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Reid Sutton, M.D.","STUDY_CHAIR",{"name":13,"affiliation":14,"role":11},"Frank Rauch, M.D.","McGill University",[16],{"name":17,"role":18,"phone":19,"phoneExt":7,"email":20},"Dianne Nguyen","CONTACT","713.798.6694","diannen@bcm.edu",[22,43,59,76,93,110,125,142,157,173,187,204],{"facility":23,"status":24,"city":25,"state":26,"zip":27,"country":28,"countryCode":29,"cosmosGeoPoint":30,"geoPoint":35,"contacts":36},"Phoenix Children's Hospital","RECRUITING","Phoenix","Arizona","85016","United States","US",{"type":31,"coordinates":32},"Point",[33,34],-112.07404,33.44838,{"lat":34,"lon":33},[37,40],{"name":38,"role":18,"phone":7,"phoneExt":7,"email":39},"Isabella Wheeler","iwheeler@phoenixchildrens.com",{"name":41,"role":42,"phone":7,"phoneExt":7,"email":7},"Pamela Smith, MD","PRINCIPAL_INVESTIGATOR",{"facility":44,"status":24,"city":45,"state":46,"zip":47,"country":28,"countryCode":29,"cosmosGeoPoint":48,"geoPoint":52,"contacts":53},"University of California Los Angeles","Los Angeles","California","90095",{"type":31,"coordinates":49},[50,51],-118.24368,34.05223,{"lat":51,"lon":50},[54,57],{"name":55,"role":18,"phone":7,"phoneExt":7,"email":56},"Sarah Gaunt","sgaunt@mednet.ucla.edu",{"name":58,"role":42,"phone":7,"phoneExt":7,"email":7},"Deborah Krakow, MD",{"facility":60,"status":24,"city":61,"state":62,"zip":63,"country":28,"countryCode":29,"cosmosGeoPoint":64,"geoPoint":68,"contacts":69},"AI Dupont Hospital for Children","Wilmington","Delaware","19803",{"type":31,"coordinates":65},[66,67],-75.54659,39.74595,{"lat":67,"lon":66},[70,74],{"name":71,"role":18,"phone":72,"phoneExt":7,"email":73},"Katie Richard","302.298.8367","Katherine.Richard@nemours.org",{"name":75,"role":42,"phone":7,"phoneExt":7,"email":7},"Jeanne Franzone, MD",{"facility":77,"status":24,"city":78,"state":79,"zip":80,"country":28,"countryCode":29,"cosmosGeoPoint":81,"geoPoint":85,"contacts":86},"Children's National Medical Center","Washington D.C.","District of Columbia","21205",{"type":31,"coordinates":82},[83,84],-77.03637,38.89511,{"lat":84,"lon":83},[87,91],{"name":88,"role":18,"phone":89,"phoneExt":7,"email":90},"Andrew Pennington","202-476-5562","apenningto@childrensnational.org",{"name":92,"role":42,"phone":7,"phoneExt":7,"email":7},"Laura Tosi, MD",{"facility":94,"status":24,"city":95,"state":96,"zip":97,"country":28,"countryCode":29,"cosmosGeoPoint":98,"geoPoint":102,"contacts":103},"University of South Florida","Tampa","Florida","33620",{"type":31,"coordinates":99},[100,101],-82.45843,27.94752,{"lat":101,"lon":100},[104,108],{"name":105,"role":18,"phone":106,"phoneExt":7,"email":107},"Elaine Deval","813-974-0104","edeval@usf.edu",{"name":109,"role":42,"phone":7,"phoneExt":7,"email":7},"Danielle Gomez, MD",{"facility":111,"status":24,"city":112,"state":113,"zip":80,"country":28,"countryCode":29,"cosmosGeoPoint":114,"geoPoint":118,"contacts":119},"Kennedy Krieger Institute \u002F Hugo W. Moser Research Institute","Baltimore","Maryland",{"type":31,"coordinates":115},[116,117],-76.61219,39.29038,{"lat":117,"lon":116},[120,123],{"name":121,"role":18,"phone":7,"phoneExt":7,"email":122},"Libby Walker","WalkerEl@kennedykrieger.org",{"name":124,"role":42,"phone":7,"phoneExt":7,"email":7},"Malinda Wu, MD",{"facility":126,"status":24,"city":127,"state":128,"zip":129,"country":28,"countryCode":29,"cosmosGeoPoint":130,"geoPoint":134,"contacts":135},"University of Nebraska Medical Center","Omaha","Nebraska","68198",{"type":31,"coordinates":131},[132,133],-95.94043,41.25626,{"lat":133,"lon":132},[136,140],{"name":137,"role":18,"phone":138,"phoneExt":7,"email":139},"Sarah O'Neill","(402) 616-0562","sarah.oneill@unmc.edu",{"name":141,"role":42,"phone":7,"phoneExt":7,"email":7},"Danita Velasco, MD",{"facility":143,"status":24,"city":144,"state":144,"zip":145,"country":28,"countryCode":29,"cosmosGeoPoint":146,"geoPoint":150,"contacts":151},"Hospital for Special Surgery","New York","10021",{"type":31,"coordinates":147},[148,149],-74.00597,40.71427,{"lat":149,"lon":148},[152,155],{"name":153,"role":18,"phone":7,"phoneExt":7,"email":154},"Chloe DeRocher","derocherc@hss.edu",{"name":156,"role":42,"phone":7,"phoneExt":7,"email":7},"Cathleen Raggio, MD",{"facility":158,"status":24,"city":159,"state":160,"zip":161,"country":28,"countryCode":29,"cosmosGeoPoint":162,"geoPoint":166,"contacts":167},"Oregon Health and Science University","Portland","Oregon","97239",{"type":31,"coordinates":163},[164,165],-122.67621,45.52345,{"lat":165,"lon":164},[168,171],{"name":169,"role":18,"phone":7,"phoneExt":7,"email":170},"Melanie Abrahamson","abrahamm@ohsu.edu",{"name":172,"role":42,"phone":7,"phoneExt":7,"email":7},"Eric