Clinical trials: Multiple Anomalies of Fetus
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
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.
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.
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
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.
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
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.
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.
Pulmonary Hypertension, Familial Persistent, of the Newborn
A Study To Evaluate Safety And Efficacy Of IV Sildenafil In The Treatment Of Neonates With Persistent Pulmonary Hypertension Of The Newborn
This study will evaluate whether IV sildenafil can reduce the time on inhaled nitric oxide treatment and reduce the failure rate of available treatments for persistent pulmonary hypertension of the newborn.
- Trial name
- NCT01720524
- Testing
- iv sildenafil
- Where
- 42 sites in United States, Belgium and 10 more
- Volunteers
- 59 people
- Sponsor
- Pfizer's Upjohn has merged with Mylan to form Viatris 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.
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.
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 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.
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.
Anemia, Sickle Cell
Study to Determine the Maximum Tolerated Dose, Safety and Effectiveness of Pomalidomide for Patients With Sickle Cell Disease
The purpose of the study is to determine the maximum tolerated dose, safety and effect on induction of fetal hemoglobin of pomalidomide in patients with Sickle Cell Disease.
- Trial name
- SCD-001 (NCT01522547)
- Testing
- pomalidomide
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Celgene
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
Pregnant Women, Prenatal Care
MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy
The primary objective of this study is to determine the performance characteristics (sensitivity and specificity) of the Verinata Health Test to detect fetal Trisomy 21 (T21) compared to karyotype results obtained by…
- Trial name
- MELISSA (NCT01122524)
- Where
- 11 sites in United States
- Volunteers
- 10,000 people
- Sponsor
- Verinata Health, 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
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.