Clinical trials: DSD
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)
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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
Hypothalamic Obesity
Open-Label Study of Setmelanotide in Hypothalamic Obesity
Open-label, single-arm study designed to evaluate the body weight response to setmelanotide administered subcutaneously (SC) daily in participants with hypothalamic obesity (HO).
- Trial name
- NCT04725240
- Testing
- Setmelanotide
- Where
- 5 sites in United States
- Volunteers
- 18 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Congenital Adrenal Hyperplasia
Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia
This phase III study is an open-label extension study to be conducted at approximately 21 investigational sites across 3 countries.
- Trial name
- NCT05299554
- Testing
- Chronocort
- Where
- 21 sites in United States, France and 1 more
- Volunteers
- 76 people
- Sponsor
- Immedica Pharma AB
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
CAH - Congenital Adrenal Hyperplasia
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 (Crinecerfont) in Pediatric Participants With Congenital Adrenal Hyperplasia
This is a Phase 2, open-label, multiple-dose, study to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NBI-74788 (crinecerfont) in pediatric participants (14 to 17 years of age) with a…
- Trial name
- NCT04045145
- Testing
- Crinecerfont
- Where
- 6 sites in United States
- Volunteers
- 8 people
- Sponsor
- Neurocrine Biosciences
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
Congenital Adrenal Hyperplasia
Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
This is a Phase 1, multicenter, open-label, single-dose study to evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NBI-77860 in subjects with congenital adrenal hyperplasia (CAH).
- Trial name
- NCT02349503
- Testing
- NBI-77860
- Where
- 2 sites in United States
- Sponsor
- Neurocrine Biosciences
Hypothalamic Obesity, Hypothalamic Tumor
Efficacy and Safety of Phentermine/Topiramate in Youth With Hypothalamic Obesity
Hypothalamic obesity (HO) refers to the substantial weight gain that often complicates hypothalamic brain tumors. Children with this treatment-recalcitrant form of obesity have excess rates of metabolic sequelae compared to…
- Conditions
- Hypothalamic Obesity, Hypothalamic Tumor, Craniopharyngioma
- Trial name
- NCT06299891
- Testing
- Phentermine / Topiramate Extended Release Oral Capsule [Qsymia]
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Seattle Children's Hospital
Hepatic Sarcoma
Undifferentiated Embryonal Sarcoma of the Liver: Evaluation of the Relapse Profile According to the Therapies Administered
Undifferentiated embryonal sarcoma of the liver is the 3rd most common malignant liver tumor after hepatoblastoma and hepatocellular carcinoma with a peak incidence between 6 and 10 years of age.
- Trial name
- SARCOM (NCT05640960)
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
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
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.
Growth Hormone Deficiency
Use of miRNAs in Growth Hormone Deficiency (GHD)
This study aims at improving knowledge about the diagnosis of growth hormone deficiency (GHD) and treatment with growth hormone (GH), with the goal of providing information on the presence of new biomarkers, such as miRNAs, for…
- Trial name
- GH-miRNA2 (NCT06455956)
- Where
- Italy
- Volunteers
- 400 people
- Sponsor
- University of Parma
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
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
Polycystic Ovary Syndrome, Hyperandrogenism
Effect of Metformin on Sensitivity of the GnRH Pulse Generator to Suppression by Estradiol and Progesterone
Many, but not all, girls with high levels of the male hormone testosterone go on to develop polycystic ovary syndrome (PCOS) as adults.
- Trial name
- NCT01427595
- Testing
- Metformin, Progesterone, estrace
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of Virginia
PCOS (Polycystic Ovary Syndrome), Obese Adolescents
Lean Beef as Part of a Healthy Meal Plan in Adolescents With Polycystic Ovary Syndrome (PCOS)/Polyendocrine Metabolic Ovarian Syndrome (PMOS)
This pilot randomized controlled study will plan to enroll 36 adolescent females with Polycystic Ovary Syndrome (PCOS)/Polyendocrine Metabolic Ovarian Syndrome (PMOS) to evaluate the effectiveness and feasibility of a tailored…
- Conditions
- PCOS (Polycystic Ovary Syndrome), Obese Adolescents, Overweight (Without Type 2 Diabetes) With Weight-related Comorbidities, Overweight Adolescents
- Trial name
- Beef+ (NCT07780188)
- Testing
- Beef+
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Texas A&M University
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
Klinefelter Syndrome
TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development.
- Trial name
- TESTO (NCT03325647)
- Testing
- Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- University of Colorado, Denver