Clinical trials: Turners Syndrome
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)
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
Marfan Syndrome, Loeys-Dietz Syndrome
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes.
- Conditions
- Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome
- Trial name
- NCT02213484
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Oxytocin Deficiency, Hypopituitarism
Identification and Clinical Relevance of an Oxytocin Deficient State (Melatonin Study)
Oxytocin (OT) is a hypothalamic peptide that enters the peripheral circulation via the posterior pituitary gland. OT plays a key role in regulating appetite, psychopathology, prosocial behavior and sexual function.
- Conditions
- Oxytocin Deficiency, Hypopituitarism, Hypothalamic Obesity, Pituitary Dysfunction
- Trial name
- NCT05319301
- Testing
- Melatonin
- Where
- Spain
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
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
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
Turner Syndrome
Effect of Turner Syndrome on Number Sense
This study evaluates approximate number sense (ANS) in children, adolescents, and adult women with Turner syndrome compared to age-matched healthy peers.
- Trial name
- NCT03459651
- Testing
- ANS training
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Stanford University
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
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
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
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
Cardiovascular Phenotype, Metabolic Phenotype
Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study
Background: Mosaicism is a condition in which cells within the same person have a different genetic makeup. Sometimes, a type of mosaicism called 45,X may not be discovered in a woman until she undergoes routine tests during…
- Conditions
- Cardiovascular Phenotype, Metabolic Phenotype, Hypertensive Disease, Psychological Phenotype
- Trial name
- NCT05548881
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Turner Syndrome
Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome
Turner Syndrome (TS) is associated with osteopenia and osteoporosis. Reduced bone mineral density (BMD) and increased risk of fractures are present in many younger and middle-aged women with TS.
- Trial name
- NCT00625001
- Volunteers
- 54 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
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.
Trisomy 13, Trisomy 18
High Risk Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm 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
- NCT02278874
- Where
- 4 sites in United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.