[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT00001727":3,"trial-entities:NCT00001727":96,"trial-summary:NCT00001727":100},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":8,"brief_summary":14,"detailed_description":15,"conditions":16,"keywords":18,"study_type":22,"primary_purpose":8,"phases":23,"enrollment_info":24,"interventions":27,"primary_outcomes":28,"secondary_outcomes":33,"sex":37,"minimum_age":38,"maximum_age":39,"healthy_volunteers":40,"eligibility_criteria":41,"std_ages":45,"locations":49,"central_contacts":66,"overall_officials":75,"references":78,"see_also_links":92},"NCT00001727","980145","Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome","RECRUITING",null,"2026-03-03","2026-08-04","1998-12-13","National Institute of Dental and Craniofacial Research (NIDCR)","NIH","Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puberty. The bony lesions are frequently disfiguring, disabling and painful, and depending on the location of the lesion, can cause significant morbidity. Lesions in weight-bearing bones can lead to disabling fractures, while lesions in the skull can lead to compression of vital structures such as cranial nerves.\n\nThe natural history of this disease is poorly described and there are no clearly defined systemic therapies for the bone disease. This is a data collection and specimen acquisition protocol. The purpose of the study is to define the natural history of the disease by following PFD\u002FMAS subjects over time and by using in vitro experimentation with samples\u002Ftissue from subjects with the disease.\n\nStudy Objectives\n\n1. Primary Objective\n\n   Define the natural history of disease by gaining clinical and basic information about PFD\u002FMAS by following subjects clinically and using in vitro experimentation with tissue from subjects with the disease.\n2. Secondary Objective\n\nRefer eligible subjects for enrollment into other appropriate research protocols, if any are currently active.\n\nStudy Population\n\nThe study population will include:\n\n1. Subjects with known or suspected Polyostotic Fibrous Dysplasia (PFD) or in combination with McCune-Albright Syndrome (MAS)\n2. Subjects who meet eligibility criteria will be accepted regardless of gender, race, or ethnicity\n\nDesign\n\nThis study is an observational\u002Fnatural history study of PFD\u002FMAS.\n\nOutcome Measures\n\nPrimary\n\n1. Successfully enroll subjects with PFD or MAS for the collection, evaluation and analysis of data obtained from clinical visits.\n2. Obtain onsite and offsite research tissue (waste tissue) from patients with PFD\u002FMAS that are enrolled onto this study or from individuals with PFD\u002FMAS that are offsite and willing to donate waste tissue to NIH. Research tissue will be used with existing primary cell culture technology (ongoing in our laboratories) to:\n\n   * understand the basic bone biology of the pathologic cell (or cells) involved in the lesions of PFD\u002FMAS\n   * determine the presence or absence of mutated cells at \"uninvolved sites\" to formulate better strategies of predicting the initiation of new lesions, the natural history of lesion progression and\u002For response to therapy\n   * understand osteogenic differentiation, in particular, the role of G(s)alpha in these lesions, which will be transferable to our understanding of bone biology in general\n   * understand the pathophysiology of FD and\u002For endocrine lesions\n   * develop better methods of identifying and expanding unaffected bone cells from patients with PFD in an effort to create better grafting material(s)\n3. Identify and predict clinical and biological behavior of fibrous dysplastic bone lesions based on:\n\n   * stability, rate of growth, rate of change, progression and regression, and development of new lesions\n   * differences between cranial, axial and appendicular lesions\n4. Define the natural history of the multiple endocrinopathies associated with MAS and the response to standard of care medications\n5. Define clinical and biological aspects of the disease not previously identified\n6. Generate future research studies related to PFD alone or in combination with MAS\n\nSecondary\n\n1\\) Successfully enroll eligible subjects into active research protocols applicable to the FD\u002FMAS population.","Study Description: Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puberty. The bony lesions are frequently disfiguring, disabling and painful, and depending on the location of the lesion, can cause significant morbidity. Lesions in weight-bearing bones can lead to disabling fractures, while lesions in the skull can lead to compression of vital structures such as cranial nerves.\n\nThe natural history of this disease is poorly described and there are no clearly defined systemic therapies for the bone disease. This is a data collection and specimen acquisition protocol. The purpose of the study is to define the natural history of the disease by following PFD\u002FMAS subjects over time and by using in vitro experimentation with samples\u002Ftissue from subjects with the disease.