Active clinical trials for "Bone Diseases"

This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time. It will investigate whether specific gene changes cause specific medical problems in these disorders and identify the signs and symptoms upon which their diagnoses must be based. Individuals with short stature or with a skeletal dysplasia known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate. Skeletal dysplasias under study include: achondroplasia, hypochondroplasia, achondrogenesis type II, hypochondrogenesis, Kniest dysplasia, spondyloepiphyseal dysplasias, Stickler syndrome; Shmid and Jansen metaphyseal dysplasias; pyknodysotosis, proximal symphalangism, brachydactyly types B C and E, Ellis van Creveld and related disorders, metatrophic chondrodysplasias, cartilage-hair hypoplasia and disorders with a skeletal abnormality that have not yet been defined but might be the result of a genetic defect. Patients will talk with two genetics specialists who will explain the study and its possible implications for the patient and family and answer questions. The patient's medical records will be reviewed, a personal and family history will be taken, and a physical examination will be done. Various other procedures that may be done include drawing up to 6 tablespoons of blood, some of which will be used for DNA (genetic) studies, X-rays, echocardiography (ultrasound of the heart), magnetic resonance imaging (MRI), eye examination, hearing test, sleep study, sperm analysis and skin biopsy (surgical removal of a small piece of skin done under local anesthetic). There may be additional evaluations by specialists in rheumatology, rehabilitation medicine and orthopedics. When the tests and examinations are completed (after 2 to 3 days), a doctor will discuss the results with the patient. Patients whose DNA studies show that a gene change is responsible for their disorder will meet with a genetics nurse or counselor to review the results, express their feelings and ask any questions they may have. Patients may be asked to return to NIH every 6 months to 2 years for continued follow-up. Medical management will be provided primarily by the patient's own physician. Participating family members will be interviewed by telephone about their personal and family health history and will have a blood sample drawn for DNA testing. If a gene change is found that is responsible for the bone disorder or growth problem in the family, arrangements will be made for the family member to discuss the implications of the findings with a genetics specialist.

Deficient or inappropriate healing of bone impacts clinical decision-making and treatment options in orthopedics, oral and maxillofacial surgery, plastic surgery and periodontics. While a number of auto- and allografting techniques have been used to regenerate craniofacial defects caused by infective, neoplastic or trauma-induced bone loss, each method has significant limitations. Our research group in the Craniofacial and Skeletal Diseases Branch of NIDCR has developed methods to culture and expand cell populations derived from mouse bone marrow stroma. We believe that an important next step is to apply the information gained in animal studies to treat osseous defects in humans. We propose to examine the potential of cultured human bone marrow stromal cells to serve as an abundant source of osteoblastic progenitor cells. These cells will ultimately be used to graft craniofacial osseous defects. In the course of this study we will: (1) develop methods for the propagation and enrichment of osteoblastic progenitor cells from bone marrow stroma; (2) test various vehicles for the transfer of bone marrow stromal cells to osseous defects in recipient animals; (3) determine optimal culturing and transplantation conditions for the eventual transplantation of bone marrow stromal cells into human recipients. These studies will define the parameters of bone marrow stromal cell transplantation and will generate models for future therapeutic strategies.

Methods of diagnostic and treatment of hormonal disorders in patients with chronic kidney disease (CKD) will be developed and implemented in real clinical practice. As a result of the project, new scientific data will be obtained on the relationship of hyperprolactinemia and impaired functioning of the pituitary-gonadal axis, changes in functioning of the renin-angiotensin-aldosterone system will be revealed, and the characteristics of the thyroid and parathyroid status in patients with CKD will be determined, including receiving renal replacement therapy (RRT) and after kidney transplantation, which will improve the efficiency of diagnosis and treatment of hormonal disorders in the early stages of the disease, reduce the direct financial costs of the diagnostic and treatment process primarily due to the optimization of hormonal studies and treatment of the revealed disorders, as well as will prevent the progression of CKD and the severity of the condition of this category of patients due to the development of hormonal dysfunctions.

