Clinical trials: DSD
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
An Extension Study to Evaluate Safety and Efficacy of Atumelnant in Participants With Congenital Adrenal Hyperplasia
The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of atumelnant (CRN04894).
- Trial name
- CALM2-CAH (NCT06712823)
- Testing
- atumelnant (CRN04894)
- Where
- 13 sites in United States, Argentina and 4 more
- Volunteers
- 200 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Delayed Puberty, Kallmann Syndrome
Kisspeptin in the Evaluation of Delayed Puberty
The goal of this study is to test whether the hormone kisspeptin has the potential to prospectively diagnose adolescents with self-resolving or permanent delayed puberty.
- Conditions
- Delayed Puberty, Kallmann Syndrome, Hypogonadotropic Hypogonadism, GnRH Deficiency
- Trial name
- NCT01438034
- Testing
- kisspeptin 112-121, GnRH
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Massachusetts General Hospital
Congenital Adrenal Hyperplasia
Pharmacokinetics, Safety and Tolerability of Crinecerfont in Participants With Congenital Adrenal Hyperplasia Who Are Less Than 2 Years Old
The main objective for this study is to evaluate the pharmacokinetics (PK) of crinecerfont in pediatric participants 0 to <2 years of age with congenital adrenal hyperplasia (CAH).
- Trial name
- NCT07187375
- Testing
- Crinecerfont
- Where
- 3 sites in Germany
- Volunteers
- 7 people
- Sponsor
- Neurocrine Switzerland GmbH
Hypogonadotropic Hypogonadism, Kallmann Syndrome
Sequential Therapy for Hypogonadotropic Hypogonadism
The traditional therapy for induction of spermatogenesis in male hypogonadotropic hypogonadism requires both HCG and human menopausal gonadotropin (HMG) or FSH until pregnancy occurs.
- Trial name
- NCT01403532
- Testing
- Traditional intervention for HH using HCG and FSH, Sequential intervention for HH using HCG and FSH, Sequential intervention for HH using HCG and FSH plus zinc
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
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
Congenital Adrenal Hyperplasia (CAH), Familial Male-Limited Precocious Puberty (FMPP)
Natural History Study of Patients With Excess Androgen
This study will evaluate and gather information in patients with genetic causes of too much androgen (male-like hormone) in order to better understand the effects of too much androgen and describe problems associated with it.
- Trial name
- NCT00250159
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Genetic Disorder, Turner Syndrome
Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of the trial is to induce normal pubertal development in girls with Turner Syndrome in accordance with that of their peers and their individual state psychosocial maturation.
- Trial name
- NCT01710696
- Testing
- 17-beta estradiol
- Where
- 28 sites in Spain
- Volunteers
- 50 people
- Sponsor
- Novo Nordisk A/S
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
Congenital Adrenal Hyperplasia
Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old
The main objective of this study is to assess the safety and tolerability of crinecerfont in pediatric participants 3 months to <4 years of age with CAH.
- Trial name
- NCT07536269
- Testing
- Crinecerfont
- Where
- 11 sites in United States
- Volunteers
- 20 people
- Sponsor
- Neurocrine Switzerland GmbH
Turner's Syndrome
Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome.
- Trial name
- NCT00004274
- Testing
- Estrogen
- Where
- United States
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hypothalamic Obesity
A Study of Octreotide Depot vs Saline Control in Pediatric Hypothalamic Obesity Patients
The extension protocol is designed to allow those patients randomized to placebo in the core portion of the protocol to receive a 6 month treatment of open label octreotide and allow those patients randomized to octreotide who…
- Trial name
- NCT00171613
- Testing
- Octreotide
- Volunteers
- 32 people
- Sponsor
- Novartis
Klinefelter Syndrome
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition.
- Trial name
- NCT02408445
- Testing
- testosterone cypionate 200mg/ml
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Colorado, Denver
Genetic Disorder, Turner Syndrome
Growth Response in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of the trial is to evaluate growth response of two somatropin dose regimens in girls with Turner Syndrome.
- Trial name
- NCT01734486
- Testing
- somatropin
- Where
- 15 sites in France
- Volunteers
- 31 people
- Sponsor
- Novo Nordisk A/S
Hypogonadotropic Hypogonadism, Reproductive Disorder
The Molecular Basis of Inherited Reproductive Disorders
The goal of this study is to learn more about the genes that control puberty and reproduction in humans.
- Conditions
- Hypogonadotropic Hypogonadism, Reproductive Disorder, Kallmann Syndrome, Delayed Puberty
- Trial name
- NCT05971836
- Where
- United States
- Volunteers
- 854 people
- Sponsor
- Stephanie B. Seminara, MD
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
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)
Child Development, Disorders of Sex Development
COPENHAGEN Minipuberty Study
Minipuberty is a term used to describe the transient activation of the pituitary-gonadal axis 2-3 months after birth in both boys and girls.
- Trial name
- CPHMINIPUB (NCT02784184)
- Where
- Denmark
- Volunteers
- 280 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Hypothalamic Obesity
A Trial of Setmelanotide in Acquired Hypothalamic Obesity
The goal of this trial 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 acquired Hypothalamic Obesity (HO).
- Trial name
- NCT05774756
- Testing
- Setmelanotide
- Where
- 28 sites in United States, Canada and 4 more
- Volunteers
- 143 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Turner Syndrome, Primary Ovarian Insufficiency (Poi)
Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome
This is a single-site open label non-randomized study comparing effects of sequential versus continuous use of progesterone supplementation amongst Turner Syndrome (TS) patients with primary ovarian insufficiency (POI) prescribed…
- Trial name
- BOOST (NCT06834594)
- Testing
- Micronized progesterone 200 MG, Micronized Progesterone 100 MG
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City