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Brittle Bone Disorders Consortium of the Rare Disease Clinical Research Network

罕见疾病临床研究网络脆性骨疾病联盟

基本信息

批准号：
8765079
负责人：
Brendan Lee
金额：
$ 125.81万
依托单位：
BAYLOR COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2014
资助国家：
美国
起止时间：
2014-08-06 至 2019-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8765079
关键词：
Adult Advocacy Affect Antibodies Baltimore Biochemistry Biological Markers Biometry Bone Diseases Boxing Canada Chicago Child Childhood Clinical Clinical Research Clinical Treatment Collagen Collagen Gene Collagen Type I Complex Data Deformity Dental Development Diagnosis Diagnostics Research Disease District of Columbia Dose E-learning Educational workshop Epidemiology Faculty Family Fellowship Florida Foundations Fracture Gender Genes Genetic Genetic Predisposition to Disease Genotype Health Personnel Health Sciences Hereditary Disease Heterogeneity Hospitals Human Human Subject Research Hydroxylation Industry Information Systems Institutes Knowledge Lead Life Link Los Angeles Mass Spectrum Analysis Measurement Measures Medical Medical Students Medical center Medicine Molecular Genetics Mutation Natural History New York New York City Observational Study Operative Surgical Procedures Oregon Osteogenesis Imperfecta Outcome Patient Outcomes Assessments Patient advocacy Patients Pattern Phase Phase I Clinical Trials Phenotype Physicians Pilot Projects Post-Translational Protein Processing Pregnancy Primary Health Care Principal Investigator Race Rare Diseases Recruitment Activity Research Research Personnel Research Training Resources Rotation Severities Severity of illness Signal Pathway Signal Transduction Signaling Protein Site Special Hospitals Spinal Fractures Structure System Testing Therapeutic Training Translating Universities Wages Washington base biomechanical engineering bone burden of illness chronic pain clinical research site cohort college control trial craniofacial crosslink design disease natural history member mouse model multidisciplinary novel preclinical study public health relevance research study response scoliosis skeletal success therapeutic target tool trafficking urinary

项目摘要

DESCRIPTION (provided by applicant): This is an application to establish a Brittle Bones Disorders Rare Disease Clinical Research Consortium (BBD RDCRC) focused on studying the over 13 genetic conditions that not contribute to the Osteogenesis Imperfecta (OI) phenotype. The BBD RDCRC is composed of 8 primary clinical sites (Houston, Los Angeles, Portland, Chicago, Montreal, New York City, Baltimore, Washington DC), 2 core sites (Seattle and Tampa), one training & advocacy site (Osteogenesis Imperfecta Foundation), and an Administrative unit (Houston). We propose two clinical projects. Project 1 is a Longitudial study of OI focused on correlating genotype to phenotype, natural history of vertebral fractures in OI type I, scoliosis in severe OI, pregnancy i OI, and craniofacial/dental features in severe Ol. Project 2 is a Phase I trial of an anti-TGFb therapy Fresolimumab in severe OI in the context of a dose ranging study followed by an extension repeat dosing study. There will be two Pilot Projects. The first focuses on the development of mass spectrometric analysis of urinary collagen cross-link patterns as a tool for distinguishing different mechanistic causes of Ol and for correlating with disease severity. The second focuses on validating aspects of the PROMIS tool for adults with OI. An important partner will be the Osteogenesis Imperfecta Foundation (OIF) and the Training and Advocacy activities will be coordianted by the OIF. They include establishment of a new fellowship for clinical research training, a clinical bone research training workshop, and development of a "tool box" of web-based training for primary healthcare providers to extend the knowledge gained by these studies to patients. Finally, the administration of the BBD RDCRC will be based in Houston at the Baylor College of Medicine. The BBD RDCRC will be leveraged by resources from the OIF who will directly support two of the clinical sites and a pilot project on PROMIS, the Shriners Hospital system, and institutional commitments from Baylor College of Medicine. The BBD RDCRC is built on established cohorts of the OIF Linked Longitudinal Clinical Research Centers and established expertise in pediatric and adult interventional studies that demonstrates a track record of success in patient advocacy, recruitment, and retention for clinical research studies.

描述（由申请人提供）：