The incidence of postoperative PJI is ranging from 0.5-2.5% for primary interventions and are reported up to 20% for revision procedure. In addition, hematogenous PJI can occur at any time after implantation and the risk of infection remains during the entire prosthesis indwelling time. Prosthetic joint infections (PJI) are associated with significant morbidity and costs to the healthcare system. Evidence for optimal management of PJI with best outcome and lowest expenses is limited and recommendations between countries vary significantly. There is unmet need to standardized diagnostic procedures and definition of infection as well as achieve a consensus for uniform treatment guidelines.The European Implant Cohort Study (EICS) is a multicenter European research project, including patients with PJI in a cohort representative for Europe. The EICS is established jointly by the Orthopedic and Traumatology surgeons, Infectious Diseases specialists and microbiologists of selected university and non-university institutions across Europe. The principal aim of the EICS is to improve the management of PJI and develop consensus guidelines across Europe. By systematic analysis of consecutively included patients with PJI, factors associated with best outcome regarding infection (assessed by the infection-free interval) and joint function (assessed by the degree of pain, mobility, range of motion) will be determined in a longitudinal prospective study with long-term follow-up. This is an investigator-initiated, open, prospective, multicenter observational study. Participating study centers will be university or non-university hospitals across Europe, which fulfill the following study conditions: Close collaboration between infectious diseases specialists, microbiologists and orthopedic/trauma surgeons, Availability of appropriate microbiological methods (following standard recommendations including sonication of removed prosthesis), Availability a dedicated study team (study nurse and/or research fellow) for regular eligibility screenings, patient inclusion procedure, real-time data collection and patient follow-up. This project may generate important scientific evidence for future guidelines regarding management of PJI, has the potential to initiate new multicenter substudies in an establish network, and may open further collaboration and exchange of skills between institutions across Europe.

Physical activity is a key stimulus for bone metabolism through both direct mechanisms (e.g., as a result of the applied load and/or impact) and indirect mechanisms (e.g., the activation of several metabolic pathways and the production of several mediators and effectors that have systemic effects). However, different kinds of physical activity exert different effects on bone and endocrine system. Aim of the study is to investigate the effects of different kinds of physical activity on bone metabolism and on the relationships existing between bone metabolism, energy metabolism, hormone profile, and organ functionality.

Tenofovir alafenamide (TAF), active against both HIV and HBV, demonstrates similar antiviral efficacy but improved renal and bone safety compared to tenofovir disoproxil fumarate (TDF) in HIV-1-infected patients. HIV-1-infected patients whose estimated glomerular filtration rate (eGFR) between 30-69 mL/min were shown to have minimal change in eGFR and improved proteinuria, albuminuria, and bone mineral density after switching to a single-tablet regimen containing Elvitegravir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (EVG/cob/FTC/TAF). For treatment of chronic HBV infection, a similar proportion of HBV-monoinfected patients who received TAF and those who received TDF achieved undetectable HBV DNA at 48 weeks of therapy. Although TAF is effective for HIV and HBV suppression, data on efficacy of TAF are limited among patients co-infected with both viruses. Currently, only one open-label, single-arm study had investigated the efficacy and safety of TAF in HIV/HBV-coinfected patients. In this study, 72 HIV/HBV-coinfected patients switching to EVG/cob/FTC/TAF were enrolled, and 91.7% of them maintained or achieved virologic suppression for both HIV and HBV at 48 weeks of therapy. Seroconversion occurred in 2.9% of HBsAg-positive participants and in 3.3% of HBeAg-positive participants. Improvements in eGFR and declines in markers of bone turnover of the participants were observed. The limitations of the above study are the small sample size. Taiwan is a country hyperendemic for HBV infection, with 19.8% of HIV-positive patients who were born before the implementation of nationwide neonatal vaccination in 1986 had concurrent chronic HBV infection. To further the understanding of the difference between TAF- and TDF-containing combination antiretroviral therapy among HIV/HBV-coinfected patients, the investigators plan to conduct an observational study to evaluate the efficacy and safety of EVG/cob/FTC/TAF as maintenance treatment of HIV/HBV-coinfected patients.

