Clinical trials: Turner Syndrome
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.
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
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)
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 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
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.
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
Sex Chromosome Abnormality, Klinefelter Syndrome
Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns.
- Conditions
- Sex Chromosome Abnormality, Klinefelter Syndrome, Turner Syndrome, Metabolic Disease
- Trial name
- EMKISCA (NCT05425953)
- Testing
- No intervention other than obtaining biopsies
- Where
- Denmark
- Volunteers
- 320 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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)
Turner Syndrome
Aortic Dimensions in Turner Syndrome
An observational study of 102 women with Turner syndrome followed for 6 years with a two-yearly examination including ECHO, MRI of the heart and 24 ambulatory blood pressure.
- Trial name
- NCT00624949
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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
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
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
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
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
Sensorineural Hearing Loss, Turner Syndrome
Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome
The goal of this case-control study is to pave the way for new revolutionary treatment measures within hearing loss that could either replace or delay the need for hearing aids.
- Conditions
- Sensorineural Hearing Loss, Turner Syndrome, Inner Ear Disease
- Trial name
- EPIHEAR (NCT06507007)
- Where
- Denmark
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Gødstrup Hospital
Fertility Perservation, Fertility
Fertility Attitudes of Adolescents and Young Adults With Turner Syndrome and Their Parents/Guardians (The Fertility ConcepTS Study)
Background: Turner syndrome (TS) is caused by the partial or complete absence of one of the two X chromosomes in all cells or a portion of cells.
- Trial name
- NCT05078892
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Neuralgic Amyotrophy, Neuralgic Amyotrophy, Hereditary
Neuralgic Amyotrophy: Central Reorganization and Rehabilitation After Peripheral Dysfunction
This study evaluates the effect of a specific, multidisciplinary and personalized rehabilitation program compared to usual care, on motor control and functional disability in patients with neuralgic amyotrophy.
- Conditions
- Neuralgic Amyotrophy, Neuralgic Amyotrophy, Hereditary, Parsonage Turner Syndrome, Brachial Neuritis
- Trial name
- NA-CONTROL (NCT03441347)
- Testing
- Specific rehabilitation program, Usual Care
- Where
- Netherlands
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center