Clinical trials: Turner Syndrome
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
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Turner Syndrome, Aortic Aneurysm
Prospective Characterization of the Heart, Aorta and Blood Pressure in Turner Syndrome. Association With Aortic Dissection.
Turner syndrome is a congenital complete or partial lack one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation…
- Conditions
- Turner Syndrome, Aortic Aneurysm, Ischemic Heart Disease, Hypertension
- Trial name
- TSCORII (NCT01678274)
- Where
- Denmark
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Turner Syndrome, Ovarian Failure, Premature
Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure
Premature ovarian failure (POF) is known to be associated with an increased risk of ocular surface disease (dry eye), likely due to the reduction of both estrogens and androgens seen in this condition.
- Conditions
- Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause
- Trial name
- NCT00471731
- Where
- United States
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Turner Syndrome
Effects of Adrenal Androgens on Gender-typed Behavior in Girls With Turner Syndrome
Turner syndrome (TS) is a genetic disorder in which there is loss of all or part of the second X chromosome and occurs in 1/2500 live female births.
- Trial name
- NCT05346159
- Testing
- the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS
- Where
- Egypt
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Sohag University
Turner's Syndrome
An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG
Children with growth failure due to inadequate secretion of growth hormone or growth retardation due to Turner's syndrome are individually dosed and treated for 12 weeks
- Trial name
- NCT00250250
- Testing
- ZOMACTON
- Where
- 6 sites in Czechia, France and 1 more
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Ferring Pharmaceuticals
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.
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)
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
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)
Turner Syndrome, Infertility, Female
Turner Syndrome Minipuberty Study
Rationale: Due to accelerated germ cell loss, infertility is a major problem in girls with Turner syndrome (TS). Therefore, cryopreservation of ovarian tissue or oocytes before exhaustion of the ovarian reserve may preserve…
- Conditions
- Turner Syndrome, Infertility, Female, Premature Ovarian Failure, Gonadal Dysgenesis
- Trial name
- Minipuberty (NCT04189406)
- Testing
- Venapunction
- Where
- 13 sites in Denmark, Germany and 3 more
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Down Syndrome, Edwards Syndrome
Whole Blood Specimen Collection From Pregnant Subjects
To obtain whole blood specimens from pregnant subjects to be used for research and development and clinical validation studies of prenatal assays.
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02430584
- Testing
- Observational - no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Progenity, Inc.
Turner Syndrome
Sex Differences in Early Brain Development; Brain Development in Turner Syndrome
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males…
- Trial name
- NCT00877942
- Where
- United States
- Volunteers
- 295 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Gonadal Dysgenesis, Turner's Syndrome
The Effects of Estrogen on Cognition in Girls With Turner Syndrome
The development of the brain in females is a result of a combination of factors. During puberty estrogen plays a role in influencing brain development.
- Trial name
- NCT00001253
- Testing
- cognitive tests and scales
- Where
- United States
- Volunteers
- 950 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
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Turner Syndrome
Beta Cell Function in Women With Turner Syndrome
Diabetes is more frequent in women with Turner syndrome. The purpose of this study is to see, in what ways the glucose metabolism is different in this study population.
- Trial name
- NCT00419107
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Hypogonadotropic Hypogonadism, Healthy Postmenopausal Women
Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling
The investigators are looking for subjects to complete a study on the role of kisspeptin in the reproductive system. Kisspeptin is a naturally occurring hormone in humans that tells the body to produce other reproductive…
- Conditions
- Hypogonadotropic Hypogonadism, Healthy Postmenopausal Women, Agonadism
- Trial name
- NCT01438073
- Testing
- kisspeptin 112-121, GnRH
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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