The purpose of this study is to evaluate the effect of vigorous physical activity versus extremely sedentary life style during young age on the bone mineral density and general health in later life.

Objective: To define a reference-population of healthy young men (20-29 years old). To establish reference-intervals for: Total, bioavailable and free serum androgens (testosterone, dihydrotestosterone, androstenedione) and serum estrogens (estradiol, estrone). Total and free IGF-1. To study the influence of physical activity, alcohol intake, tobacco and abuse of anabolic steroids on serum levels of androgens. To identify the androgens (or estrogens) that primarily reflect the following parameters: Muscle mass, muscle strength, muscle power, oxygen uptake, and hematocrit. Bone mineral density and bone metabolism. Total and visceral fat mass. Lipid- and glucose metabolism and glucocorticoid metabolism. Sexual function and quality of life. To study the modifying effect of birth weight, the AR gene CAG-repeat polymorphism, and the level of IGF-1 on associations between serum androgens and the measures above: Ethics, design and schedule: The local ethic review board approved a population-based, cross-sectional study planned for the inclusion of 800 Caucasian men, 20 to 29 year old, living in the County of Funen. The only exclusion criteria were opioid drug addiction, cancer, and severe chronic disease. A basic questionnaire was mailed to 3000 men, randomly drawn from the Danish Central Personal Registry. Adequately answered questionnaires were returned from 2,199 men, who subsequently received an invitation to participate. Informed consent was obtained from 783 men. The examinations started in March 2002 and terminated in May 2003. Within subject variation was determined for all study parameters in 20 men. The men included matched the men answering the questionnaire on all questionnaire items and demographics. All analyses have been performed, except for the additional serum sex hormone assays, IGF-1 assays and AR gene analyses. A sequential rule-out from the reference population was performed on the following criteria: testicular pathology: bilateral cryptorchidism, varicocele, testes volumina < 10 ml (each), history of spermatic cord torsion. severe chronic disease. regular medication or abuse of anabolic steroids. body mass index < 19 kg/m2. safety serum parameters: luteinizing hormone (LH) <1.0 U/L or >8.4 U/l, alanine-amino-transferase (ALAT) >70 U/l and thyrotropin (TSH) >6.0 mU/l.

CPC REGISTRY is a multi-center, international, prospective, open-label, observational study on the use of injectable calcium phosphate cements for the treatment of bone defects in adults. All patients will be treated with any of the two injectable calcium phosphate bone substitutes (GRAFTYS®HBS/GRAFTYS®Quickset or their private labels) according to standard clinical practice and according to the information provided by GRAFTYS manufacturer in respective device Instructions For Use (IFU).

Bone disorder is a significant problem in chronic kidney disease (CKD), becoming almost universal in stage 5 CKD patients. Besides the healthcare costs, bone disorder is associated with life-threatening complications, including fractures and cardiovascular (CV) events. Kidney transplantation provides circa 68% decrease in mortality and improves co-morbidity. Still, bone disease persists after transplantation. The investigators hypothesize that bone-derived hormones can induce CV events in kidney transplanted patients. Therefore, early evaluation of the bone health is recommended, and prevention of its complications is required. Bone biopsy, an invasive and expensive method, is the gold standard for bone disorders diagnosis. Therefore, non-invasive predictors for bone disease are necessary. Classical biochemical markers of bone formation and resorption have shown a low sensitivity and low specificity. New markers, as fibroblast growth factor 23 (FGF23), and its cofactor klotho, and sclerostin are promising new markers for predicting CKD-associated bone and CV disease after transplantation. This study assesses the phenotype of bone disease after transplantation (given by bone histology) and its correlation with serum FGF23, klotho and sclerostin, in order to evaluate its performance predicting CKD-associated bone and CV disease.