Clinical trials: DSD
Congenital Adrenal Hyperplasia
A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH)
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.
- Trial name
- NCT04783181
- Testing
- AAV BBP-631
- Where
- 5 sites in United States
- Volunteers
- 8 people
- Sponsor
- Adrenas Therapeutics Inc
Hyperandrogenism
Combined Use of Machine Learning and Metabolomics to Improve the Diagnosis and Management of Hyperandrogenism
Hyperandrogenism is a common reason for consultation, the causes of which can range from common conditions (PCOS) to rarer conditions with major genetic implications (NC21OHD).
- Trial name
- HYPERMETABO (NCT07253454)
- Testing
- data collection
- Volunteers
- 800 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Turner's Syndrome
Initiating Transdermal Estradiol Therapy in Turner's Syndrome
This is a multicenter, randomized, controlled, semi-blinded study to compare two low doses of estradiol administered by recently available transdermal patches for the initiation of puberty in Turner syndrome girls 11.5-13.0 years…
- Trial name
- NCT00870220
- Testing
- Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
- Where
- 3 sites in United States
- Volunteers
- 1 people
- Sponsor
- University of Chicago
Hypogonadotropic Hypogonadism, Kallmann Syndrome
Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH)
The investigators are doing this research study to look at the relationship between testosterone (the main sex hormone in men) and insulin (the hormone that controls blood sugar levels) in men with Idiopathic Hypogonadotropic…
- Trial name
- NCT03118479
- Testing
- Anastrozole Pill, Testosterone
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Massachusetts General Hospital
Disorder of Sex Development, 46,XY
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population.
- Trial name
- GENEXPLOR (NCT05867979)
- Testing
- Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Montpellier
Pregnancy, Down Syndrome
Comparison of Aneuploidy Risk Evaluations
This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in…
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome
- Trial name
- CARE (NCT01663350)
- Where
- 26 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Verinata Health, Inc.
Down Syndrome, Edwards Syndrome
Whole Blood Specimen Collection From Pregnant Subjects
To obtain whole blood specimens from pregnant subjects to be used for research and development and clinical validation studies of prenatal assays.
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02430584
- Testing
- Observational - no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Progenity, Inc.
Polycystic Ovary Syndrome
Use of Osteopathic Principles for Nonpharmacologic, Therapeutic Interventions in Women With Polycystic Ovary Syndrome
The overall goals of this project are to assess the efficacy of non-pharmacological, complementary therapies to improve outcomes in the treatment of women with polycystic ovary syndrome (PCOS).
- Trial name
- NCT03383484
- Testing
- OMT, Yoga
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Diana Speelman, Ph.D.
Marfan Syndrome, Loeys-Dietz Syndrome
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes.
- Conditions
- Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome
- Trial name
- NCT02213484
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Congenital Adrenal Hyperplasia
Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia
Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease.
- Trial name
- cardiohcs (NCT01807364)
- Where
- France
- Volunteers
- 170 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Ambiguous Genitalia
Ultrasonic Measurements of the Clitoris in Fetuses
Abnormal enlargement of the clitoris in fetal life may be a sign for different pathologies. To the investigators knowledge there is no published nomogram of the clitoris size through gestation and it's assessment is usually…
- Trial name
- NCT01011400
- Where
- Israel
- Volunteers
- healthy volunteers welcome
- Sponsor
- Meir Medical Center
Kallmann Syndrome
A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland
Objective is to characterize epidemiology, clinical and genetic features of Kallmann syndrome in Finland.
- Trial name
- NCT00623116
- Testing
- Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below)
- Where
- Finland
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Hospital for Children and Adolescents, Finland
Turner's Syndrome
Turner Syndrome: Genotype and Phenotype
This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. Humans usually have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes…
- Trial name
- NCT00006334
- Where
- United States
- Volunteers
- 1,017 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Adrenal Hyperplasia, Congenital
Dexamethasone Treatment of Congenital Adrenal Hyperplasia
The purpose of this study is to determine if dexamethasone given at night is a more effective treatment for congenital adrenal hyperplasia in young children than standard three times per day hydrocortisone.
- Trial name
- NCT00621985
- Testing
- dexamethasone, Hydrocortisone
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Boston Children's Hospital
Turner Syndrome
Growth Hormone Treatment of Women With Turner Syndrome
Growth hormone treatment is used in girls with Turner syndrome to increase final height. The aim of this study is to evaluate the effect of growth hormone treatment on body composition and heart function in adult women with…
- Trial name
- NCT00420654
- Testing
- Growth Hormone, Healthy controls
- Where
- Denmark
- Volunteers
- 24 people
- Sponsor
- Britta E. Hjerrild
Anomaly Heart, Turner Syndrome
Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular Anomalies in Adult Patients with Turner Syndrome
Considering the high prevalence of cardiovascular disease in Turner syndrome patients, noninvasive cardiac imaging is crucial for diagnosis and follow-up.
- Trial name
- NCT06178887
- Testing
- imaging
- Where
- Italy
- Volunteers
- 33 people
- Sponsor
- Azienda Ospedaliero-Universitaria di Modena
Turner Syndrome, Hypogonadism
Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
The study attempts to evaluate if the way of administering estrogen, the principal female hormone, via patches or orally, affects the way estrogen works in girls with Turner Syndrome.
- Conditions
- Turner Syndrome, Hypogonadism, Premature Ovarian Failure
- Trial name
- NCT00140998
- Testing
- 17 beta estradiol
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Nemours Children's Clinic
Congenital Adrenal Hyperplasia
Effects and Importance of Epinephrine/Adrenalin Deficiency in CAH
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.
- Trial name
- NCT05162950
- Testing
- physical exercise as a standardized high intensity exercise test, Stress vulnerability
- Where
- Sweden
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Region Stockholm
Mild Autonomous Cortisol Secretion (MACS), Autonomous Cortisol Secretion (ACS)
Metyrapone Study for Patients Diagnosed With Mild Autonomous Cortisol Secretion - MACS
single-center, randomized, double-blind, placebo-controlled Phase 2 study to evaluate safety and efficacy of overnight metyrapone in patients with MACS.
- Trial name
- NCT07138274
- Testing
- Metyrapone 250 mg Oral Tablets
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Mayo Clinic
Congenital Adrenal Hyperplasia
Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency
The purpose of this study is to conduct an open, randomized controlled clinical trial, evaluating the effects of different dosage forms of glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase…
- Trial name
- CGP21 (NCT04536662)
- Testing
- Hydrocortisone, Prednisone, Dexamethasone
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine