Clinical trials: Klinefelter 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
Osteoporosis
Skeletal Health of Klinefelter Patients
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
- Trial name
- NCT03704987
- Testing
- dual-energy X-ray absorptiometry
- Where
- Turkey (Türkiye)
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
Klinefelter Syndrome
Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome
This study will learn more about how the body uses energy. Usually, the body uses sugars as energy first and then fats are used when the sugar stores are gone. Some people have trouble using fats as energy.
- Trial name
- NCT05498090
- Testing
- Fenofibrate 145 mg
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Klinefelter Syndrome, Thrombosis
Thrombosis and Neurocognition in Klinefelter Syndrome
The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis and a selection of neuropsychological…
- Trial name
- NCT02526628
- Where
- Denmark
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Cardiac Event, Klinefelter Syndrome
TyG Index Levels in Klinefelter Syndrome
It is well known that the frequency of cardiometabolic diseases are increased in patients with Klinefelter Syndrome. The triglyceride-glucose index (TyG index) is a simple surrogate marker of insulin resistance and is also…
- Conditions
- Cardiac Event, Klinefelter Syndrome, Endothelial Dysfunction
- Trial name
- NCT05014997
- Testing
- no intervention
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Gulhane School of Medicine
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.
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory
Klinefelter Syndrome, Diabetes
Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility.
- Conditions
- Klinefelter Syndrome, Diabetes, Osteoporosis, Metabolic Syndrome
- Trial name
- NCT00523835
- Where
- Denmark
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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
Klinefelter Syndrome, Hypogonadism
Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients.
- Trial name
- IZKF-CRA03-09 (NCT01703676)
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University Hospital Muenster
Klinefelter Syndrome
Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome
The purpose of this study is to investigate the following: 1. Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity. 2.
- Trial name
- NCT00999310
- Where
- Denmark
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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
Sex Chromosome Aneuploidy
Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)
GALAXY is a registry research study that plans to learn more about individuals with X\&Y variations (also called sex chromosome aneuploidies) through collecting information from medical records.This includes genetic tests…
- Trial name
- GALAXY (NCT06373861)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 5,000 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
Steroidogenesis, Klinefelter Syndrome
Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome
The study design included six visits. During the first visit (visit 0), the subjects underwent physical examination(height, weight, body mass index (BMI), arm span, and upper segment measurement) and testicular ultrasound (US)…
- Conditions
- Steroidogenesis, Klinefelter Syndrome, Human Chorionic Gonadotropin (hCG) Stimulation
- Trial name
- NCT02788136
- Testing
- human chorionic gonadotropin
- Where
- Italy
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Azienda USL Modena