View clinical trials related to Adrenogenital Syndrome.
Filter by:This phase III study is an open-label extension study to be conducted at approximately 21 investigational sites across 3 countries. The study will evaluate the long-term safety and tolerability of Chronocort in participants aged 16 years and over when used as treatment for Congenital Adrenal Hyperplasia (CAH).
The most common two subtypes of primary aldosteronism (PA ) are aldosterone producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (IHA). Mineralocorticoid receptor (MR) antagonists is the main treatment for bilateral IHA, because of its side effects, the treatment compliance of those patients is poor. Hence, an alternative therapy is needed in such cases. We hypothesized that superselective adrenal artery embolization (SAAE) could be a suitable alternative approach. To our knowledge, SAAE has so far not been applied to treat bilateral IHA. This study aimed to evaluate the efficacy and safety of SAAE in the treatment of PA patients with bilateral IHA.
Individuals with CAH produce lower levels of epinephrine (adrenalin) than controls. This can be correlated to the CYP21A2 genotype and is most pronounced in the classic forms. Individuals with CAH have an increased risk of developing hypoglycemia because both cortisol and epinephrine are important counter regulatory hormones. Stress dosing is essential in situations of increased physical stress such as infections with fever for example. Glucocorticoid treatment and stress dosing cannot compensate fully during physical stress neither for the reaction to psychological stress. This may render various types of difficulties in the individual's life. We aim to investigate if the deficient epinephrine production can be confirmed and if it is related to the increased level of anxiety and vulnerability to stress that we observe in the patients. Specific aims of the study: - Analyse the epinephrine/adrenalin production in patients with CAH using measurements of epinephrine and metanephrine in blood, during an exercise test - Assess stress vulnerability and anxiety using validated questionnaires - Correlate the results to severity of disease, CYP21A2 genotype - Investigate if psychological and somatic stress symptoms are related to the epinephrine production capacity.
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.