Orwoll, MD",{"facility":5,"status":24,"city":174,"state":175,"zip":176,"country":28,"countryCode":29,"cosmosGeoPoint":177,"geoPoint":181,"contacts":182},"Houston","Texas","77030",{"type":31,"coordinates":178},[179,180],-95.36327,29.76328,{"lat":180,"lon":179},[183,185],{"name":17,"role":18,"phone":184,"phoneExt":7,"email":20},"713-798-6694",{"name":186,"role":42,"phone":7,"phoneExt":7,"email":7},"V.Reid Sutton, MD",{"facility":188,"status":24,"city":189,"state":190,"zip":191,"country":28,"countryCode":29,"cosmosGeoPoint":192,"geoPoint":196,"contacts":197},"Shriners Hospital for Children, Chicago \u002F Marquette University","Milwaukee","Wisconsin","53201",{"type":31,"coordinates":193},[194,195],-87.90647,43.0389,{"lat":195,"lon":194},[198,202],{"name":199,"role":18,"phone":200,"phoneExt":7,"email":201},"Angela Caudill, MPT","773-385-5868","acaudill@shrinenet.org",{"name":203,"role":42,"phone":7,"phoneExt":7,"email":7},"Karen Kruger, PhD",{"facility":205,"status":24,"city":206,"state":207,"zip":208,"country":209,"countryCode":210,"cosmosGeoPoint":211,"geoPoint":215,"contacts":216},"Shriners Hospital for Children","Montreal","Quebec","H3G 1A6","Canada","CA",{"type":31,"coordinates":212},[213,214],-73.58781,45.50884,{"lat":214,"lon":213},[217,221,223],{"name":218,"role":18,"phone":219,"phoneExt":7,"email":220},"Michaela Durigova","514-282-7158","mdurigova@shriners.mcgill.ca",{"name":222,"role":42,"phone":7,"phoneExt":7,"email":7},"Frank Rauch, MD",{"name":224,"role":225,"phone":7,"phoneExt":7,"email":7},"Francis Glorieux, MD","SUB_INVESTIGATOR",{"type":42,"investigatorFullName":227,"investigatorTitle":228,"investigatorAffiliation":5,"oldNameTitle":7,"oldOrganization":7},"Brendan Lee","Professor and Chairman",[230,232,234,236,238,240,241,243,245,246,247],{"name":231,"class":6},"Shriners Hospitals for Children",{"name":233,"class":6},"Hospital for Special Surgery, New York",{"name":235,"class":6},"Children's National Research Institute",{"name":237,"class":6},"Hugo W. Moser Research Institute at Kennedy Krieger, Inc.",{"name":239,"class":6},"University of California, Los Angeles",{"name":158,"class":6},{"name":242,"class":6},"University of Nebraska",{"name":244,"class":6},"Alfred I. duPont Hospital for Children",{"name":94,"class":6},{"name":23,"class":6},{"name":248,"class":6},"Marquette University","100242310","bbd-longitudinal-study-of-osteogenesis-imperfecta-100242310",false,"NCT02432625","BBD Longitudinal Study of Osteogenesis Imperfecta","Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta","Natural History Study:\n\nInclusion Criteria:\n\n* Individuals with OI diagnosed by molecular (DNA) analysis OR\n* Individuals whose clinical history and radiographs are highly suggestive of OI, but whose diagnosis has not been verified by biochemical or molecular studies\n\nExclusion criteria:\n\n* Individuals who are unable to return for their scheduled follow up visits.\n* Individuals with skeletal dysplasias other than OI\n* Individuals with OI and a second genetic or syndromic diagnosis\n\nVertebral Compression Fractures component Inclusion criteria\n\n• Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 of any age and clinical features of OI type I.\n\nExclusion criteria\n\n* Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment.\n* Conditions other than Osteogenesis Imperfecta-HaploInsufficiency (OI-HI) affecting muscle and\u002For bone development (i.e. cerebral palsy, rickets)\n* Nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency.\n\nScoliosis in OI component:\n\nInclusion Criteria\n\n* All study participants between the ages of 3 to 17 years OR\n* Study participants 18 years and older with scoliosis\n\nDental and Craniofacial Abnormalities in OI component:\n\nInclusion Criteria • All subjects aged 3 years and older enrolled in the Longitudinal Study Exclusion Criteria Subjects who refuse the dental examination\n\nPregnancy in OI component:\n\nInclusion criteria\n\n• Females of reproductive age with mutations in any known gene causing OI, who are contemplating pregnancy within 5 years of enrollment in the Natural History Study OR Females who are pregnant with available pre-pregnancy BMD (within 5 years prior to the first pregnancy visit).\n\nExclusion criteria\n\n* Males\n* Females who are peri-menopausal or menopausal\n* Females who had gestations associated with higher order multiples.","ALL",{"count":258,"type":259},1000,"ESTIMATED","OBSERVATIONAL","Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life.\n\nThe overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.",[263],"Osteogenesis Imperfecta",[263,265,266,267,268],"Collagen","Brittle Bone Disorder","Rare Disease Clinical Research Network","COL1A2","2025-08-08",{"date":271,"type":272},"2025-08-13","ACTUAL",{"date":274,"type":272},"2015-06-01",{"date":276,"type":259},"2031-12-31",{"name":5,"class":6},12]