Clinical trials: DSD, open to volunteers
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Puberty, Hyperandrogenism
Acute Progesterone Suppression of Wake vs. Sleep Luteinizing Hormone Pulse Frequency in Pubertal Girls With and Without Hyperandrogenism
The purpose of this study is two-fold. (1) We will determine if in mid- to late pubertal girls without hyperandrogenism (HA), progesterone (P4) acutely reduces waking luteinizing hormone (LH) frequency to a greater extent than…
- Trial name
- CRM003 (NCT00929006)
- Testing
- Micronized progesterone suspension
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Virginia
PCOS, Offspring, Adult
Offspring Born to Mothers With Polycystic Ovary Syndrome in Guangzhou Cohort Study
The Offspring Born to Mothers with Polycystic Ovary Syndrome in Guangzhou Cohort study (PCOS-BIG) was established to investigate the short- and long-term effects of intrauterine exposure to maternal PCOS on the health of…
- Conditions
- PCOS, Offspring, Adult, Hyperandrogenism, Epigenetics
- Trial name
- PCOS-BIG (NCT03742011)
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Guangzhou Women and Children's Medical Center
Kallmann Syndrome, Hypogonadotropic Hypogonadism
Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.
- Conditions
- Kallmann Syndrome, Hypogonadotropic Hypogonadism, Hypothalamic Amenorrhea, Polycystic Ovarian Syndrome
- Trial name
- NCT01601171
- Where
- Switzerland
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire Vaudois
Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Background: Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene).
- Conditions
- Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
- Trial name
- NCT04708431
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Turner Syndrome, Cardiovascular Diseases
Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome
100 women with karyotype verified TS, previously examined at 4 study visits during a 19-year period will be asked to participate in a 5th study visit. Healthy age-matched females will be included as controls in a ratio 2:1.
- Conditions
- Turner Syndrome, Cardiovascular Diseases, Lymphedema, Inflammation
- Trial name
- TSCOR_V (NCT06325618)
- Testing
- No intervention other than obtaining biopsies, Indocyanine green (ICG)
- Where
- Denmark
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
DSD, Hypospadias
Breaking Silence Through Story: A Narrative Medicine Intervention for Parents of Children With Urogenital Conditions
The goal of this clinical trial is to learn whether a journaling intervention can reduce stress and anxiety in parents of children with urogenital conditions (such as differences of sex development and hypospadias).
- Trial name
- NCT06989593
- Testing
- Narrative Medicine Journaling Intervention
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Sarah Schlegel
Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract
Data Collection Study of Pediatric and Adolescent Gynecology Conditions
Background: Gynecologic conditions are those that are related to the reproductive system. They can be reproductive gland disorders or reproductive system tumors. They can also be inborn anomalies of the reproductive tract.
- Conditions
- Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract, Reproductive Endocrine Conditions in Puberty, Structural Gynecologic Conditions Including Vulvar and Vaginal Conditions
- Trial name
- NCT04717349
- Where
- United States
- Volunteers
- 11,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fertility Disorders, Turner Syndrome
The Danish TURNER Cryopreservation Study
The goal of this clinical trial is to investigate if cryopreservation of ovarian tissue in girls with Turner syndrome can improve their fertility and lead to increased number of liveborn babies of Turner syndrome mothers.
- Conditions
- Fertility Disorders, Turner Syndrome, Premature Ovarian Failure
- Trial name
- DANTE (NCT05740579)
- Testing
- laparoscopic cryopreservation of one ovary
- Where
- Denmark
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Turner Syndrome, Hypogonadism; Ovarian
Long Term Effects of Oral Versus Transdermal Estrogen Replacement Therapy in Turner Syndrome
This 14-month, phase IV, randomized controlled crossover trial aims to compare the effects of oral versus transdermal estrogen replacement therapy (ERT) in women with Turner syndrome (TS).
- Conditions
- Turner Syndrome, Hypogonadism; Ovarian, Hormone Replacement Therapy, Estrogen Replacement Therapy
- Trial name
- NCT06570460
- Testing
- 17-beta estradiol
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Aarhus University Hospital
Congenital Adrenal Hyperplasia (CAH)
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of OMS1620
The goal of this study is to explore the safety, drug concentrations and effects on adrenal gland hormones after a single dose or multiple doses of OMS1620 in healthy participants.
