Clinical trials: Disorders of Sex Development
Turner Syndrome
Quantitative Liver Functions in Turner Syndrome With and Without Hormone Replacement Therapy
Several studies have demonstrated that Turner Syndrome patients have elevated liver enzymes readily suppressible by a short course of HRT.
- Trial name
- NCT00825617
- Testing
- Hormone replacement therapy
- Where
- Denmark
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Endocrinology, Disorders of Sexual Development
Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon
Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal…
- Conditions
- Endocrinology, Disorders of Sexual Development, Prenatal Diagnosis, Psychology
- Trial name
- PECAN-VDG (NCT06687252)
- Where
- France
- Volunteers
- 170 people
- Sponsor
- Hospices Civils de Lyon
Sexual Health, Education, Health
Health Education and Relationships Through Theater: An RCT of Promoting Awareness Through Live Movement and Sound for Youth With Autism Spectrum Disorder (PALMS-ASD)
Teens with ASD ages 14-19 will be screened for eligibility, complete a baseline interviewer/ACASI-administered survey, and randomly assigned to either intervention or control group. The enrollment goal is 500 teens.
- Trial name
- HEART (NCT04005547)
- Testing
- Promoting Awareness through Live Movement and Sound for youth with Autism Spectrum Disorder
- Where
- United States
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Public Health Management Corporation
Fragile X Syndrome
A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome
The purpose of this study is to determine whether NNZ-2566 is safe and well tolerated in the treatment of Fragile X Syndrome in adolescent and adult males.
- Trial name
- NCT01894958
- Testing
- NNZ-2566
- Where
- 17 sites in United States
- Volunteers
- 72 people
- Sponsor
- Neuren Pharmaceuticals Limited
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
Congenital Adrenal Hyperplasia, Hyperplasia
Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
This is an open-label, non-randomized, single arm proof-of concept feasibility trial comparing standard oral hydrocortisone (HC) treatment with a six-week intervention of interval bolus delivery (pulsatile) of subcutaneous (SQ)…
- Conditions
- Congenital Adrenal Hyperplasia, Hyperplasia, Adrenal Hyperplasia, Congenital Disorders
- Trial name
- NCT03718234
- Testing
- Subcutaneous hydrocortisone
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Minnesota
Disorders of Sex Development, Congenital Adrenal Hyperplasia
Gene Polymorphisms Influencing Steroid Synthesis and Action
The extend of steroid biosynthesis and action is mainly dependent on underlying genetic polymorphisms and gene mutations. These sequence variations in multiple genes involved in steroid biosynthesis and action cause different…
- Conditions
- Disorders of Sex Development, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia, Adrenal Insufficiency
- Trial name
- NCT00485186
- Volunteers
- healthy volunteers welcome
- Sponsor
- University Hospital Schleswig-Holstein
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
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)
Turner Syndrome, Idiopathic Short Stature
Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature
Growth hormone treatment improves body fat distribution but also causes insulin resistance. Scientists have recently linked insulin resistance with special stores of fat in the muscles, which can be measured by magnetic resonance…
- Trial name
- NCT00121875
- Testing
- somatropin (rDNA)
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Massachusetts General Hospital
Turner's Syndrome
A Clinical Study to Assess the Efficacy and Safety of DA-3002
A study demonstrates the non-inferiority of DA-3002 when compared with Genotropin®.
- Trial name
- NCT01813630
- Testing
- DA-3002, Genotropin®
- Where
- South Korea
- Volunteers
- 58 people
- Sponsor
- Dong-A ST Co., Ltd.
Genetic Disorder, Turner Syndrome
Use of Somatropin in Turner Syndrome
This trial is conducted in Europe. The aim of this trial is to study the dose-response relationship and effect of somatropin (Norditropin®) on final height in girls with Turner Syndrome.
- Trial name
- NCT01518036
- Testing
- somatropin
- Where
- United Kingdom
- Volunteers
- 57 people
- Sponsor
- Novo Nordisk A/S
Testicular Adrenal Rest Tumor, Congenital Adrenal Hyperplasia
Testicular Adrenal Rest Tumor in Congenital Adrenal Hyperplasia Patients Attending Assuit University Children Hospital
assessment of the risk factors contributing for TART development in a male child with congenital adrenal hyperplasia.
- Trial name
- NCT06564220
- Volunteers
- 30 people
- Sponsor
- Assiut University
Congenital Adrenal Hyperplasia
Surgical Evaluation of Using the Prepuce in Feminizing Genitoplasty
Background and Rationale: The vaginoplasty remains a challenge for the surgeon. The most commonly used techniques have been: the Y-V plasty described by fortunoff for low vagina, the pullthrough operation described by Hendren and…
- Trial name
- NCT03897504
- Testing
- feminizing genitoplasty using inner surface of the prepuce as pedicled tubularized flap
- Where
- Egypt
- Volunteers
- 5 people
- Sponsor
- Kasr El Aini 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
Child Behavior
Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts
'PREDICTORS' (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) aims to evaluate web-based training packages for caregivers of children who show frequent temper outbursts following changes to…
- Trial name
- PREDICTORS (NCT02567357)
- Testing
- Visual Scheduling, signalling change
- Where
- United Kingdom
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Queen's University, Belfast
Turner Syndrome, Short Stature
D3-GHR Polymorphism and Turner Syndrome
The protein polymorphism of the growth hormone receptor characterized by the genomic deletion of exon 3 has been linked to the magnitude of the first-year-growth response to growth hormone (GH) in girls with Turner syndrome.
- Trial name
- NCT00443144
- Testing
- recombinant human growth hormone
- Where
- Germany
- Sponsor
- University Hospital Tuebingen
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
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Autism Spectrum Disorder, Fragile X Syndrome
Speech-in-noise Perception in Autism and Fragile X
The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact.
- Trial name
- NCT06088589
- Testing
- Mismatch negativity
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati