Clinical trials: DSD, open to volunteers
Mild Autonomous Cortisol Secretion, Autonomous Cortisol Secretion (ACS)
Impact of 1 mg Osilodrostat Therapy on Mild Autonomous Cortisol Secretion (MACS)
The purpose of this study is to evaluate the safety and tolerability of 1 mg osilodrostat therapy in patients with mild autonomous cortisol secretion (MACS), and to determine the impact on 24h urine steroid metabolome and…
- Trial name
- NCT07104812
- Testing
- Osilodrostat 1 MG
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Mayo Clinic
Turner Syndrome
Parental Project Amongst 93 Patients With Turner Syndrome
The aim is to describe the parental project, spontaneous pregnancies and pregnancies resulting from egg donation or adoption in women diagnosed with Turner syndrome treated at Strasbourg University Hospitals.
- Trial name
- TURNER (NCT07344012)
- Where
- France
- Volunteers
- 93 people
- Sponsor
- University Hospital, Strasbourg, France
Congenital Adrenal Hyperplasia, Adrenal Insufficiency
Evaluation of Circadian Hormonal Balance: LC-MS/MS Measurement of Salivary and Serum Steroids in Patients With Congenital Adrenal Hyperplasia
In congenital adrenal hyperplasia (CAH), lifelong hormone replacement therapy is required to treat adrenal insufficiency and to reduce elevated androgen levels. This is essential to ensure "normal" growth and puberty.
- Conditions
- Congenital Adrenal Hyperplasia, Adrenal Insufficiency, Hyperandrogenism; 21-hydroxylase Deficiency
- Trial name
- MASSALIVE (NCT07718230)
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Congenital Adrenal Hyperplasia (CAH)
Fertility And Sexual Function In CAH: CALLIOPE
This is a multicenter study designed to assess the effects of groundbreaking CAH therapies on a spectrum of clinical and biochemical outcomes, with a special emphasis on reproductive and sexual health.
- Trial name
- CALLIOPE (NCT07099456)
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- University of Roma La Sapienza
Cushing s Syndrome, Cushing Disease
Adrenal Diseases in the Population of Modena: A Clinical-Epidemiological Database of Patients Referred to the Adrenal Disorders Outpatient Clinic of the Clinical Unit of Endocrinology at the Modena University Hospital (AOU Modena)
Primary Objective: The primary objective of the study is to characterize subjects affected by adrenal disease by collecting medical history data at diagnosis, clinical, bio-humoral, and radiological data, as well as information…
- Conditions
- Cushing s Syndrome, Cushing Disease, Cushing Disease Due to Increased ACTH Secretion, Mild Autonomous Cortisol Secretion (MACS)
- Trial name
- ADRENALINK (NCT07920198)
- Where
- Italy
- Volunteers
- 2,000 people
- Sponsor
- Azienda Ospedaliero-Universitaria di Modena
Sensorineural Hearing Loss, Turner Syndrome
Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome
The goal of this case-control study is to pave the way for new revolutionary treatment measures within hearing loss that could either replace or delay the need for hearing aids.
- Conditions
- Sensorineural Hearing Loss, Turner Syndrome, Inner Ear Disease
- Trial name
- EPIHEAR (NCT06507007)
- Where
- Denmark
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Gødstrup Hospital
Down Syndrome, Turner Syndrome
Hematological Profile in Children With Numerical Chromosomal Disorders
This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of…
- Conditions
- Down Syndrome, Turner Syndrome, Klinefelter Syndrome, Trisomy 18
- Trial name
- NCT07807540
- Volunteers
- 158 people
- Sponsor
- Assiut University
Sex Chromosome Disorders
Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders
To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these…
- Trial name
- NCT07304193
- Where
- Denmark
- Volunteers
- 120 people
- Sponsor
- University of Aarhus
Cystic Fibrosis, Immunologic Deficiency Syndrome
Natural History of Noncirrhotic Portal Hypertension
Background: Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs.
- Conditions
- Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis
- Trial name
- NCT02417740
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Classic Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficiency
Pediatric Congenital Adrenal Hyperplasia Management: Regret and Long-term Outcomes
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a chronic endocrine disorder, often diagnosed in the neonatal period. Severe forms may lead to genital virilization in afected girls and adrenal crises.
- Trial name
- CAH - REC (NCT07781267)
- Testing
- questionnaire
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Lille
CAH - 21-Hydroxylase Deficiency
Parenting and CAH - 21-hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) is a genetic disease with autosomal recessive transmission, which is defined by a deficiency of one of the steroidogenesis enzymes.
- Trial name
- PARENT-HCS (NCT06900153)
- Testing
- phone questionnaire
- Where
- 7 sites in France
- Volunteers
- 200 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Type 1 Diabetes Mellitus, Polycystic Ovary Syndrome (PCOS)
Polycystic Ovary Syndrome in Type 1 Diabetes
BACKGROUND Functional ovarian hyperandrogenism, including the polycystic ovary syndrome (PCOS), is very prevalent in women with type 1 diabetes (T1D). The pathogenic mechanisms of this association remain unclear.
- Trial name
- NCT07490964
- Testing
- Type 1 diabetes mellitus, Elevated circulating androgen levels, Sex dimorphism
- Where
- Spain
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal