Clinical trials: Mineralocorticoid Deficiency
Glucocorticoids Deficiency
Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation
Nicotinamide nucleotide transhydrogenase (NNT) mutations cause glucocorticoid and mineralocorticoid deficiencies through decreased detoxification of reactive oxygen species (ROS) in adrenocortical cells.
- Trial name
- NCT02838472
- Testing
- Ascorbic Acid
- Where
- Israel
- Volunteers
- 3 people
- Sponsor
- Hadassah Medical Organization
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
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…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Cushing Syndrome, Aldosteronism
China Adrenal Disease Registry
Epidemiologic studies have revealed a tremendous increase in the prevalence of adrenal associated disease and related mortality worldwide.
- Conditions
- Cushing Syndrome, Aldosteronism, Hypoadrenalism, Congenital Adrenal Hyperplasia
- Trial name
- CASE (NCT04890444)
- Where
- China
- Volunteers
- 2,000 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Disorders of Sex Development, Congenital Adrenal Hyperplasia
Gene Polymorphisms Influencing Steroid Synthesis and Action
The extend of steroid biosynthesis and action is mainly dependent on underlying genetic polymorphisms and gene mutations. These sequence variations in multiple genes involved in steroid biosynthesis and action cause different…
- Conditions
- Disorders of Sex Development, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia, Adrenal Insufficiency
- Trial name
- NCT00485186
- Volunteers
- healthy volunteers welcome
- Sponsor
- University Hospital Schleswig-Holstein
Partial Mineralocorticoid Deficiency
Impact of the Administration of Fludrocortisone in Very Premature Infants
Water and electrolytic homeostasis is remarkably controlled by the mineralocorticoid pathway (renin-angiotensin-aldosterone system acting on the renal tubule).
- Trial name
- MINIPREM (NCT03001089)
- Testing
- Oral Fludrocortisone (enteral)
- Where
- France
- Volunteers
- 66 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris