Clinical trials: Intersex
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Hypogonadotropic Hypogonadism, Kallmann Syndrome
Kisspeptin Administration in the Adult
The goal of this study is to learn about the role of kisspeptin in the reproductive system. Kisspeptin is a naturally occurring hormone in humans that causes the release of other hormones, including gonadotropin-releasing hormone…
- Conditions
- Hypogonadotropic Hypogonadism, Kallmann Syndrome, GnRH Deficiency, PCOS
- Trial name
- NCT00914823
- Testing
- kisspeptin 112-121, GnRH
- Where
- United States
- Volunteers
- 256 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Congenital Adrenal Hyperplasia
Tweens to Teens Project at Penn State
The goal of this study is to help investigators to understand more about the development of characteristics related to being male or female (what is called gender development).
- Trial name
- T2T@PSU (NCT01184651)
- Testing
- Questionnaires/Interviews
- Where
- United States
- Volunteers
- 188 people, healthy volunteers welcome
- Sponsor
- Penn State University
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
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Biphenotypic Leukemia
Selective Depletion of CD45RA+ T Cells From Allogeneic Peripheral Blood Stem Cell Grafts From HLA-Matched Related and Unrelated Donors in Preventing GVHD
This phase II trial is for patients with acute lymphocytic leukemia, acute myeloid leukemia, myelodysplastic syndrome or chronic myeloid leukemia who have been referred for a peripheral blood stem cell transplantation to treat…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Biphenotypic Leukemia, Acute Leukemia of Ambiguous Lineage, Acute Undifferentiated Leukemia
- Trial name
- NCT02220985
- Testing
- Allogeneic Hematopoietic Stem Cell Transplantation, Cyclophosphamide, Fludarabine Phosphate
- Where
- 2 sites in United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Fred Hutchinson Cancer Center
Anovulation, Hyperandrogenism
Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome
Background: Infertility affects up to 15% of married couples. About half are attributable to female factors, among which anovulation is the leading cause.
- Conditions
- Anovulation, Hyperandrogenism, Polycystic Ovary Syndrome, Single Nucleotide Polymorphism
- Trial name
- NCT00665171
- Where
- Israel
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Maaynei Hayesha Medical Center
Azoospermia
Obtaining Undifferentiated Cells From Testis Biopsy
The purpose of this study is to isolate and culture stem cell from adult human testicular biopsies for future transplantation in fertility preservation.
- Trial name
- NCT01375062
- Testing
- analyse and proliferate the cells
- Where
- Spain
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Igenomix
Klinefelter Syndrome, Diabetes
Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility.
- Conditions
- Klinefelter Syndrome, Diabetes, Osteoporosis, Metabolic Syndrome
- Trial name
- NCT00523835
- Where
- Denmark
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Turner Syndrome
Risk of Diabetes in Young Turner Syndrome Patients
Turner Syndrome is a common genetic disorder. Seventy percent of adults with Turner Syndrome have abnormalities in glucose metabolism which can lead to diabetes.
- Trial name
- NCT02160717
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Trisomy 13, Trisomy 18
Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278536
- Where
- 8 sites in United States, India and 1 more
- Volunteers
- 354 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Early Undifferentiated Arthritis
CPMC Early Undifferentiated Arthritis Registry
The CPMC early arthritis registry will recruit participants from a population of new patients undergoing evaluation at the office of participating physicians.
- Trial name
- CEUAR (NCT02353221)
- Where
- United States
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- California Pacific Medical Center Research Institute
Hyperandrogenism
Sleep-wake Changes of Luteinizing Hormone Frequency in Pubertal Girls With and Without High Testosterone
The purpose of this study is to determine whether sleep-wake changes of luteinizing hormone pulse frequency are different in early pubertal girls with high testosterone levels compared to early pubertal girls with normal…
- Trial name
- CRM005 (NCT00930007)
- Testing
- Blood sampling
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Polycystic Ovary Syndrome
Effects of Metformin and Oral Hormonal Contraceptive in Adolescents With Polycystic Ovary Syndrome
The polycystic ovary syndrome is the most common endocrinopathy in reproductive age women. The pathophysiology of this syndrome remains unclear, but there are evidences that a decreased in insulin sensitivity may be related in…
- Trial name
- NCT00988078
- Testing
- Metformin
- Where
- Brazil
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Federal University of São Paulo
Turner Syndrome, Hypogonadism
Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
Estrogen is necessary for feminization during puberty and to decrease bone resorption, the latter critical for the achievement of peak bone mass and normal bone health in the female.
- Conditions
- Turner Syndrome, Hypogonadism, Premature Ovarian Failure
- Trial name
- NCT00837616
- Testing
- 17 B estradiol orally, 17 B estradiol
- Where
- 3 sites in United States, Chile
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Scleroderma (Limited and Diffuse), Undifferentiated Connective Tissue Disease
Metabolomic Analysis of Systemic Sclerosis
Currently investigators do not have diagnostic and prognostic markers for SSc which almost always starts with a vascular disease (Raynaud's disease) isolated for several years.
- Conditions
- Scleroderma (Limited and Diffuse), Undifferentiated Connective Tissue Disease, Raynaud Disease, Vascular Disease
- Trial name
- SCLEROMICS (NCT02298777)
- Testing
- - Skin biopsy - Urine sample - Blood sample
- Where
- 4 sites in France
- Volunteers
- 121 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Adverse Effect of Oral Contraceptives, Initial Encounter
The Effect of Hormonal Contraception on Female
The aim- To evaluate the impact of combined oral contraceptives on women's psychosexual, metabolic, blood coagulation, hormonal and genetic measures.
- Trial name
- HORMCONTRA (NCT01852786)
- Testing
- Contraceptives, Oral, Combined, Controls
- Where
- Lithuania
- Volunteers
- 340 people, healthy volunteers welcome
- Sponsor
- Lithuanian University of Health Sciences
Turner Syndrome, Klinefelter Syndrome
X-chromosome Inactivation, Epigenetics and the Transcriptome
The human genetic material consists of 46 chromosomes of which two are sex chromosomes. The sex-chromosome from the mother is the X and from the father the Y-chromosome.
- Conditions
- Turner Syndrome, Klinefelter Syndrome, Triple X Syndrome, 47 XYY Syndrome
- Trial name
- NCT01678261
- Where
- Denmark
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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)