权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Longitudinal Study of Bone and Endocrine Disease in Children with MPS I, II, and VI: A Multi-Center Study of the Lysosomal Disease Network

MPS I、II 和 VI 儿童骨和内分泌疾病的纵向研究：溶酶体疾病网络的多中心研究

基本信息

批准号：
8934172
负责人：
Lynda Elizabeth Polgreen
金额：
$ 9.6万
依托单位：
UNIVERSITY OF MINNESOTA
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
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/8934172
关键词：
Activities of Daily Living Adolescent Adult Affect Animal Model Apoptosis Articular Range of Motion Biological Markers Bone Density Bone Diseases Bone remodeling Cartilage Child Childhood Chondrocytes Chronic Clinical Research Computers Contracture Data Databases Deposition Disease Disease Progression Dysplasia Early treatment Endocrine Endocrine Bone Diseases Evaluation Fracture Future Glycosaminoglycans Goals Growth Hand Health Height Hip region structure Hyperplasia Individual Inflammation Instruction Joints Kyphosis deformity of spine Laboratories Life Longitudinal Studies Measurement Measures Minnesota Mucopolysaccharidoses Mucopolysaccharidosis I Mucopolysaccharidosis I S Mucopolysaccharidosis VII Multicenter Studies Musculoskeletal Diseases Necrosis Observational Study Osteitis Osteoporosis Pain Participant Patients Pediatric Hospitals Peripheral Pharmaceutical Preparations Physical Function Population Prognostic Marker Quality of life Questionnaires Reporting Research Risk Serum Severities Severity of illness Synovial Fluid Synovial Membrane TNF gene Terminator Codon Testing Therapeutic Clinical Trial Therapeutic Studies Time Translational Research Treatment Efficacy Tumor Necrosis Factor-alpha Universities Utah Vertebral column bone bone geometry bone health bone turnover cognitive development cohort enzyme replacement therapy experience gene therapy grasp hematopoietic cell transplantation improved insight muscle strength response scoliosis skeletal skeletal abnormality skeletal disorder therapeutic target tomography tumor young adult

项目摘要

Approximately 85% of individuals with Mucopolysaccharidosis (MPS) type I, II, or VI report weekly pain and 50-60% have significant limitations in their activities of daily living due to MPS related musculoskeletal disease despite treatment with enzyme replacement therapy (ERT). Thus there is a critical need to identify additional therapies to alleviate the burden of musculoskeletal disease in order to improve the health and quality of life of individuals with MPS. However, disease progression needs to be quantified to be able to determine efficacy of new therpies. The proposed study is a multi-institutional, 5-year, longitudinal study of musculoskeletal disease in MPS. The long-term goal is to identify and test new therapies for musculoskeletal disease in MPS. The objective of this proposed study is to quantitatively describe the progression of skeletal disease and identify biomarkers that either predict disease severity or could be used as therapeutic targets in individuals with MPS I, II, and VI. Our central hypothesis is that skeletal disease will progress over time and that biomarkers of inflammation, and bone and cartilage turnover, will predict the severity of skeletal disease over time. Specific aims are 1) to characterize the progression of skeletal disease from childhood into young adulthood and 2) to identify prognostic biomarkers of inflammation, bone remodeling, and cartilage turnover that can predict the progression of skeletal disease and impaired physical function. To achieve these aims, participants will be evaluated annually with measures of bone health (dualenery x-ray absorptiometry, peripheral quantitative computer tomography, hip and spine x-rays), physical function (muscle strength by Biodex and hand grip dynamometer, range of motion testing, and questionnaires of physical function and pain), and laboratory measurements of biomarkers of bone turnover, cartilage breakdown, and inflammation. A database of standardized measurements of musculoskeletal disease in MPS will allow the field to efficiently move forward with therapeutic clinical trials in patients with MPS.

大约85%的粘多糖病（MPS） I型、II型或VI型患者报告每周疼痛和疼痛