Active clinical trials for "Osteomalacia"

The purpose of this study is to assess the safety, pharmacokinetics and efficacy of KRN23 in adult Chinese patients with TIO

The researchers are trying to evaluate a newer imaging technique (Ga-DOTATATE PET/CT) to see if it is more sensitive to localize the source of the hormone, which has caused the low phosphate levels.

Neuroendocrine tumors (NETs) are rare neoplasms arising from the diffuse endocrine system and spreading throughout the different organs and tissues of the body. Tumor-induced osteomalacia (TIO) , is a rare, serious paraneoplastic syndrome primarily derived from a benign tumor of mesenchymal tissue. NETs and mesenchymal tumors are often insidious and are undetectable by conventional imaging techniques including ultrasound, computed tomography and magnetic resonance, while a permanent cure will rely on exact localization and completely removal of the tumor. Positron emission tomography (PET) provides a valuable tool for the diagnosis and differential diagnosis, staging, efficacy evaluation and recurrence monitoring of various tumors. NETs and mesenchymal tumors overexpress somatostatin receptors (SSTRs), so molecular imaging using radiolabeled somatostatin analogues may be one of the best ways to detect the occult tumors. Recently, somatostatin analogue labelled with gallium-68 (68Ga-DOTA-TATE) as a novel positron tracer has shown to be effective for the detection of NETs and mesenchymal tumors. In this prospective study, the investigators will use the most advanced imaging equipment, integrated PET/MR，and PET / CT with specific imaging agent 68Ga-DOTA-TATE and conventional imaging agent [F-18]fluorodeoxyglucose to image patients suspected or confirmed NETs and TIO, the aim is to explore the value of hybrid PET/MR and PET/CT in neuroendocrine diseases and TIO.

Evaluation of the change of serum Prolidase and Leptin values in the diagnosis and follow-up of osteomalacia and its clinical usability

This study has four objectives: 1) to provide investigators the opportunity to study bone specimens from patients with various skeletal diseases; 2) to treat patients with skeletal diseases at the NIH; 3) to expose NIH trainees to certain skeletal diseases; and 4) to gain more knowledge about skeletal diseases and stimulate further study of bone biology. Anyone with a disease that affects the skeleton may be eligible for this study. All evaluations, tests, procedures and treatments given study participants are used in the standard care of skeletal diseases. No experimental evaluations or treatments are offered. Patient evaluations include a medical history, review of medical records and routine physical examination. Based on the findings, other procedures may be recommended, including blood tests, urine tests, and imaging tests, such as X-rays, bone densitometry, bone scan, computed tomography (CT) and magnetic resonance imaging (MRI). Bone specimens from participants will be collected for research use. Specimens will be obtained from bone removed during a patient s planned surgical procedure performed for medical care, or patients may be requested to have a bone biopsy removal of a small piece of bone tissue as part of the patient evaluation procedure.

Through observation of patients with X-linked hypophosphatemic rickets/osteomalacia (XLH) for up to 10 years, the study intends to collect data that allow achievement of the following objectives: To determine medical characteristics of the disease and the disease process To determine physical and psychological burden on patients as well as economic burden To assess the efficacy and safety of the treatment of the disease

Background: Hypophosphatemia is a condition where a person has low levels of phosphorus in the blood. Low blood phosphorus can cause muscle and bone weakness (such as rickets) and teeth problems. One cause of the condition is having too much fibroblast growth factor 23 (FGF23). FGF23 is a hormone that causes the kidney to get rid of phosphorus in the urine. It can also prevent the body from making vitamin D, which helps the body absorb phosphorus in food. Many people with low blood phosphorus take high doses of phosphorus and calcium medications. However, one side effect of these drugs is increased blood levels of parathyroid hormone (PTH). The drug cinacalcet can help lower PTH levels, which may decrease the amount of phosphorus lost in the urine and increase the phosphorus levels in the blood. Researchers want to see if cinacalcet can help blood phosphorus and decrease the amount of phosphorus supplements that people need to take. Objectives: - To see if cinacalcet can be a safe and effective treatment for people with low phosphorus conditions due to high FGF23. Eligibility: - Individuals between 18 and 70 years of age who have different forms of hypophosphatemic rickets and tumor-induced hypophosphatemia Design: Participants will have up to 25 study visits over about 28 weeks. Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. Up to three more lab visits for blood and urine tests will be required before treatment. Imaging studies of the bones, spine, and kidneys will be performed. Participants will have a 3-night hospital stay to start treatment. They will take cinacalcet once a day. Treatment will be monitored with frequent blood tests and imaging studies. Participants will continue to take cinacalcet once a day for 3 weeks. They will have regular study visits to monitor the treatment. There will be up to two other overnight hospital stays (1 to 3 nights) to adjust cinacalcet doses. The dose will increase until the maximum dose is reached, or side effects develop. After the end of the cinacalcet study, participants will have several more followup visits to monitor the effects of treatment.

Background: People with tumor-induced osteomalacia (TIO) have small tumors that may cause low blood phosphorus, weak muscles, bone pain, and broken bones. The tumors may be so small they are hard to find or impossible to remove. Researchers want to test a drug that may help treat TIO. Objective: To see how the drug BGJ398 affects people with tumor-induced osteomalacia. Eligibility: People ages 18-85 who are in NIH protocol 01-D-0184 and have TIO that cannot be found or easily removed Design: At every study visit, participants will have: Medical history Physical exam Blood and urine tests Questions about their health and fatigue At the screening visit, participants will also have a heart and eye tests. They may have other tests to find their tumor. The baseline visit will be a 1-week stay in the clinic. Participants will have the regular study tests, plus: Their first dose of the study drug capsules Blood and urine collected every 2-4 hours for 24 hours. A thin plastic tube will be inserted in a vein to collect blood. Heart and kidney ultrasounds Activities that test strength 6-minute walk test Participants will take the study drug for six 1-month cycles. In each cycle, participants will: Take the study drug every day for 4 weeks. Have 1 visit. Participants will collect their urine for 24 hours and have their blood drawn. Participants will have the regular study tests and repeat some baseline tests. Have blood and urine tests at their local lab. Participants will have 1 visit at the end of the last cycle and another 3 months later....

The objectives of this observational study are to assess the long-term safety and long-term effectiveness of burosumab in patients with TIO who are being treated with burosumab as prescribed by their physician and to monitor the course of the underlying phosphaturic mesenchymal tumor (PMT) overtime in patients with TIO irrespective of their treatment status.

Before switching to the post-marketing study: To evaluate the efficacy and safety of KRN23 administered subcutaneously once every 2 weeks in children with X-linked hypophosphatemic rickets/osteomalacia(XLH). After switching to the post-marketing study: To evaluate the safety and efficacy of KRN23, which is switched from the investigational product to the post-marketing study drug, at the approved dose and dosing regimen in subjects who continue treatment