure in the same person when repeated (intra-subject test-retest reliability); (2) how reliable is the measure in the same person when analyzed by two different labs (inter-lab reliability); (3) does the measure reflect disease symptoms (content validity); (4) does the measure predict meaningful disease outcomes (prognostic validity); (5) does the measure track disease progression or severity; and (6) how many (and what stage of HD) research subjects do we need to know with confidence that an intervention is working (i.e., delaying onset/slowing progression)? The proposed research study will address all of these limitations to more effectively test new experimental interventions such as gene therapies and new drugs. Findings will immediately inform how the field should best design preventive clinical trials for HD.

项目总结/文摘

项目成果

期刊论文数量（3）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Responsiveness to Change Over Time: An Examination of the Neuro-QoL Social Function Measures in Persons with Huntington's Disease.

DOI：
10.3233/jhd-190385
发表时间：
2020
期刊：
Journal of Huntington's disease
影响因子：
0
作者：
Carlozzi NE;Boileau NR;Hahn EA;Barton SK;Cella D;McCormack MK;Ready RE
通讯作者：
Ready RE

Linking white matter and deep gray matter alterations in premanifest Huntington disease.

DOI：
10.1016/j.nicl.2016.02.014
发表时间：
2016
期刊：
NeuroImage. Clinical
影响因子：
0
作者：
Faria AV;Ratnanather JT;Tward DJ;Lee DS;van den Noort F;Wu D;Brown T;Johnson H;Paulsen JS;Ross CA;Younes L;Miller MI;PREDICT-HD Investigators and Coordinators of the Huntington Study Group
通讯作者：
PREDICT-HD Investigators and Coordinators of the Huntington Study Group