\n\nStudy Objectives\n\n1. Primary Objective\n\n   Define the natural history of disease by gaining clinical and basic information about PFD\u002FMAS by following subjects clinically and using in vitro experimentation with tissue from subjects with the disease.\n2. Secondary Objective\n\nRefer eligible subjects for enrollment into other appropriate research protocols, if any are currently active.",[17],"McCune-Albright Syndrome",[19,20,21],"Fibrous Dysplasia (FD)","McCune-Albright Syndrome (MAS)","Natural History","OBSERVATIONAL",[],{"count":25,"type":26},500,"ESTIMATED",[],[29],{"measure":30,"description":31,"timeFrame":32},"Primary Objective: Define the natural history of disease by gaining clinical and basic information about PFD\u002FMAS by following patients clinically and using in vitro experimentation with tissue from patients with the disease.","Successfully enroll, evaluate, and manage subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.","2029",[34],{"measure":35,"timeFrame":36},"Refer eligible patients for enrollment into other appropriate research protocols, if any are currently active.","end of study","ALL","1 Day","100 Years",false,{"inclusion":42,"exclusion":43,"raw_text":44},[],[],"* INCLUSION CRITERIA\n\n  1. Any patient, age 1 day of life and older, with a likelihood of having PFD or MAS, based on information from an appropriate referring physician or surgeon or provided by the patient or guardian. The diagnosis will be based on typical findings on bone biopsy or on clinical grounds.\n\nEXCLUSION CRITERIA\n\n1. Patient, child, or parent\u002Fguardian unwilling to fully cooperate with the evaluations.\n2. Patient or parent\u002Fguardian unable to provide informed consent.",[46,47,48],"CHILD","ADULT","OLDER_ADULT",[50],{"facility":51,"status":7,"city":52,"state":53,"zip":54,"country":55,"contacts":56,"geoPoint":63},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[57],{"name":58,"role":59,"phone":60,"phoneExt":61,"email":62},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY dial 711","ccopr@nih.gov",{"lat":64,"lon":65},38.98067,-77.10026,[67,71],{"name":68,"role":59,"phone":69,"email":70},"Olivia J de Jong, C.R.N.P.","(240) 595-2764","olivia.dejong@nih.gov",{"name":72,"role":59,"phone":73,"email":74},"Alison M Boyce, M.D.","(301) 827-4802","alison.boyce@nih.gov",[76],{"name":72,"affiliation":12,"role":77},"PRINCIPAL_INVESTIGATOR",[79,83,86,89],{"pmid":80,"type":81,"citation":82},"32644197","DERIVED","Pan KS, FitzGibbon EJ, Vitale S, Lee JS, Collins MT, Boyce AM. Utility of Optical Coherence Tomography in the Diagnosis and Management of Optic Neuropathy in Patients with Fibrous Dysplasia. J Bone Miner Res. 2020 Nov;35(11):2199-2210. doi: 10.1002\u002Fjbmr.4129. Epub 2020 Aug 24.",{"pmid":84,"type":81,"citation":85},"30496606","de Castro LF, Burke AB, Wang HD, Tsai J, Florenzano P, Pan KS, Bhattacharyya N, Boyce AM, Gafni RI, Molinolo AA, Robey PG, Collins MT. Activation of RANK\u002FRANKL\u002FOPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden. J Bone Miner Res. 2019 Feb;34(2):290-294. doi: 10.1002\u002Fjbmr.3602. Epub 2018 Nov 29.",{"pmid":87,"type":81,"citation":88},"30124968","Robinson C, Estrada A, Zaheer A, Singh VK, Wolfgang CL, Goggins MG, Hruban RH, Wood LD, Noe M, Montgomery EA, Guthrie LC, Lennon AM, Boyce AM, Collins MT. Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4293-4303. doi: 10.1210\u002Fjc.2018-01022.",{"pmid":90,"type":81,"citation":91},"20157193","Brown RJ, Kelly MH, Collins MT. Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab. 2010 Apr;95(4):1508-15. doi: 10.1210\u002Fjc.2009-2321. Epub 2010 Feb 15.",[93],{"label":94,"url":95},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_1998-D-0145.html",{"nct_id":4,"conditions":97,"biomarkers":99},[17,98],"Polyostotic Fibrous Dysplasia",[],{"nct_id":4,"found":101,"summary":102,"prompt_version":112},true,{"design":103,"status":104,"heading":105,"summary":106,"follow_up":107,"word_count":108,"commitments":109,"compensation":110,"drugs_mentioned":111},"This is an observational study with a planned enrollment of 500 participants. It is not testing a specific treatment.","completed","Observational Study for Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome","This is an observational study for people with Polyostotic Fibrous Dysplasia (PFD), a condition where normal bone is replaced by abnormal fibrous tissue, or McCune-Albright Syndrome (MAS), which includes PFD along with skin spots and early puberty. The study aims to understand how these conditions progress over time by collecting clinical information and studying tissue samples from participants. There are no specific interventions (treatments) being tested in this study. Anyone from 1 day to 100 years old with a likely diagnosis of PFD or MAS can potentially join. The goal is to define the natural history of the disease by gathering information until 2029.","Participants will be followed until 2029 to define the natural history of the disease.",104,"Not specified in the trial record.","Not stated in the trial record.",[],"v2"]