View clinical trials related to Fibrous Dysplasia of Bone.
Filter by:This study will be conducted on patients with monostotic unilateral craniofacial fibrous dysplasia affecting zone I (fronto-orbital, zygomatic, and upper maxillary regions). Computer guided shaving will be performed for all the patients, and the accuracy of this procedure will be assessed.
Fibrous dysplasia of bone is a rare congenital but non-hereditary disease caused by a post-zygotic activation mutation of the GNAS gene. Patients with fibrous dysplasia may present pain and bone complications (fractures, deformities..) related to their bone lesions. For undetermined reasons, severity and disease evolution may vary considerably from patient to patient. Epigenetic regulation could then be involved, including micro Ribonucleic Acids (miRs). These small non-coding micro Ribonucleic Acids are involved in the regulation of major steps of cellular processes in different pathologies, in particular in bone diseases. However, micro Ribonucleic Acids have never been studied in fibrous dysplasia. The aim of this study is to identify micro Ribonucleic Acids significantly associated with the severity of fibrous dysplasia.
Objectives: The primary objective of this study is to evaluate the effect of denosumab on bone turnover in individuals with fibrous dysplasia (FD). Secondary objectives are to determine the effect of denosumab on bone pain, FD lesion intensity as revealed in 18F-sodium fluoride PET/CT bone scan, and to determine the effect of denosumab discontinuation on bone turnover re-bound after discontinuation. Study Population: Up to 14 adult subjects with FD may be enrolled to ensure complete study data on 9 subjects. Design: This study is a single center, open label pilot study of once-monthly dosing of denosumab. Subjects will be treated for 6 months, after which they will be followed by an 8-month observation period. A final visit will occur 21 months after denosumab discontinuation. Dosing will be adopted from studies in adults on treatment for giant cell tumors, with denosumab administered at 120 mg per dose every 4 weeks, with loading doses on days 7 and 14 of month 1. Outcome Measures: Primary: Assessment of the effects of denosumab on: 1. Markers of bone turnover: Beta-crosslaps C-telopeptides (bone resorption marker) Procollagen-1-propeptide (bone formation marker) Secondary: Assessment of the effects of denosumab on: 1. Bone histomorphometric indices: Mineralized perimeter Bone formation rate Cortical width Cortical area Osteoid width Osteoid perimeter Mineral apposition rate 2. Surrogate markers of a direct therapeutic effect of denosumab on FD lesions: Semi-quantitative changes in RANKL, Ki67 (marker of cell proliferation), p16 (marker of cell senescence), and/or apoptosis index before and after treatment, as assessed by immunohistochemistry Changes in sentinel lesion intensity, measured quantitatively by uptake on 18Fsodium fluoride PET/CT bone scan. 3. FD-related bone pain assessed by the Brief Pain Inventory (Short Form) , a validated self-reporting tool for assessment of pain. Exploratory Endpoints: 1. Effect of denosumab initiation and discontinuation on Serum calcium, phosphorus and parathyroid hormone Serum RANKL and osteoprotegerin (OPG), and RANKL/OPG levels 2. Effect of denosumab discontinuation, as measured by the following outcomes: Biochemical markers of bone metabolism: beta-crosslaps C-telopeptides, procollagen-1 propeptide, bone specific alkaline phosphatase, osteocalcin, NTX-telopeptides 3. Effect measured by change in other outcome measures, such as: Bone density assessed by DXA Physical Medicine and Rehabilitation evaluation
The investigators' objective is to understand the pathogenesis of diabetes mellitus in Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) by: 1) establishing the contributions of insulin resistance versus impaired insulin secretion, 2) investigating presence of excess glucagon signaling by measuring gluconeogenesis and glycogenolysis, and 3) investigating a potential interaction between diabetes and intraductal papillary mucinous neoplasms (IPMNs).
The FD/MAS 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/MAS by completing questionnaires about their lives with FD or MAS. Have you enrolled in the FD/MAS 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! The FD/MAS Patient Registry: Your story powers research.
Fibrous dysplasia is a rare bone disease which can cause pain and fractures. It has been shown that periostin is over expressed in fibrous component in patients bones ; but periostin has never been measured out in serum of patients, although it is easy to assess. This study aims to show whether serum periostin is elevated in serum of patients with fibrous dysplasia, and if it is more elevated in patients with severe forms of the disease.
Bone pain due to fibrous dysplasia of bone is usually treated with bisphosphonates. A small proportion of patients fail to respond adequately. Mutated bone cells produce large amounts of Interleukin-6 (IL-6), with increased bone resorption as a result. Inhibition of IL-6 may be of interest to reduce bone resorption and therefore bone pain. TOCIDYS is a placebo-controlled randomized cross-over trial to test the hypothesis that tocilizumab can reduce bone resorption in those patients with fibrous dysplasia who have already received bisphosphonates.
