Clinical trials: Monosomy X
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
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.
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
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
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.
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, 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
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
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, 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
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, 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, 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 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
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
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, 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
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
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
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