View clinical trials related to Congenital Adrenal Hyperplasia.
Filter by:Congenital Adrenal Hyperplesia (CAH) is a group of automosal recessive disorders that develop due to a deficiency of one of the five enyzmes necessary for cortisol synthesis in the adrenal cortex. Research indicates a predisposition in children and adolescents with CAH towards adverse metabolic changes such as obesity, hypertension, insulin resistance and increased intima-media thickness. This study aims to compare the extent to which children and adolescents with CAH are effected in terms of respiratory and peripheral muscle strength, exercise capasity, physical fitness and physical activity levels compared o their matched healthy individuals.
The purpose of this Phase 2, open-label, sequential dose cohort study is to evaluate the safety, efficacy, and pharmacokinetics (PK) of CRN04894 in participants with classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency.
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.
This study will evaluate the effects of different doses of Lu AG13909 in adult participants with congenital adrenal hyperplasia, also called CAH. CAH is a rare genetic disorder that affects a person's ability to produce certain hormones. The main goals of this study are to learn about the safety and tolerability of Lu AG13909, how Lu AG13909 behaves in the body, and how the body responds to Lu AG13909.
Background: Children with congenital adrenal hyperplasia (CAH) can survive well into adulthood with proper treatment. But the change from pediatric to adult care can be challenging. Many people with CAH need extra support as they learn to take control of their own health care needs. Researchers have studied how people respond to different types of patient education. Now researchers want to find out if virtual education, via computer, is a good way to teach people how to manage CAH as they become adults. Objective: To test a virtual method of delivering patient education to adolescents and young adults with CAH. Eligibility: Adolescents and young adults aged 16 to 22 years who have CAH. They must already be enrolled in Natural History Study Protocol 06-CH-0011. Design: Participants may take part in the study remotely; they may also come to the clinic. They will have 3 visits in 1 year. Participants will complete questionnaires. Topics will include what they know about CAH; whether they remember to take their medications on their own; and whether they schedule their own appointments. They will be asked about their quality of life. They will be asked about their physical and emotional health. All participants will be taught how to care for themselves. The participants will be divided into 2 groups. Some will watch an 11-minute video on CAH that focuses on their goals as they become adults. The others will receive standard education. After 6 months, participants will receive CAH education again. After 12 months, participants will repeat the questionnaires from their first visit.
An investigation of the safety and efficacy of tildacerfont in participants with CAH.
This pre-screening study is designed to determine potential eligibility of adults with classic CAH due to 21-hydroxylase deficiency (21-OHD) for participation in the CAH-301 [NCT04783181] gene therapy trial with BBP-631.
To detect the prevalence of gonadal changes by US among the patients with CAH. - assess the patients' radiological findings in relation to their hormonal profile. - early management and prevention of complications resulting from possible gonadal dysfunction.
Epidemiologic studies have revealed a tremendous increase in the prevalence of adrenal associated disease and related mortality worldwide. In order to meet all the therapeutic challenges in adrenal disease in China, CASE was founded in 2020. The objective of CASE is to launch an adrenal disease management model based on the Internet health information platform which allows the application and evaluation of adrenal disease treatment strategies at multiple centers. The proprietary electronic medical database will help the dynamic big-data analysis in epidemiology of adrenal disease, diagnosis, and treatment.
This study is designed to evaluate the safety, tolerability, and efficacy of AAV5 based BBP-631 in adult participants diagnosed with classic congenital adrenal hyperplasia.