Congenital Adrenal Hyperplasia Clinical Trials

The CAHlibrate Pediatric Study is a clinical research study currently enrolling children with congenital adrenal hyperplasia (CAH). The primary objective of this study is to assess the safety and tolerability of repeated doses of the investigational medication in child participants with CAH.  Qualifying participants must be between the ages of ...

Congenital adrenal hyperplasia (CAH) is an inherited inability to synthesize cortisol in the adrenal gland. More than 90% of cases are cause by deficiency of steroid 21-hydroxylase (CYP21, also termed CYP21A2, P450c21), which is a cytochrome P450 enzyme located in the endoplasmic reticulum. It catalyzes conversion of 17-hydroxyprogesterone (17-OHP) to ...

Microdialysis fluid will be collected from all participants using the ULTRADIAN dynamic diagnostics system. This is a 3-component collection system which can easily be attached to a belt and allows participants to continue with their normal everyday activities whilst undergoing sampling. The micro-fractions are minute, the volume would normally be ...

The classic form of 21-hydroxylase deficiency (prevalence 1/15,000) is the most common cause of congenital adrenal hyperplasia (CAH). This autosomic recessive disease is responsible for virilization of the external genitalia in girls through androgen hypersecretion during fetal life. Since 1984, the Lyon Pediatric Endocrinology group has proposed prenatal dexamethasone (DEX) ...

The conventional glucocorticoid replacement therapy in primary adrenal insufficiency (Addison's disease) and congenital adrenal hyperplasia renders the cortisol levels unphysiological, which may cause symptoms and long-term complications. This therapeutical approach does not enable to restore physiological circadian and ultradian rhythm of glucocorticoids. Current studies conclude that constant or unphysiological administration ...

CAH patients are treated with glucocorticoids and mineralocorticoids. Ideally, the glucocorticoid doses should be sufficient to suppress the elevated ACTH secretion, and hence attenuate the increase in androgen levels. Because of this, CAH patients use higher steroid doses than patients with autoimmune adrenal insufficiency (Addison's disease) and therefore are in ...

Congenital Adrenal Hyperplasia (CAH) is a genetic rare disease, which alters the adrenal production of gluco and mineralo corticods. The treatment consists in supplementing children with hydrocortisone. Despite care for these children has improved substantially across decades, short adult height (AH) still remains an important consequence of the disease. About ...

Congenital adrenal hyperplasia (CAH) results from a deficiency of a key enzyme in the biosynthesis of cortisol, mainly 21-hydroxylase, resulting in its classic form a neonatal salt loss syndrome and / or a virilization syndrome in girls. The treatment of the disorder in adulthood involves administering steroidal compounds with the ...

Because of the excess of androgen caused by 21-OHD CAH, women with CAH may exhibit some male-like characteristics. Glucocorticoids are a member of a class of drugs called corticosteroids, which are used in hormone replacement therapy. In order to counteract the effects of 21-OHD CAH, women with the disease are ...

CAH is a genetic steroidogenesis disorder. The most common form, 21OHD, leads to cortisol deficiency and, in turn, an excess of androgen, a hormone that promotes the development and maintenance of male sex characteristics. As a result of this androgen excess, prepubescent males and newborn, prepubescent, and grown females exhibit ...