Clinical trials: Chromosomal Aneuploidies
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)
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
Chromosome Aberrations
The Relationship Between Fetal Membrane Thickness and Fetal Chromosomal Aneuploidies
This observational study aims to recruit pregnant women between 18 to 24 weeks of gestation to investigate the relationship between amniotic membrane thickness and fetal chromosomal abnormalities.
- Trial name
- PLACE2102 (NCT06141213)
- Testing
- Ultrasound screening
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Tianjin Central Hospital of Gynecology Obstetrics
Aneuploidy, Pregnancy
The Effect of Co Enzyme Q10 Together With Fertility Drugs on Pregnancy Outcome of in Vitro Fertilization
The goal of our research is to increase live birth rates in infertile women and to reduce the incidence of aneuploidy leading to miscarriage and trisomies.
- Conditions
- Aneuploidy, Pregnancy, Miscarriage
- Trial name
- CoQ10-IVF (NCT01048385)
- Testing
- Coenzyme Q10 concomitant treatment
- Where
- Canada
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Aneuploidy
Aneuploidy Rates of in Vitro Matured Oocytes
In general, nearly 85% of retrieved oocytes are mature and reproductively useful after the retrieval, whereas the remaining percentage are still at metaphase I or germinal vesicle stage (MI: 4% and GV: 11 %, respectively).
- Trial name
- IVM (NCT03860064)
- Testing
- Non intervention
- Where
- Spain
- Volunteers
- 60 people
- Sponsor
- IVI Barcelona
Infertility
PICSI Impact on Euploidy in Assisted Reproduction
Hyaluronic acid (HA) is a major component of the cumulus complex surrounding oocytes. Intracytoplasmic sperm injection (ICSI) involves injection of a selected sperm into the oocyte.
- Trial name
- NCT06602687
- Testing
- PICSI
- Where
- Ireland
- Volunteers
- 142 people
- Sponsor
- Merrion Fertility Clinic
Aneuploidy, Chromosome Abnormality
RCT Study to Validate niPGT-A Clinical Benefit.
Chromosomal aneuploidies are linked with spontaneous miscarriages and abnormal offspring in human pregnancies. In addition, some types of aneuploidies are reported to prevent implantation.
- Conditions
- Aneuploidy, Chromosome Abnormality, Infertility
- Trial name
- niPGT-A_RCT (NCT04000152)
- Testing
- niPGT-A, Morphology criteria
- Where
- 8 sites in Argentina, Brazil and 3 more
- Volunteers
- 296 people
- Sponsor
- Igenomix
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
Embryo/Fetus Death, Blastocyst Disintegration
Assessment of Implantation Potential of Embryos by Time-lapse Technology
1. Culture conditions of developing embryos are highly controlled in the Embryoscope and are monitored by Time-lapse videography to produce 3D images at different stages.This cannot be done under conventional culture conditions.
- Conditions
- Embryo/Fetus Death, Blastocyst Disintegration, Aneuploidy, Complication of Implant
- Trial name
- Embryoscope (NCT01760278)
- Testing
- recombinant Follicle Stimulating Hormone (rFSH)
- Where
- India
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Bloom IVF and Fertility Centre
Infertility (IVF Patients)
Pilot Study of Discarded Blastocysts
The goal of this observational study is to determine multiomics patterns related to global embryo quality to help overcome the limitations of conventional embryo quality assessment.
- Trial name
- DECODE (NCT07429097)
- Testing
- Multiomics analysis
- Where
- Norway
- Volunteers
- 150 people
- Sponsor
- Igenomix
Aneuploidy, Chromosome Abnormality
Multi-center Study to Validate niPGT-A
Abnormal chromosome number, or aneuploidy, is common in human embryos. It is responsible for more than half of all miscarriages, and it is the leading cause of congenital birth defects.
- Conditions
- Aneuploidy, Chromosome Abnormality, Infertility
- Trial name
- niPGT-A (NCT03520933)
- Testing
- PGT-A, niPGT-A
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 2,586 people
- Sponsor
- Igenomix
Down Syndrome, Fetal Aneuploidy
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Trial name
- NCT01555346
- Where
- 29 sites in United States, Canada
- Volunteers
- 3,062 people
- Sponsor
- Sequenom, Inc.
Infertility
Influence of a Prematuration Culture With a Phosphodiesterase-3 Inhibitor (PDE3-I) on Embryonic Aneuploidy Rate and Developmental Potential
A single centre randomised controlled trial investigating the influence of a novel prematuration system (PMS) using a phosphodiesterase-3 inhibitor for in-vitro maturation of oocytes - pilot study.
- Trial name
- NCT00822874
- Testing
- prematuration culture
- Where
- Belgium
- Volunteers
- 115 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
Aneuploidy, Pregnancy Complications
Use of a Novel Computerized Decision Aid for Prenatal Aneuploidy Screening
The investigators aim to assess whether use of a novel, tablet-based computerized decision aid for aneuploidy screening is similar to routine care with a brief genetic counseling visit in improving patient knowledge and…
- Trial name
- DAAS (NCT02991729)
- Testing
- iPad-based decision aid, Genetic counseling appointment
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Down Syndrome, Trisomy 18
VAlidation of a Lower Cost aneUploidy scrEen
This study will document the detection rate and false positive rate as well as failure rate of a new prenatal screening approach ('Smart NIPT') as described at www.vanadisdx.com and implemented in an academic laboratory with…
- Conditions
- Down Syndrome, Trisomy 18, Trisomy 13
- Trial name
- VALUE (NCT03087357)
- Testing
- SmartNIPT
- Where
- 16 sites in United States, Canada and 1 more
- Volunteers
- 2,443 people
- Sponsor
- Women and Infants Hospital of Rhode Island
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
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.
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
Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18)
Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.
- Conditions
- Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome
- Trial name
- NCT00770458
- Where
- 7 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Sequenom, Inc.
Autosomal Aneuploidy
Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)
The study is promoted by the Emilia Romagna Region which identified in the Bologna AUSL the coordinating center (Unità Operativa Complessa Laboratorio Unico Metropolitano, LUM, Maggiore Hospital).
- Trial name
- SAPERER (NCT04437992)
- Testing
- NIPT
- Where
- Italy
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- Azienda Usl di Bologna