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Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts

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Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls

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Hereditary hypophosphatemia (XLH) is a rare, inherited disease. Loss-of-function mutation in PHEX results in excess fibroblast growth factor 23 (FGF23) production and manifests as rickets in children and osteomalacia in adults. FGF23 is a hormone that reduces renal phosphate reabsorption, decreases

The PORTRAIT Study

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Hypophosphatasia (HPP) is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene with deficiency in TNSALP activity. This leads to accumulation of inorganic pyrophosphate, a potent inhibitor of bone mineralization, which causes rickets and osteomalacia, and of pyridoxal

The Changes of Body Composition, Glucolipid Metabolism and Bone Metabolism in Obese Children After Weight Loss

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Obese children have a higher incidence of vitamin D deficiency (VDD), which resulted from unhealthy life style such as less time outdoors, more sedentary time, imbalance of dietary intake. Adipose tissue is the storage position of vitamin D, and the storage formation include 25-OHD2 and 25-OHD3.

Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

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This is a natural history study of patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). GACI is an ultra-rare disorder with an estimated birth prevalence of around 1 in 200,000. GACI is characterized by extensive arterial

Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets

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1.1 Primary Objective The effect of KRN23 treatment on normalizing age-adjusted serum phosphorous levels in a single pediatric patient with Epidermal Nevus Syndrome associated hypophosphatemic rickets 1.2 Secondary Objectives 1. The PD profile of KRN23 as assessed by changes from baseline over time

Milk Products in the Treatment of Hypophosphatemic Rickets

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Objectives: Standard treatment of hypophosphatemic rickets consists of oral phosphate tablets and vitamin D analogous. Due to their rapid absorption, serum-phosphate fluctuations can occur and secondary hyperparathyroidism may be a consequence. Our aim was to evaluate, if phosphate supplement

Biomarker for Hypophosphatasia Disease (BioHypophos)

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Hypophosphatasia (HPP) is a rare genetic disorder characterized the abnormal development of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper

Vitamin D, Iodine, and Lead Levels in Haitian Infants and Children.

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BACKGROUND: 1. Vitamin D Deficiency Vitamin D deficiency is common in the United States and worldwide, including in infants and children 1,2. Moderate to severe deficiency in children can manifest as rickets, a skeletal disease which results from a failure of mineralization of developing bones and

Vitamin D and the Free Hormone Hypothesis

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Introduction: Vitamin D is a versatile signaling molecule with a well-established role in the regulation of calcium homeostasis and bone health. The spectrum of vitamin D target-organs has expanded and it has been suggested that vitamin D influences the immune system, endocrine organs such as

Natural History Study of Patients With Hypophosphatasia (HPP)

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Inheritance can be autosomal recessive or dominant, and penetrance is variable resulting in a wide range of clinical expressivity, with a spectrum ranging from stillbirth without mineralized bone to early loss of teeth without bone symptoms. Depending on the age at diagnosis six clinical forms are

Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)

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OBJECTIVES: The primary objective of this protocol is to evaluate the tolerability of cinacalcet in individuals with fibroblast growth factor 23 (FGF23)-mediated hypophosphatemia, using an open-label, dose-titration study of once-daily dosing. Secondary objectives are to evaluate the

Comparing Different Amounts of Vitamin D Supplementation to Preschool Children Living in Northern and Southern Sweden

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Vitamin D has a range of biological effects of public health relevance (Prentice et al, 2008). Besides its well known role in mineralization of bone and teeth, vitamin D also play important roles in metabolic functions, the pathogenesis of certain diseases, e.g. type 1 diabetes, celiac disease,

Utility of a Urine Screening Tool for Vitamin D Deficiency in Infants and Toddlers

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Background: Insufficient circulating levels of vitamin D is a common problem in both developed and developing countries; it is estimated that over one billion people have vitamin D deficiency at this time. In children, vitamin D deficiency leads to nutritional rickets, which is considered the most

Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP)

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Hypophosphatasia (HPP) is a rare inherited form of rickets and osteomalacia caused by inactivating mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). The prevalence of the disease is thought to be about 1:100,000 although it is markedly higher in a

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