Clinical trials: Trisomy 21
Down Syndrome, Edwards Syndrome
Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Trial name
- NCT02226315
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sequenom, Inc.
Pregnancy, Aneuploidy
Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
The purpose of this study is to collect samples for the purpose of developing a prenatal aneuploid test using circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have a high-risk pregnancy…
- Conditions
- Pregnancy, Aneuploidy, Down Syndrome, Edwards Syndrome
- Trial name
- NCT00971334
- Where
- 35 sites in United States, France
- Volunteers
- 2,502 people
- Sponsor
- Sequenom, Inc.
Alzheimer Disease, Down Syndrome
Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD)
The primary purpose of this study is to evaluate the safety and tolerability of ION269 in adults with Down syndrome with evidence of brain amyloid positivity.
- Trial name
- NCT06673069
- Testing
- ION269
- Where
- 6 sites in United States, Spain
- Volunteers
- 1 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Down Syndrome, Edwards Syndrome
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02787486
- Testing
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Where
- 8 sites in United States
- Volunteers
- 760 people
- Sponsor
- Progenity, 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.
Down Syndrome
Non-drug Study to Evaluate the Suitability of Neurocognitive Tests and Functioning Scales for the Measurement of Cognitive and Functioning Changes in Children With Down Syndrome
The aim of this study is to assess the suitability of selected scales (floor/ceiling effects, variability, test-retest reliability) to measure cognitive function in children with Down syndrome over 6 months, and to evaluate the…
- Trial name
- NCT02451657
- Testing
- No Intervention
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 40 people
- Sponsor
- Hoffmann-La Roche
Trisomy 21
Non-invasive Chromosomal Examination of Trisomy Study
The purpose of this blinded, multi-center, prospective, case-controlled study is to compare the Ariosa Harmony™ Prenatal Test for trisomy 21 detection with a standard first-trimester prenatal screening test consisting of serum…
- Trial name
- NEXT (NCT01511458)
- Where
- 36 sites in United States, Belgium and 4 more
- Volunteers
- 18,955 people
- Sponsor
- Roche Sequencing Solutions
Aneuploidy, Down Syndrome
Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored…
- Conditions
- Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
- Trial name
- NCT01597063
- Testing
- SEQureDx Trisomy Test
- Where
- 27 sites in United States
- Volunteers
- 3,333 people
- Sponsor
- Sequenom, Inc.
Healthy Volunteer, Down Syndrome
A Molecular and Functional Brain Imaging Study in Individuals With Down Syndrome and Healthy Controls Following Single Dose RG1662
This single-center, single-blind, placebo-controlled, parallel-group study with crossover component will evaluate the GABAAalpha5 receptor expression, occupancy and functional connectivity in the brains of individuals with Down…
- Trial name
- NCT01667367
- Testing
- RG1662
- Where
- United Kingdom
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Down Syndrome, Fetal Aneuploidy
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
- Trial name
- NCT01429389
- Where
- 14 sites in United States, Canada
- Volunteers
- 2,000 people
- Sponsor
- Sequenom, Inc.
Down Syndrome, Edwards Syndrome
Non-Invasive Screening for Fetal Aneuploidy
The purpose of this study is to detect whole chromosome abnormalities in maternal blood.
- Trial name
- NCT02317965
- Testing
- Maternal Blood Draw
- Where
- 10 sites in United States
- Volunteers
- 340 people
- Sponsor
- Progenity, 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.
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.
Down Syndrome (Trisomy 21)
AEF0217 in Participants With Down Syndrome
The goal of this clinical trial is to identify if AEF0217 show an improvement in adaptive behaviors (daily life activities) in adults and older adolescents with Down Syndrome. It will also learn about the safety of AEF0217.
- Trial name
- NCT07334912
- Testing
- AEF0217 100 µg, AEF0217 300 µg
- Where
- 10 sites in France, Italy and 1 more
- Volunteers
- 188 people
- Sponsor
- Aelis Farma
Pregnancy, Down Syndrome
Comparison of Aneuploidy Risk Evaluations
This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in…
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome
- Trial name
- CARE (NCT01663350)
- Where
- 26 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Verinata Health, Inc.
Aneuploidy
National Prevalence and Impact of Noninvasive Prenatal Testing
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the…
- Trial name
- NCT02284399
- Testing
- non-invasive prenatal testing
- Where
- 7 sites in United States
- Volunteers
- 4,488 people, healthy volunteers welcome
- Sponsor
- Obstetrix Medical Group
Aneuploidy, Trisomy 21
Prenatal Test for Fetal Aneuploidy Detection
The purpose of this study is to develop and evaluate a blood test for pregnant women for detection of fetal aneuploidy.
- Trial name
- NCT01256606
- Where
- 6 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Roche Sequencing Solutions
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.
Down Syndrome (Trisomy 21)
Qualitative Effects of AEF0217 in Down Syndrome People
Following the AEF0217-102 trial (NCT05748405), which investigated the effects of AEF0217 versus placebo, participants with Down syndrome and their caregivers who took part in the trial are invited to share their perceptions of…
- Trial name
- NCT07413224
- Where
- Spain
- Volunteers
- 28 people
- Sponsor
- Aelis Farma
Respiratory Syncytial Virus Infections
A Study to Assess Safety, Pharmacokinetics Anti-Drug Antibody and Anti-RSV Antibody After 2 Doses of Nirsevimab
The purpose of this study is to measure the safety, PK, occurrence of ADA to nirsevimab, and anti-RSV neutralizing Ab in Japanese children with certain health conditions or pre-term infants aged ≤12 months.
- Trial name
- JUBILUS (NCT06042049)
- Testing
- Nirsevimab
- Where
- 9 sites in Japan
- Volunteers
- 33 people
- Sponsor
- AstraZeneca