[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mccune-albright-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mccune-albright-syndrome":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,40,76,100],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":4,"leadSponsor":36,"locationsCount":39},"100054702","screening-and-natural-history-of-patients-with-polyostotic-fibrous-dysplasia-and-the-mccune-albright-syndrome-100054702",false,"NCT00001727","Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome","* 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.","ALL","1 Day","100 Years",{"count":19,"type":20},500,"ESTIMATED","OBSERVATIONAL","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....",[24],"McCune-Albright Syndrome",[26,27,28],"Fibrous Dysplasia (FD)","McCune-Albright Syndrome (MAS)","Natural History","RECRUITING","2026-06-27",{"date":32,"type":33},"2026-06-30","ACTUAL",{"date":35,"type":33},"1998-12-13",{"name":37,"class":38},"National Institute of Dental and Craniofacial Research (NIDCR)","NIH",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":48,"sex":15,"minAge":49,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":52,"phases":53,"briefSummary":55,"conditions":56,"keywords":59,"overallStatus":65,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":39},"100629599","paindyscharacterizing-pain-in-fibrous-dysplasia-of-bonemccune-albright-syndrome-an-exploratory-pilot-study-100629599","NCT07476768","PAINDYS_Characterizing Pain in Fibrous Dysplasia of Bone\u002FMcCune-Albright Syndrome: an Exploratory Pilot Study","Characterizing Pain in Fibrous Dysplasia of Bone\u002FMcCune-Albright Syndrome: an Exploratory Pilot Study","PAINDYS","Inclusion Criteria:\n\n* For patients :\n* Male or female over 18 years of age with fibrous dysplasia\u002FMcCune-Albright syndrome diagnosed by a rheumatologist.\n* Mentally and legally able to provide informed consent to participate in the study.\n* Affiliated with a health insurance system.\n* For healthy volunteers :\n* Male or female over 18 years of age.\n* Matched to patients by age and sex.\n* Mentally and legally able to provide informed consent to participate in the study.\n* Affiliated with a health insurance system.\n\nExclusion Criteria:\n\n* For patients :\n* Medical and\u002For surgical history considered by the investigator or delegated physician to be incompatible with study procedures (e.g., amputation or physical limitation preventing completion of pain assessment tests).\n* Recurrent pain at sites planned for stimulation during thermal and mechanical testing (forearms or palms).\n* Presence of anxiety and\u002For depression defined as Hospital Anxiety and Depression Scale (HADS) score \\>11.\n* Use of analgesic medication within the week preceding inclusion.\n* Use of complementary treatments for analgesic purposes (e.g., vitamins, herbal products, cannabinoids).\n* Individuals under legal protection (guardianship or trusteeship) or deprived of liberty.\n* Pregnant or breastfeeding women.\n* Refusal to participate.\n* For heathly volunteers :\n* Medical and\u002For surgical history considered by the investigator or delegated physician to be incompatible with study procedures (e.g., amputation or physical limitation preventing completion of pain assessment tests).\n* Presence of sleep disorders defined as Pittsburgh Sleep Quality Index (PSQI) score \\>5.\n* Presence of anxiety and\u002For depression defined as HADS score \\>11.\n* Use of analgesic medication within the week preceding inclusion.\n* Use of complementary treatments for analgesic purposes (e.g., vitamins, herbal products, cannabinoids).\n* Individuals under legal protection (guardianship or trusteeship) or deprived of liberty.\n* Pregnant or breastfeeding women.\n* Refusal to participate.",true,"18 Years",{"count":51,"type":20},40,"INTERVENTIONAL",[54],"NA","Fibrous dysplasia of bone (FD) \u002F McCune-Albright syndrome (MAS) is a rare congenital bone disorder affecting one or multiple bones, caused by a mosaic somatic mutation of the GNAS gene. In some cases, it may be associated with endocrine or cutaneous abnormalities. The spectrum of bone disease is broad, ranging from isolated monostotic fibrous dysplasia to complete skeletal involvement. Functional prognosis can be complex due to pain, bone deformities, and fracture risk. The disease may initially be identified through non-specific clinical signs such as pain. Indeed, bone pain has been reported in up to 81% of adults and 49% of children, mainly affecting the lower limbs and the spine, with highly variable pain intensity that does not always correlate with the extent of bone lesions. This pain may persist throughout life and impact patients' daily activities.\n\nIn the general population, it is well known that chronic musculoskeletal pain following events such as surgery or fractures can be associated with central sensitization, a neurophysiological phenomenon characterized by hyperreactivity of the central nervous system, along with impaired modulation of pain through descending inhibitory pathways, a normally protective mechanism that becomes reduced. The pathophysiology of bone pain in FD\u002FMAS remains poorly studied and poorly understood. The presence of central sensitization, reduced pain modulation, and hypersensitivity to everyday stimuli are rarely described but suggested by the existence of chronic pain often lasting many years. The mixed characteristics of pain experienced (nociceptive, neuropathic, inflammatory, or nociplastic) are also poorly defined. To date, no study has explored pain in FD\u002FMAS using a psychophysical approach in comparison with a control population.\n\nOur hypothesis is that patients with FD\u002FMAS exhibit central sensitization with reduced pain modulation. This exploratory pilot study aims to investigate, through psychophysical approaches, the pathophysiological mechanisms underlying pain in FD\u002FMAS.",[57,58],"Fibrous Dysplasia of Bone","McCune Albright Syndrome",[60,61,62,63,64],"Pain Modulation","Pain","Fibrous Dysplasia","Pain Caracterization","Central pain sensitization","NOT_YET_RECRUITING","2026-03-12",{"date":68,"type":33},"2026-03-17",{"date":70,"type":20},"2026-03-01",{"date":72,"type":20},"2027-03-01",{"name":74,"class":75},"University Hospital, Clermont-Ferrand","OTHER",{"id":77,"slug":78,"hasResults":11,"nctId":79,"briefTitle":80,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":82,"targetDuration":84,"studyType":21,"phases":4,"briefSummary":85,"conditions":86,"keywords":88,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":39},"100303552","fibrous-dysplasia-mccune-albright-syndrome-patient-registry-100303552","NCT03231644","Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry","Inclusion Criteria any one or more of the following:\n\n* clinical diagnosis of fibrous dysplasia\n* clinical diagnosis of McCune-Albright syndrome\n* clinical diagnosis of Mazabraud's syndrome",{"count":83,"type":20},600,"2 Years","The FD\u002FMAS Patient Registry is an IRB-approved research study that that invites the patients and families to help answer some of the biggest questions about FD\u002FMAS by completing questionnaires about their lives with FD or MAS.\n\nHave you enrolled in the FD\u002FMAS Patient Registry yet? Are you up-to-date on your surveys? Take a trip to www.fdmasregistry.org today to learn more about the project, enroll, complete your surveys, or make sure you aren't due to provide more info!\n\nThe FD\u002FMAS Patient Registry: Your story powers research.",[62,58,87],"Mazabraud Syndrome",[62,24,89,90],"Mazabrauds","FD\u002FMAS","2025-08-07",{"date":93,"type":33},"2025-08-12",{"date":95,"type":33},"2016-10-31",{"date":97,"type":20},"2028-10",{"name":99,"class":75},"Tovah Burstein",{"id":101,"slug":102,"hasResults":11,"nctId":103,"briefTitle":104,"officialTitle":105,"acronym":106,"eligibilityCriteria":107,"healthyVolunteers":11,"sex":15,"minAge":49,"maxAge":4,"enrollmentInfo":108,"targetDuration":4,"studyType":52,"phases":110,"briefSummary":112,"conditions":113,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":117,"completionDateStruct":119,"leadSponsor":121,"locationsCount":39},"100513484","phase-4-denosumab-for-the-treatment-of-fibrous-dysplasiamccune-albright-syndrome-in-adults-defid-100513484","NCT05966064","DEnosumab for the Treatment of FIbrous Dysplasia\u002FMcCune-Albright Syndrome in Adults (DeFiD)","DEnosumab for the Treatment of FIbrous Dysplasia\u002FMcCune-Albright Syndrome in Adults (DeFiD): a Randomized Double-blind Placebo-controlled Trial","DeFiD","Inclusion Criteria:\n\n* Symptomatic patients with established diagnosis of FD\u002FMAS and closed growth plates(\\>18 years)\n* Pain in the region of an FD localization, not responding to adequate pain treatment and without mechanical component e.g. impending fracture\n* Pain score from FD lesion for maximum or average pain on VAS ≥ 4\n* Increased lesional activity defined as increased bone turnover markers (ALP, P1NP or CTX) or increased activity on Na\\[18F\\]-PET\u002FCT or bone scintigraphy in at least one lesion\n* Normal levels of calcium, parathyroid hormone and vitamin D (supplementation is allowed)\n* Treated hypophosphatemia (defined as \\>0.7 at two separate measures)\n* good dental health (last check within the last 12 months)\n\nExclusion Criteria:\n\n* Active pregnancy wish, pregnancy or nursing\n* Pain not related to FD\n* Uncontrolled endocrine disease\n* Untreated vitamin D deficiency, hypocalcemia or hypophosphatemia\n* Previous use of bisphosphonates or Dmab \\\u003C 6 months before inclusion ('6 months wash out')\n* Previously reported severe side effects on Dmab\n* Inability to fulfil study requirements\n* Poor untreated dental health without intention to get treatment\n* Treatment with other bone influencing drugs, such as high doses corticosteroids",{"count":109,"type":20},82,[111],"PHASE4","Fibrous Dysplasia\u002FMcCune-Albright syndrome (FD\u002FMAS) is a rare disease, consisting of the replacement of normal bone tissue with fibrous tissue. FD lesions may be isolated in one or more bones or may be associated with endocrinopathies in McCune-Albright syndrome. Bone lesions constitute of weak bone tissue, leading to higher risk of fractures, pain and decreased quality of life. There is no cure for FD lesions and current therapies failed to soothe patients' complaints or to display any effect on progression of the lesions on imaging. However, the RANKL-inhibitor Denosumab demonstrated encouraging results in mouse models and in off-label clinical use, leading to clinical, biochemical and radiographical improvements.\n\nStudy's aim is to investigate whether 3-monthly Denosumab will improve the clinical, radiological and biochemical manifestations of FD bone lesions.",[62,58],"2025-01-28",{"date":116,"type":33},"2025-01-29",{"date":118,"type":33},"2023-06-13",{"date":120,"type":20},"2028-12",{"name":122,"class":75},"Natasha Appelman-Dijkstra"]