Clinical trials: Sex Chromosome Disorders
Fragile X Syndrome, Healthy Volunteers
Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Biosynthesis of proteins is essential for growth and continued maintenance of the entire neuron including axons, dendrites, and synaptic terminals, and it is clearly one of the important biochemical processes underlying adaptive…
- Trial name
- NCT00362843
- Testing
- [15-O]water
- Where
- United States
- Volunteers
- 147 people
- Sponsor
- National Institute of Mental Health (NIMH)
Fragile X Syndrome, Disruptive Behavior
Treatment of Disruptive Behaviors in Fragile X Syndrome
Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing…
- Trial name
- NCT03510156
- Testing
- Behavior analytic treatment
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Klinefelter Syndrome, Azoospermia
Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection
Klinefelter syndrome KS is caused by an additional X chromosome in males (47,XXY). Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is made during adolescence or adulthood in males who have small…
- Trial name
- NCT02414295
- Testing
- Mesenchymal stem cell injection
- Where
- Egypt
- Volunteers
- 1 people
- Sponsor
- Man Clinic for Andrology, Male Infertility and Sexual Dysfunction
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
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.
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
Fragile X Syndrome
A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome
This is a 2-part study, with each part having a unique set of objectives for male adolescents aged 9 to < 18 years with fragile X syndrome (FXS).
- Trial name
- NCT05163808
- Testing
- zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 163 people
- Sponsor
- Tetra Discovery Partners
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
Anxiety Disorders, Child Developmental Disorders, Pervasive
Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes
By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.
- Trial name
- NCT00879515
- Where
- United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Turner's Syndrome
Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years
The objective of this study is to evaluate the efficacy and safety of recombinant human growth hormone (r-hGH) treatment in girls with Turner Syndrome under the age of 4 years.
- Trial name
- NCT01066052
- Testing
- r-hGH
- Where
- France
- Volunteers
- 115 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Growth Hormone Deficiency, Turner Syndrome
Evaluation of Convenience and Compliance of the Easypod™ Electronic Self-injector
This is an international, multicenter study involving children treated with Saizen®, a growth hormone, who will be trained to use easypod, a new electronic injector and will complete a questionnaire after 12 week of use.
- Conditions
- Growth Hormone Deficiency, Turner Syndrome, Chronic Renal Failure, Small for Gestational Age
- Trial name
- NCT00738205
- Volunteers
- 834 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
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
Turner Syndrome, Peripheral Angiopathy
AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)
Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and ovarian failure with infertility.
- Conditions
- Turner Syndrome, Peripheral Angiopathy, Vascular Malformation, Lymphedema
- Trial name
- AVAST (NCT02250456)
- Testing
- Echo doppler
- Where
- 6 sites in France
- Volunteers
- 72 people
- Sponsor
- University Hospital, Strasbourg, France
Down Syndrome, Fragile X Syndrome
Pediatric Exploratory Research Study of EGCG Use and Safety (PERSEUS)
To evaluate safety and tolerability of epigallocatechin gallate (EGCG) in children from 6 to 12 years old with Intellectual Developmental Disorders (IDD) (Down syndrome or Fragile X syndrome).
- Trial name
- PERSEUS (NCT03624556)
- Testing
- EGCG FontUp
- Where
- Spain
- Volunteers
- 76 people
- Sponsor
- Parc de Salut Mar
Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial
Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study
Turner syndrome (TS) and congenital lipodystrophy syndromes (LS) are rare conditions with major consequences on cardiometabolic health, fertility, and body morphology.
- Conditions
- Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial, Turner Syndrome
- Trial name
- LIPTURN (NCT07799012)
- Where
- France
- Volunteers
- 1,416 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fragile X Syndrome
A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome
The study will consist of a Screening period (up to 14 days), a Treatment period, and a Follow-Up period. Sixteen subjects will be enrolled into two sequential dose cohorts - 10 or 30 mg (or matching placebo) across four study…
- Trial name
- NCT01325740
- Testing
- STX107
- Where
- 5 sites in United States
- Volunteers
- 16 people
- Sponsor
- Seaside Therapeutics, Inc.
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
There will be four study periods: Screening (up to 14 days in length), the Treatment Period (8 weeks), the Withdrawal Period (22 days), and Follow-up Period (up to 31 days).
- Trial name
- Harbor-C (NCT01325220)
- Testing
- arbaclofen
- Where
- 28 sites in United States
- Volunteers
- 172 people
- Sponsor
- Seaside Therapeutics, Inc.
Klinefelter Syndrome
Subcapsular Orchiectomy in Men With Klinefelter Syndrome
Men with Klinefelter syndrome undergo unilateral subcapsular ochiectomy, and the removed testicular tissue is examined for presence of sperm and cryopreserved in small pieces for fertility treatment and scientific purposes.
- Trial name
- NCT01750632
- Testing
- Orchiectomy
- Where
- Denmark
- Volunteers
- 14 people
- Sponsor
- Odense University Hospital
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