View clinical trials related to Hypophosphatemia.
Filter by:The 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.
This study will address two specific research questions simultaneously: 1. validation of the GastroIntestinal (GI) Dysfunction score (GIDS). 2. description of epidemiology, risk factors, and management of phosphate disorders. The aim is to recruit 20 ICUs and 1500 ICU patients. Sites will recruit all consecutive adult patients to a maximum of 120 patients or a maximum recruitment period of 8 weeks, whichever comes first. Daily data collection on gastrointestinal signs and symptoms as well as phosphate values and management will be collected during ICU stay for maximum of 7 days. 28 and 90 day mortality and days free of organ support will be the main outcomes. Secondary outcomes include prevalence of hypo- and hyperphosphatemia and description of their management.
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.
An 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.
Bronchiolitis is a major public health problem and the leading cause of paediatric intensive care unit admission in infants. Hypophosphatemia is common in adult intensive care units and was associated with an increase of the duration of mechanical ventilation and the length of stay. Our hypothesis is that hypophosphatemia is common in bronchiolitis and could be a marker of severity.
In this prospective longitudinal cohort study we studied the efficacy and safety of burosumab in real-clinical practice for <13- and >13-years old children affected with X-linked hypophosphatemia. 57 children with XLH were switched from conventional treatment to burosumab. After 12 months we assessed the efficacy and safety of treatment with burosumab on the whole cohort and separately on the cohort of >13-years old adolescents.
X-linked hypophosphatemia (XLH) is a rare genetic skeletal disease where increased phosphate wasting in the kidney leads to hypophosphatemia and prevents normal mineralization of bone and dentin, with osteomalacia as a principal manifestation. In previous works, the investigators have shown that adults with XLH present with more frequent and severe periodontitis than in the general population, and that vitamin D and phosphate supplementation improves their periodontal health, as it does for the osteomalacia. Their medical records also reveal that early implant failure is dramatically increased in these patients, when no supplementation is implemented, and standard surgical protocols followed. In contrast, the investigator's preliminary data showed that successful osseointegration was achieved with supplementation prior and after implant placement and extended healing time. Here, the investigators propose to assess the current recommendations for implant therapy in XLH patients, with 24 implants placed. The current recommendations consist of: 1) supplementation with vitamin D and phosphate for 3 months prior to implant placement and 6 months after; 2) implant healing time extended to 6 months. If osseointegration is achieved, prosthesis will be fabricated. Radiographic and clinical examination at 6, 12, 18 and 24 months after placement of the definitive restoration will evaluate the implant osseointegration, crestal bone level and peri-implant tissues health.
X-linked hypophosphatemia (XLH) is the most common form of heritable rickets. Current treatments include active vitamin D metabolites (e.g. calcitriol) and phosphate salts. There is no consistent weight-based dosing of calcitriol and phosphate now. The primary objective of this study is to establish the efficacy of different dose of calcitriol combined with neutral phosphate in children with XLH.
Children and adults with XLH recruited will be treated with calcitriol alone (without phosphate supplementation) for one year, during which the calcitriol dose will be escalated during the first 3 months of therapy. The investigators hypothesize that treatment of adults and children with XLH alone will improve serum phosphate levels and skeletal mineralization without causing an increase in kidney calcifications. The study will also examine if calcitriol therapy will improve growth in children.
Fibroblast froth factors (FGFs) are humoral factors identified by their ability to stimulate cell proliferation1. They play different roles in the regulation of cell proliferation, differentiation and function. Most FGF family members act as paracrine factors. But FGF19(FGF19) subfamily members, including FGF19, 21, and 23, work as endocrine factors to regulate bile acid, carbohydrate and phosphate metabolism2. Of these, FGF23 plays an important role in phosphate and bone metabolism3. FGF23 gene encodes 251 amino acids, including a 24-amino acid signal peptide4. The secreted FGF23 is a protein consisted of 227 amino acids. It works by binding to a Klotho-FGF receptor 1c (FGF1c) complex5. FGF suppresses the expression of type 2a and 2c sodium-phosphate cotransporters, which mediate phosphate reabsorption in proximal tubules.6 FGF23 decreases 25-hydroxyvitamin D-1α-hydroxylase expression and enhances 25-hydroxyvitamin D-24-hydroxylase expression6. Therefore, FGF23 reduces serum 1,25-dihydroxyvitamin D〔1,25(OH)2D〕, which stimulates intestinal calcium and phosphate absorption. FGF23 decreases serum phosphate through the above mechanisms FGF23 over-expression might result in hypophosphatemic rickets and osteomalacia. Tumor induced osteomalacia (TIO) is a paraneoplastic syndrome usually caused by benign phosphaturic mesenchymal tumors. Symptoms are nonspecific, such as general weakness, fatigue, and bone pain. Sometimes fracture may occurs. The responsible tumors are sometimes small and difficult to detect. Tumors secrete FGF23. FGF23 reduced phosphate reabsorption in the proximal tubules and decrease 1,25(OH)2D levels, which result in hypophosphatemia and then osteomalacia. The investigators would like to observe the changes of FGF23 in patients who receive operation or medical treatment and hope this will benefit future treatment.