- Trial name
- NCT07811089
- Testing
- OMS1620
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- OMass Therapeutics Australia Proprietary Ltd
Polycystic Ovary Syndrome (PCOS), Metabolic Dysfunction-Associated Steatotic Liver Disease
Biomarker Panel for PCOS-Associated Liver Steatosis in Adolescent Girls (COMPASS-pedPCOS)
This single-center, prospective, observational, cross-sectional mechanistic pilot study will evaluate whether polycystic ovary syndrome (PCOS) contributes to hepatic steatosis in adolescent girls independently of adiposity.
- Conditions
- Polycystic Ovary Syndrome (PCOS), Metabolic Dysfunction-Associated Steatotic Liver Disease, Pediatric Obesity, Hyperandrogenism
- Trial name
- COMPASSpedPCOS (NCT07731373)
- Testing
- Extended Serum Biomarker and Hormonal Panel, Liver Elastography with Controlled Attenuation Parameter, Targeted Genotyping of PNPLA3 rs738409 and HSD17B13 rs72613567
- Where
- Turkey (Türkiye)
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Kayseri City Hospital
Hyperandrogenism, Metabolic Disease
FEmale Metabolic Risk and Androgens: an Irish Longitudinal (FEMAIL) Study
Androgen excess is the cardinal biochemical feature of polycystic ovary syndrome (PCOS), a lifelong metabolic disorder affecting 10% of women.
- Conditions
- Hyperandrogenism, Metabolic Disease, Sex Hormones Adverse Reaction
- Trial name
- FEMAIL (NCT04912648)
- Testing
- Longitudinal follow up
- Where
- Ireland
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Royal College of Surgeons, Ireland
Hyperandrogenism, Polycystic Ovary Syndrome
Hyperandrogenemia and Altered Day-night LH Pulse Patterns
The purpose of this study is to determine if, in mid- to late pubertal girls with hyperandrogenism, androgen-receptor blockade (spironolactone) improves the ability of progesterone to acutely reduce waking luteinizing hormone…
- Conditions
- Hyperandrogenism, Polycystic Ovary Syndrome, Puberty
- Trial name
- CRM008 (NCT03068910)
- Testing
- Micronized progesterone, Spironolactone
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Virginia
DSD, 46,XY, DSD, Ovotesticular
Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development
The purpose of this study is to offer gonadal tissue freezing and storage to children who are diagnosed with a disorder of sex development (DSD), who are at increased risk of infertility and certain malignancies (cancer).
- Conditions
- DSD, 46,XY, DSD, Ovotesticular, DSD, Sex Chromosome, Disorders of Sex Development
- Trial name
- DSD (NCT06692049)
- Testing
- Gonadectomy
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Erin Rowell
Hyperandrogenism, Polycystic Ovary Syndrome
Does Spironolactone Normalize Sleep-wake Luteinizing Hormone Pulse Frequency in Pubertal Girls With Hyperandrogenism?
The purpose of this study is to determine if, in mid- to late pubertal girls with hyperandrogenism (HA), androgen-receptor blockade (spironolactone) alone normalizes sleep-wake luteinizing hormone (LH) pulse frequency (primary…
- Conditions
- Hyperandrogenism, Polycystic Ovary Syndrome, Puberty
- Trial name
- CBS010 (NCT04723862)
- Testing
- Spironolactone
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Sex Chromosome Aneuploidy
Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)
GALAXY is a registry research study that plans to learn more about individuals with X\&Y variations (also called sex chromosome aneuploidies) through collecting information from medical records.This includes genetic tests…
- Trial name
- GALAXY (NCT06373861)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Congenital Adrenal Hyperplasia
Development of Healthcare Transition for Patients With Congenital Adrenal Hyperplasia
The purpose of this study is to implement and evaluate the feasibility and acceptability of a structured healthcare transition program for adolescents and young adults with congenital adrenal hyperplasia (CAH).
- Trial name
- NCT07611786
- Testing
- exposure to healthcare transition protocol
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham