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Muscular Dystrophy Specialized Research Center: Project 2

肌营养不良症专业研究中心：项目2

基本信息

批准号：
10238933
负责人：
Katherine Dianne Mathews
金额：
$ 30.17万
依托单位：
UNIVERSITY OF IOWA
依托单位国家：
美国
项目类别：
财政年份：
2005
资助国家：
美国
起止时间：
2005-06-08 至 2025-06-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10238933
关键词：
Address Adult Age Agreement Biological Markers Blood Clinical Clinical Trials Clinical Trials Design Data Collection Disease Disease Progression Evaluation Functional disorder Genes Genotype Goals Grouping Heterogeneity Individual Interview Life Limb structure Longitudinal Studies Measures Medical Motor Muscular Dystrophies Mutation Natural History Outcome Outcome Measure Participant Patient Care Patients Peptides Performance Phenotype Physical assessment Plasma Proteins Proteomics Protocols documentation Rare Diseases Research Research Personnel Sampling Site Standardization Study Subject Techniques Telephone Therapy Clinical Trials Travel Urine Validation Work aged base biomarker identification candidate marker candidate validation clinical care clinical phenotype cohort congenital muscular dystrophy disease phenotype dystroglycanopathy early childhood follow-up fukutin related protein insight meetings minimally invasive novel patient biomarkers patient population patient stratification protein biomarkers respiratory telehealth

项目摘要

Project 2 Summary The long-term goal of Project 2 is to define the natural history of the dystroglycanopathies using established and evolving clinical measures, with the overall objective of optimizing clinical care, and informing and enhancing clinical trial design. This will be accomplished in 3 Aims. In Aim 1, we will extend our current work to define the natural history of FKRP-related dystroglycanopathy. We follow a unique cohort of patients aged early childhood through late adulthood with a range of FKRP mutations. We will expand and extend evaluation of this cohort using standard, validated outcome measures. We will engage those who are no longer able to travel due to disease progression with remote assessments allowing us to relate motor outcomes to real-world endpoints (loss of ambulation, need for respiratory support). We will also add additional evaluation sites for this patient cohort to expand the cohort and confirm that the outcome measures are valid across sites for the FKRP-related patient population. In Aim 2, we will extend our follow up of a cohort of dystroglycanopathy patients with mutations in genes other than FKRP. Each of these genotypes is quite rare. We will identify cohorts that share similar rates of motor progression who might be studied together in gene non-specific clinical trials. We will collect annual blood and urine samples from patients evaluated in Aims 1 and 2 and a subset of these samples will be used in Aim 3 for proteomic biomarker identification. Previous work identified a set of candidate protein biomarkers for patients with FKRP mutations. We will validate these in a separate set of patient samples and determine if any change in concert with disease progression. Discovery of new very low abundance proteins will produce novel candidates for validation.

项目二总结