National Registry of Rare Kidney Diseases
Adenine Phosphoribosyltransferase DeficiencyAH Amyloidosis85 moreThe goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.
The Impact of Phosphate Metabolism on Healthy Aging
HypophosphatemiaRickets3 moreDetermine the association between duration and dose of chronic conventional therapy with Pi and renal (nephrocalcinosis/nephrolithiasis), vascular (endothelial function), and cardiovascular function (echo- cardiography) in patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and patients with X-linked hypophosphatemia (XLH).
Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia : a RCT
X-linked Hypophosphatemia (XLH)This study is a prospective, randomized, single-blind, split-mouth, national multicenter trial, comparing the efficacy of a self-etch adhesive system combined (SAM) with a flowable composite to that of a fluoride varnish for the prevention of spontaneous dental abscesses in children with XLH. For each patient, according to randomization, one side of the oral cavity is treated with the experimental treatment (application of the adhesive system to healthy anterior and posterior temporary teeth, and application of the flowable composite to healthy posterior temporary teeth), and the other side with the active comparator (fluoride varnish). The application process for both treatments is similar and will be renewed every 6 months (visits at 6, 12, 18 and 24 months) systematically for the SAM and the varnish, and in case of partial or total loss of the composite.
A Study to Describe the Lived Experience of XLH for Adolescents at End of Skeletal Growth
X-Linked HypophosphatemiaAn observational, prospective, mixed-methods study involving the integration of quantitative and qualitative data exploring the lived experience of burosumab-treated adolescents with XLH at the end of skeletal growth.
Registry for Patients With X-Linked Hypophosphatemia
X-Linked HypophosphatemiaThis is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH). The main objective of this XLH Registry is to collect data to characterise the treatment, progression and long-term outcomes of XLH in both adult and paediatric settings.
Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia...
X-Linked HypophosphatemiaThrough 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
Using Cinacalcet to Treat the Hypophosphatemia of Early Kidney Transplant
HypophosphatemiaRenal TransplantThe purpose of the study is to determine whether cinacalcet, used in patients with secondary hyperparathyroidism to control excessive parathyroid hormone, can normalize low blood phosphorus that is commonly seen in patients who have had a kidney transplant.
X-linked Hypophosphatemia Disease Monitoring Program
X-linked HypophosphatemiaHypophosphatemic RicketsThe objectives of this observational study are to characterize XLH disease presentation and progression and to assess long-term effectiveness and safety of burosumab.
Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)...
OsteomalaciaBackground: 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.
A Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside...
IBDTreatment with iron isomaltoside and ferric carboxymaltose in subjects with iron deficiency anaemia due to inflammatory bowel disease and comparison of the incidence of hypophosphatemia