Clinical trials: Sex Chromosome Abnormalities
Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy
Non-invasive Prenatal Diagnostic Validation Study
The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.
- Conditions
- Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations
- Trial name
- NIPD (NCT01574781)
- Testing
- Blood draw, Cheek swab/Saliva Sampling
- Where
- United States
- Volunteers
- 1,781 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Fragile x Syndrome
Ganaxolone Treatment in Children With Fragile X Syndrome
This Phase 2 proof-of-concept study is a double-blind, randomized, placebo-controlled, crossover study to investigate ganaxolone treatment in children with fragile x syndrome (FXS).
- Trial name
- NCT01725152
- Testing
- Ganaxolone
- Where
- 2 sites in United States, Belgium
- Volunteers
- 59 people
- Sponsor
- Marinus Pharmaceuticals
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
Intellectual Disability, Fragile X Syndrome
Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
This study is a randomized, double-blind, placebo-controlled, crossover trial of extended-release liquid methylphenidate (XRMPH) to evaluate the sensitivity of the NIH Toolbox Cognition Battery (NIHTB-CB) to changes in cognition…
- Conditions
- Intellectual Disability, Fragile X Syndrome, Down Syndrome, Attention Deficit Hyperactivity Disorder
- Trial name
- NCT05301361
- Testing
- Methylphenidate Oral Solution
- Where
- 3 sites in United States
- Volunteers
- 68 people
- Sponsor
- University of California, Davis
Fragile X Syndrome
Biomarker and DNA Collection in Subjects Participating in Protocol 22003
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22003 will be offered participation in 22003A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00892580
- Testing
- STX209
- Where
- 8 sites in United States
- Volunteers
- 32 people
- Sponsor
- Seaside Therapeutics, Inc.
Male Factor Infertility, Female Factor Infertility
The Clinical Study of Sex Chromosome Variants
Purpose/Lay Summary: Background: Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the sex chromosomes are known to cause various diseases, such as infertility…
- Trial name
- NCT01661010
- Where
- United States
- Volunteers
- 112 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Safety and Efficacy of Long-term Somatropin Treatment in Children
This study is conducted in Europe. The aim of this study is to evaluate safety during the long-term use of somatropin (Norditropin®) in children as well as efficacy on change in height.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Foetal Growth Problem, Small for Gestational Age
- Trial name
- GrowthWIN II (NCT01543867)
- Testing
- somatropin
- Where
- Germany
- Volunteers
- 5,442 people
- Sponsor
- Novo Nordisk A/S
Trisomy 13, Trisomy 18
Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic 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
- NCT02278536
- Where
- 8 sites in United States, India and 1 more
- Volunteers
- 354 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Fragile X Syndrome
Trial of Minocycline to Treat Children With Fragile X Syndrome
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant.
- Trial name
- NCT01053156
- Testing
- minocycline hydrochloride
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- University of California, Davis
Developmental Disabilities, Fragile X Syndrome
Teaching Math Skills to Individuals With Fragile X Syndrome
Children with FXS are predisposed to manifesting a particular profile of intellectual strengths and weaknesses, including specific deficits in math, visual-spatial skills, executive functioning, and social skills.
- Trial name
- NCT01204151
- Testing
- discrete-trial training
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
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
X Fragile Syndrome
Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome
The purpose of this study is to determine vitamin C and vitamin E in combination are effective in the treatment of cognitive and behavior disorder in children with fragile X syndrome.
- Trial name
- SXF2-8 (NCT02942498)
- Testing
- Vitamin C 10mg/Kg Vitamin E 10 mg/Kg
- Where
- Spain
- Volunteers
- 34 people
- Sponsor
- Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud
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
Fragile X Syndrome
Metformin in Patients With Fragile X
The purpose of this trial is to investigate the use of metformin in the treatment of Fragile X syndrome (FXS) patients. Metformin is an FDA approved compound with an established safety profile and minimal side effects that…
- Trial name
- NCT04141163
- Testing
- Metformin
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Rowan University
Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS)
The Neurocognitive Bases of Trust in Intellectual Disability
This project studies the neurocognitive basis of trust adjustment in intellectual disability (ID), a source of significant vulnerability for these patients, focusing on two target populations chosen for their specific social…
- Trial name
- BNConfDI (NCT07434037)
- Testing
- Confidence adjustment assessment, clinical assessment, Cognitive assessment
- Where
- France
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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
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.
Fragile X Syndrome
Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS
ZYN002 is a pharmaceutically manufactured Cannabidiol that is developed as a clear gel that can be applied to the skin (called transdermal delivery).
- Trial name
- NCT03802799
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 26 sites in United States, Australia and 2 more
- Volunteers
- 476 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.