Clinical trials: Turners Syndrome
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 Syndrome
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality.
- Trial name
- Turner-Ylc (NCT06202846)
- Testing
- cfDNA analysis
- Where
- 2 sites in France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Strasbourg, France
Idiopathic Short Stature, Small for Gestational Age
A Trial of YPEG-rhGH in Children With Short Stature
To explore the dose-response relationship between pharmacokinetics and pharmacodynamics of Y- Shaped Pegylated growth hormone injection (YPEG-GH) in children with short stature (idiopathic short stature (ISS), small for…
- Conditions
- Idiopathic Short Stature, Small for Gestational Age, Turner Syndrome
- Trial name
- NCT05838885
- Testing
- YPEG-rhGH, rhGH
- Where
- 19 sites in China
- Volunteers
- 78 people
- Sponsor
- Xiamen Amoytop Biotech Co., Ltd.
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
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
UTHealth Turner Syndrome Research Registry
The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS.
- Trial name
- NCT03185702
- Testing
- Research genetic tests
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- The University of Texas Health Science Center, Houston
Turner's Syndrome, Human Growth Hormone Deficiency
Evaluation of Overall Compliance and Duration of Zomacton® Treatment With the Zomajet® Needle-free Device
The purpose of this strictly observational, prospective, longitudinal study is to evaluate with sufficient precision the rate of overall treatment compliance from one year to 3 years of follow-up of the patients.
- Trial name
- ZOMAJET (NCT01306357)
- Testing
- Somatropin
- Where
- 17 sites in France
- Volunteers
- 87 people
- Sponsor
- Ferring Pharmaceuticals
Turner Syndrome
Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?
Liver abnormalities are common in Turner syndrome. The physiopathology of these abnormalities is unknown for the moment but their potentially serious evolution requires additional explorations.
- Trial name
- NCT05473091
- Testing
- no intervention
- Where
- France
- Volunteers
- 179 people
- Sponsor
- Central Hospital, Nancy, France
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
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Klinefelter Syndrome, Turner Syndrome
Turner And Klinefelter Treatment Target Study
Rationale: Health related Quality of life (HRQoL) is impaired in patients with Turner and Klinefelter syndrome (TS and KS). It is unknown what the optimal endocrine treatment target values are that maximize HRQoL in patients with…
- Trial name
- TAKTT (NCT04803474)
- Testing
- Measurement of blood values, questionnaire scores and measurements of hormone levels in hair
- Where
- Netherlands
- Volunteers
- 370 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
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 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
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
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 Syndrome, Primary Ovarian Insufficiency
Sexuality and Sexual Quality of Life in Adult Patients With Turner Syndrome (TS) Compared With Patients With Primary Ovarian Insufficiency Different From TS
Turner syndrome (TS) is a rare disease affecting 1/2500 female. It is defined by a complete or partial loss of an X chromosome associated with clinical signs.
- Trial name
- SEXATURN (NCT05223621)
- Where
- France
- Volunteers
- 300 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY
Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome
This study plans to learn more about how the energy system works in girls with Turner syndrome. This is important to know so that the investigators understand how Turner syndrome relates to diseases such as diabetes, extra weight…
- Conditions
- Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY, Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X, Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)
- Trial name
- NCT03181230
- Testing
- No intervention
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Colorado, Denver
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
Growth Hormone Deficiency, Turner Syndrome
Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA , ISS and PWS in Children
The purpose of this study is to evaluate the long-term safety and effectiveness of growth hormone (Eutropin Inj./Eutropin plus Inj.) treatment with GHD (Growth Hormone Deficiency), TS (Turner Syndrome),CRF (Chronic Renal…
- Conditions
- Growth Hormone Deficiency, Turner Syndrome, Chronic Renal Failure, Small for Gestational Age
- Trial name
- LGS (NCT01604395)
- Where
- South Korea
- Volunteers
- 6,000 people
- Sponsor
- LG Chem
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.