Clinical trials: Klinefelter Syndrome
Down Syndrome, Turner Syndrome
Hematological Profile in Children With Numerical Chromosomal Disorders
This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of…
- Conditions
- Down Syndrome, Turner Syndrome, Klinefelter Syndrome, Trisomy 18
- Trial name
- NCT07807540
- Volunteers
- 158 people
- Sponsor
- Assiut University
Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy
Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy
Mosaic sex chromosome aneuploidy 47,XXY/46,XX is an exceptionally rare variant within the spectrum of Klinefelter syndrome. Available data remain limited, especially regarding adult phenotype and long-term characteristics, and no…
- Conditions
- Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy, Disorders of Sex Development (DSD), Sex Chromosome Disorders
- Trial name
- MOSAI-XX (NCT07885163)
- Where
- France
- Volunteers
- 257 people
- Sponsor
- Université Paris-Saclay
Sex Chromosome Disorders
A Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome Aneuploidies
We will examine is Social Management Training, a 10-session group-based psychosocial intervention will improve the primary outcome mental health, and secondary outcomes executive functions and autism symptoms, in a multiple…
- Trial name
- TRICXY-SMT (NCT07718997)
- Testing
- Social Management Training
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- University of Oslo
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
Klinefelter Syndrome
Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
The study seeks primarily to determine whether modulation of systemic and testicular sex steroids balance by aromatase inhibitors will positively affect the metabolic health and spermatogenesis of men with Klinefelter syndrome…
- Trial name
- KLIN-HEALTH (NCT05586802)
- Testing
- Anastrozole, Semaglutide, human chorionic gonadotropin
- Where
- Switzerland
- Volunteers
- 150 people
- Sponsor
- Georgios Papadakis
Sex Chromosome Disorders
Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders
The aim of the project is to: 1. Investigate organ development and growth in fetuses with sex chromosome disorders; 2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first…
- Trial name
- NCT07341412
- Where
- Denmark
- Volunteers
- 300 people
- Sponsor
- University of Aarhus
Sex Chromosome Disorders
Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders
To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these…
- Trial name
- NCT07304193
- Where
- Denmark
- Volunteers
- 120 people
- Sponsor
- University of Aarhus
Klinefelter Syndrome
Fertility Preservation in Cases of Klinefelter Syndrome.
Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism.
- Trial name
- FERTIPRESERVE (NCT01918280)
- Testing
- Seminal analyses and testicular biopsy
- Where
- 4 sites in France
- Volunteers
- 141 people
- Sponsor
- Hospices Civils de Lyon
Klinefelter Syndrome
Long-term Systematic Follow-up of Patients With Klinefelter Syndrome Followed at the Department of Growth and Reproduction, Rigshospitalet
Klinefelter syndrome (KS) is the most frequent sex chromosome disorder affecting approximately 1:660 newborn boys. The prevalence of KS rises to 3-4% among infertile males and 10-15% in patients with non-obstructive azoospermia.
- Trial name
- FOXXY (NCT07142135)
- Testing
- There is no intervention, only clinical description
- Where
- Denmark
- Volunteers
- 300 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Klinefelter Syndrome, Thyroiditis, Autoimmune
Thyroid Function and Structure in Klinefelter Syndrome
This is a longitudinal retrospective study for the evaluation of thyroid function and structure in patients with Klinefelter syndrome compared to healthy controls and patients affected by chronic lymphocytic thyroiditis.
- Conditions
- Klinefelter Syndrome, Thyroiditis, Autoimmune, Hypothyroidism
- Trial name
- THINKS (NCT05581147)
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- University of Roma La Sapienza
Klinefelter Syndrome
Klinefelter Syndrome and Testosterone Treatment in Puberty
The goal of this randomized clinical trial is to study the effect of testosterone replacement therapy during puberty in boys with Klinefelter syndrome (KS, 47,XXY).
- Trial name
- TiPY (NCT06294990)
- Testing
- Testosterone gel
- Where
- Denmark
- Volunteers
- 32 people
- Sponsor
- Lise Aksglæde
Endocrinology, Disorders of Sexual Development
Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon
Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal…
- Conditions
- Endocrinology, Disorders of Sexual Development, Prenatal Diagnosis, Psychology
- Trial name
- PECAN-VDG (NCT06687252)
- Where
- France
- Volunteers
- 170 people
- Sponsor
- Hospices Civils de Lyon
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, Trisomy X
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early…
- Conditions
- Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome
- Trial name
- NCT03396562
- Testing
- Assessments of Development and Growth
- Where
- 2 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of Colorado, Denver
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
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
Klinefelter Syndrome, Infertility, Male
Unraveling the Klinefelter's Disease Physiopathology
Organoid Model to unravel Klinefelter Syndrome infertility Klinefelter Syndrome (KS) is characterized by the presence of an extra chromosome X in male (47,XXY), it is the most frequent genetic cause of azoospermia in adult men.
- Trial name
- KLINEFELTER (NCT05997706)
- Testing
- Testicular biopsy
- Where
- Belgium
- Volunteers
- 20 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Klinefelter Syndrome
TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development.
- Trial name
- TESTO (NCT03325647)
- Testing
- Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- University of Colorado, Denver
Klinefelter Syndrome, 47,XXY
Cardiometabolic Profiles of Boys With Klinefelter Syndrome
This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver.
- Conditions
- Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
- Trial name
- NCT02723305
- Testing
- No intervention
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- University of Colorado, Denver
Klinefelter Syndrome, XXY Syndrome
Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
The purpose of this study is to determine if testosterone replacement therapy leads to changes in psychological factors and/or motor skills in adolescent males with 47,XXY (also called Klinefelter syndrome).
- Trial name
- TestoXXY/KS (NCT01585831)
- Testing
- Testosterone gel 1%
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- University of Colorado, Denver