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.
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.
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
Fragile X Syndrome (FXS)
Novel Clinical Target in Fragile X Syndrome
Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). The investigators wish to examine brain distribution of sigma-1 receptors in young adult males with FXS using 18F-FTC-146 PET.
- Trial name
- NCT04314856
- Testing
- 18F-FTC-146
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Guido A. Davidzon, MD, SM
Turner Syndrome, Cardiovascular Diseases
Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome
100 women with karyotype verified TS, previously examined at 4 study visits during a 19-year period will be asked to participate in a 5th study visit. Healthy age-matched females will be included as controls in a ratio 2:1.
- Conditions
- Turner Syndrome, Cardiovascular Diseases, Lymphedema, Inflammation
- Trial name
- TSCOR_V (NCT06325618)
- Testing
- No intervention other than obtaining biopsies, Indocyanine green (ICG)
- Where
- Denmark
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Turner Syndrome
Beta Cell Function in Women With Turner Syndrome
Diabetes is more frequent in women with Turner syndrome. The purpose of this study is to see, in what ways the glucose metabolism is different in this study population.
- Trial name
- NCT00419107
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- Sponsor
- Natera, 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
Fragile X Syndrome
A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
The objectives of this study are to determine the safety and tolerability of single oral doses of STX107 and to determine basic pharmacokinetic (PK) parameters following single oral doses of STX107 when administered via an oral…
- Trial name
- NCT00965432
- Testing
- STX107
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Seaside Therapeutics, Inc.
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.
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.
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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
Fragile X Syndrome
Study of Acamprosate in Fragile x Syndrome
In this research study we want to understand the effectiveness of a drug treatment, acamprosate, for interfering symptoms (i.e., inattention/hyperactivity, social impairment) associated with Fragile X Syndrome (FXS).
- Trial name
- NCT01911455
- Testing
- acamprosate
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Non Invasive Prenatal Diagnosis
NIPD on CFTC for Triplet Repeat Diseases
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the…
- Trial name
- DIACCIMEX (NCT03087526)
- Testing
- Non invasive prenatal diagnosis
- Where
- 8 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT05957549
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Down Syndrome, Intellectual Disability
Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome
By integrating sexuality and disability literatures, theories, and research methodologies, this study aims to: 1) contribute to the limited knowledge professionals have of parents as the primary sexuality educators; 2) create a…
- Conditions
- Down Syndrome, Intellectual Disability, Sexuality, Parent-Child Relations
- Trial name
- NCT03135236
- Testing
- Parent training
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation