Clinical trials: Chromosomal Aneuploidies
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.
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
Down Syndrome, Aneuploidy
Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies
To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from…
- Trial name
- CHARMM-AP (NCT01052688)
- Testing
- Maternal blood draw of 30 to 50ml
- Where
- 10 sites in United States
- Volunteers
- 150 people
- Sponsor
- Sequenom, Inc.
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.
Klinefelter Syndrome
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition.
- Trial name
- NCT02408445
- Testing
- testosterone cypionate 200mg/ml
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Colorado, Denver
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, 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
Infertility, Aneuploidy
Anti-Müllerian Hormone and Embryo Aneuploidy
The goal of this observational study is to determine is there an association between the rates of aneuploidy and the different ranges of serum Antimullerian hormone (AMH) levels.
- Trial name
- NCT05723016
- Testing
- preimplantation genetic test for aneuploidies (PGT-a)
- Where
- Chile
- Volunteers
- 300 people
- Sponsor
- Clinica de la Mujer Medicina Reproductiva, Chile
Aneuploidy
Danish Prognostic Research on Embryonic Diagnostics Involving Chromosomal Testing.
The study aim is to evaluate whether testing embryos for chromosomal abnormalities (known as aneuploidy) can aid in embryo selection.
- Trial name
- DanPREDICT (NCT06915311)
- Where
- Denmark
- Volunteers
- 220 people
- Sponsor
- Christian Liebst Frisk Toft
Aneuploidy, NIPT
A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood
A diagnostic peripheral maternal blood test taken and the free foetal DNA is analysed and the presence of trisomies using a novel method.
- Trial name
- IONA (NCT01472523)
- Where
- United Kingdom
- Volunteers
- 1,632 people
- Sponsor
- Premaitha Health
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
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- IVF008 (NCT01023048)
- Testing
- preimplantation diagnosis
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Developmental Delay Disorders, Chromosome Deletion
Treatment Strategies for Children With Smith-Magenis Syndrome
This study will examine the effect of bright light or melatonin treatment on sleep in children with Smith-Magenis syndrome (SMS), a genetic disorder characterized by certain physical, behavioral and developmental features.
- Conditions
- Developmental Delay Disorders, Chromosome Deletion, Mental Retardation, Sleep Disorders, Circadian Rhythm
- Trial name
- NCT00506259
- Testing
- dTR Melatonin (NIH CC PDS), Phototherapy (Bright Light), Melatonin CR
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
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
Phelan-McDermid Syndrome
Mitochondrial Dysfunction in Phelan-McDermid Syndrome
The purpose of this study is to determine whether a relationship exists between gene deletion(s) specific to the mitochondrial electron transport chain and presentation of clinical characteristics in patients with Phelan-McDermid…
- Trial name
- NCT02000167
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- University of Arkansas
Infertility, Mosaicism
Non-Euploid Embryo Transfer (NEET) Registry
The NEET Registry is a registry to track and study the outcomes of non-euploid embryo transfers (NEET) in The Prelude Network
- Conditions
- Infertility, Mosaicism, Aneuploidy
- Trial name
- NCT07036536
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Inception Fertility Research Institute, LLC
Infertility, Genetic Disease
Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing
Infertile women attending for PGT at the Centre of Assisted Reproduction and Embryology, Queen Mary Hospital and Kwong Wah Hospital will be recruited during ovarian stimulation for IVF.
- Conditions
- Infertility, Genetic Disease, Chromosomal Rearrangement, Aneuploidy
- Trial name
- NCT06023472
- Testing
- microfluidic chip, density gradient centrifugation
- Where
- China
- Volunteers
- 318 people
- Sponsor
- Professor Ernest Hung-Yu Ng
Complex Aneuploidy, Chaotic Aneuploidy
Evaluating the Status of Complex Aneuploidy to Locate Additional Transferrable Embryos
This study aims to evaluate the reproductive potential of embryos classified as "complex aneuploid" (involving three or more abnormal chromosomes) or "chaotic" (six or more abnormal chromosomes) through preimplantation genetic…
- Trial name
- ESCALATE (NCT07227116)
- Where
- 12 sites in United States, Chile
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Shady Grove Fertility Reproductive Science Center
Down Syndrome, Chromosome Abnormalities
Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters
Too much or too little genetic information (chromosome material) can cause abnormal development of the fetus or death. Each year approximately 2.5 million pregnant women are screened for Down Syndrome using invasive screening…
- Trial name
- NCT00006445
- Testing
- Ultrasound, Serum screen
- Where
- 10 sites in United States
- Volunteers
- 38,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)