This trial is intended to test the efficacy of an oral bisphosphonate (risedronate) to decrease bone pain and improve radiological aspect in fibrous dysplasia of bone.
This study will examine the effect of pegvisomant on growth hormone excess in patients with McCune-Albright syndrome (MAS). Patients with this disease have polyostotic fibrous dysplasia-a condition in which areas of normal bone are replaced with fibrous growth similar to scar tissue, abnormal skin pigmentation (birth marks) and precocious (early) puberty. About 10 percent of patients have excess growth hormone (GH). GH stimulates the production of another hormone called insulin-like growth factor 1 (IGF-1). Together, GH and IGF-1 affect bone growth. The excess of these hormones in MAS can cause overgrowth of the bones of the face, hands and feet, excess sweating, or increased height. Pegvisomant is a synthetic drug that binds to cell receptors where GH would normally bind, thus preventing the naturally occurring hormone from stimulating IGF-1 and bone growth as it normally would. This study will see if pegvisomant will reduce blood levels of IGF-1 and mitigate the effects of growth hormone excess, including bone pain, bone turnover, hand and foot swelling and sweating, and abnormal levels of related hormones. Patients who were screened for polyostotic fibrous dysplasia and MAS under NIH protocol 98-D-0145 and were found to have MAS with excess growth hormone are eligible for this 36-week study. The screening protocol includes a history and physical examination, blood and urine tests, hearing, eye and dental examinations, pain and physical function evaluations, endocrine and bone screening tests, various bone imaging studies, including magnetic resonance imaging (MRI) and computed tomography (CT) scans and bone biopsy in patients over 6 years old. Participants in the current study will receive daily injections of either pegvisomant or placebo (an inactive substance) for 12 weeks, followed by a 6-week "washout" period with no drug. Then, patients who received placebo will be switched, or "crossed over," to receive pegvisomant for another 12 weeks, and those who received pegvisomant will receive placebo. This will be followed by another 6-week washout period. The drug and placebo will be injected under the skin, similar to insulin injections. Blood and urine tests will be done at the beginning of the study and repeated every 6 weeks until the study ends.
This study will test the safety and effectiveness of letrozole in treating precocious (early) puberty in girls with McCune-Albright syndrome (MAS). The physical changes of puberty, such as breast enlargement, menstruation and growth spurt, as well as the emotional changes of this developmental stage, usually begin in girls between the ages of 8 and 14. Girls with MAS, however, often begin puberty before age 7. In MAS, large ovarian cysts produce high levels of estrogens (female hormones) that cause the changes of puberty. Children with MAS also have polyostotic fibrous dysplasia (PFD), a disease of bones that, depending on what parts of the skeleton are affected, can lead to broken bones or disfigurement of the head, face, arms and legs, or can cause pressure on nerves and blood vessels. Many children with MAS have cafe-au-lait spots (increased pigmentation) on areas of their skin as well. Letrozole is an estrogen-lowering drug that has been approved for treating women with breast and other cancers. Although the drug has not been tested or approved for use in children, some pediatric specialists have given it to girls with precocious puberty and MAS and found that it improves their condition without harmful side effects. This study will examine whether letrozole can lower estrogen in girls with MAS and arrest puberty. It will also study the drug's effects on substances involved in bone growth, including calcium, phosphate and amino acids. Girls 1 to 8 years old with MAS may be eligible for this study. Patients who were enrolled in NIH protocol 98-D-0145 (Screening and Natural History of Patients with Polyostotic Fibrous Dysplasia and the McCune-Albright syndrome) are also eligible. Participants will be admitted to the hospital for 2 to 3 days every 3 months for 15 months, for a total of 6 visits. They will undergo a complete history and physical examination and routine blood and urine tests every visit, as well as evaluations of their general health, growth and bone development, endocrine system (hormone-secreting glands) status and PFD status. A hand X-ray will be taken at the first visit and every 6 months to measure bone age advance. The children will begin taking letrozole at the second visit and continue the drug for 6 months. They will be evaluated after 3 months and 6 months on the drug (visits 3 and 4), and again after 3 months and 6 months after stopping treatment (visits 5 and 6). Parents of children who weigh more than 18 kilograms (about 40 pounds) may be asked if extra blood may be drawn after 3 months (visit 3) and 6 months (visit 4) of treatment to measure letrozole levels. The blood will be drawn before the morning dose and at 0.5, 1, 1.5, 2, 3, 4, 6, 8, and 24 hours after the dose through an indwelling needle placed in the vein for 8 to 24 hours. Parents will keep a record of all episodes of menstrual bleeding and any other symptoms or complaints. Children who respond well to therapy (decreased menses, slowed breast development, slowed growth and bone age advance) will be offered another 12 months of letrozole treatment.