Clinical trials: Klinefelter Syndrome, active
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
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
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, 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
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
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
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 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
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
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, 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
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
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