View clinical trials related to Rickets.
Filter by:X-linked hypophosphataemia (XLH) is a rare genetic disorder associated with increased circulating levels of the hormone FGF23, most commonly through mutation of the PHEX gene. XLH is associated with a wide range of clinical manifestations in children and adults, all of which can impact on their health-related quality of life. Conventional treatment (or standard of care, SOC) consists of phosphate supplementation and active vitamin D analogues. The management of patients with XLH has been modified in France since 2018 with the authorisation of the anti-FGF23 antibody, burosumab, in paediatrics (and in 2020 in adults). A propensity for overweight/obesity has recently been demonstrated in these patients. Could extra-skeletal effects of FGF23, in particular on the inflammatory profile of patients, be responsible for these manifestations? Obesity has been associated with inflammation in other populations. In terms of inflammation, there is a close link between FGF23 and inflammation: inflammatory cytokines increase the production of FGF23, which in turn increases inflammation by stimulating the production of inflammatory cytokines. Osteoclastogenesis and inflammation are linked and inflammation has been shown to increase bone resorption. In a recent study, the investigators showed that osteoclastogenesis was significantly impaired in cells obtained from XLH patients compared with control patients, and that osteoclasts obtained from XLH children showed higher gene expression of inflammatory markers than controls. Interestingly, no difference was observed in circulating monocytic cells between the two patient subgroups, conservative treatment and burosumab, whereas the inflammatory profile at the end of osteoclastic differentiation was reduced in cells derived from patients receiving burosumab. The aim of this study is therefore to investigate the inflammatory profile of circulating monocytic cells on the day of burosumab injection (D0) and seven days later (peak effect of anti-FGF23).
Hypovitaminosis D is common in the adult population, it affects at least 1 billion people worldwide, and in particular 80% of the French population according to the National Institute for Public Health Surveillance. Hypovitaminosis D is accompanied or complicated by deleterious health manifestations such as bone, immune and cancer diseases, neuromuscular disorders and a propensity to fall, for example. Hypovitaminosis D has also been associated with more complicated care pathways (increase in the severity of the reason for hospitalization, length of hospitalization, risk of in-hospital death). Prevention of these clinical events depends on correcting vitamin D status. In sick, dependent or fragile adults, natural intakes are generally insufficient. It is indeed accepted that hypovitaminosis D may not be treated effectively by dietary measures or by simple exposure to the sun in French latitudes. Drug supplementation is therefore necessary, with the objective of achieving a target concentration of circulating 25-hydroxyvitamin D (25 (OH) D) of 75 nmol / L (30 ng / mL) in this population. Vitamin D supplementation, when properly conducted, corrects hypovitaminosis D, and has been associated with improved prognosis, especially life-saving, in therapeutic trials versus placebo. Such results lead the investigators to suggest that the identification and correction of hypovitaminosis D in hospitalized patients could represent a simple, effective and inexpensive strategy for improving hospital care pathways. In this perspective, the first step is to determine the prevalence, severity and clinical profile of hospitalized patients with hypovitaminosis D, as well as their course of care. To the investigators knowledge, there are no large-scale studies based on real-life data on this subject.
The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency (including Generalized Arterial Calcification of Infancy Type 1 [GACI] and Autosomal Recessive Hypophosphatemic Rickets Type 2 [ARHR2]) and the early-onset form of ABCC6 Deficiency (Generalized Arterial Calcification of Infancy Type 2 [GACI-2]) longitudinally.
The purpose of this study is to evaluate the effect of vitamin D supplementation on the pain score of primary dysmenorrhea. Our hypothesis is that by normalizing vitamin D level could help improve pain score of women who have primary dysmenorrhea.