Clinical trials: Neonatal Screening
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 (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.
Pompe Disease
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00113035
- Where
- 5 sites in United States
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Infertility, Miscarriage
Preimplantation Genetic Diagnosis (PGD) by Array Comparative Genome Hybridization (CGH) and Blastocyst Biopsy
This study evaluates the effect of single embryo transfer (SET) with and without array CGH for the evaluation of the complete chromosome complement of the blastocyst. Patients will be allocated at random into two groups.
- Trial name
- NCT01332643
- Testing
- Preimplantation Genetic Diagnosis
- Where
- Peru
- Volunteers
- 120 people
- Sponsor
- Reprogenetics
Neonatal Jaundice
Evaluation of a Smartphone-based Screening Tool for Neonatal Jaundice in a Ugandan Population
The general objective of this study is to evaluate the accuracy of a novel smartphone application that estimates bilirubin levels in newborns at HICH Mbarara.
- Trial name
- NCT05365399
- Testing
- smartphone-based screening tool for neonatal jaundice
- Where
- Uganda
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Picterus AS
Jaundice, Neonatal
Evaluation of a Smartphone-based Screening Tool (Picterus Jaundice Pro) for Neonatal Jaundice in Dark Skin Newborns
A cross-sectional study at the Södersjukehuset facility (Stockholm, Sweden) collect data of newborns from a population with Neomar scale type 4 to adjust the algorithm of Picterus JP
- Trial name
- NCT05650463
- Testing
- Picterus Jaundice Pro
- Where
- Sweden
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Picterus AS
Prenatal Screening, Pregnancy Related
Fetal Cell Analysis From Maternal Blood
The aim of this clinical study is the evaluation of clinical performance of a cell-based non-invasive test technology for fetal aneuploidies and segmental imbalances detection in a high-risk pregnancies population.
- Conditions
- Prenatal Screening, Pregnancy Related, Genetic Disease
- Trial name
- NCT05671744
- Testing
- Cell-based non-invasive prenatal testing
- Where
- Italy
- Volunteers
- 1,500 people
- Sponsor
- Menarini Biomarkers Singapore
Retinopathy of Prematurity, ROP
Automated Screening Device to Detect MTMROP
The purpose of the study is to evaluate the i-ROP DL system for autonomous ROP screening. To demonstrate the sensitivity and specificity of the i-ROP DL system on images obtained by healthcare providers in the neonatal intensive…
- Trial name
- NCT06517836
- Testing
- iROP DL
- Where
- United States
- Volunteers
- 1,284 people, healthy volunteers welcome
- Sponsor
- Siloam Vision
Trisomy 21 and Other Fetal Aneuploidy
Automated Screen for Fetal Aneuploidy
The purpose of this study is to develop and evaluate a blood test and automated microfluidic test platform for the prenatal screening of fetal aneuploidy.
- Trial name
- FAST1 (NCT03635359)
- Testing
- blood test
- Where
- 6 sites in Australia, Belgium and 4 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- BioCeryx
Genetic Disease
Digital Genetic Assistant (DGA) for Expanded Carrier Screening
The DGA provides an end-to-end digital solution to the preconception carrier screening process from participant registration to receipt of the test results and their interpretations.
- Trial name
- NCT04248504
- Testing
- Digital Genetic Assistant
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Igentify Ltd
Polyneuropathy, Amyloid, Neuropathic Pain
Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP)
An International, multicenter, epidemiological observational study investigating the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in participants with small fiber polyneuropathy of no obvious…
- Conditions
- Polyneuropathy, Amyloid, Neuropathic Pain, Cardiac Failure, Orthostatic Hypotension
- Trial name
- TRAP2-1 (NCT01705626)
- Where
- 11 sites in Austria, Hungary and 4 more
- Volunteers
- 500 people
- Sponsor
- CENTOGENE GmbH Rostock
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.
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.
Hemophilia B, Blood Coagulation Disorders, Inherited
AAV Gene Therapy Screening/Observational Protocol (ECLIPSE)
Freeline is developing adeno-associated virus (AAV) vector based gene therapies for a number of diseases and is actively advancing a programme in Haemophilia B (HB).
- Conditions
- Hemophilia B, Blood Coagulation Disorders, Inherited, Blood Coagulation Disorder, Haematologic Disease
- Trial name
- ECLIPSE (NCT04272554)
- Where
- 56 sites in United States, Australia and 10 more
- Volunteers
- 37 people
- Sponsor
- Spur Therapeutics
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.
Neonatal Jaundice
Evaluation of a Smartphone-based Screening Tool (Picterus JP) for Neonatal Jaundice (Chicago)
A cross-sectional conductive study at the University of Chicago Medicine facilities (hospital and outreach clinics) to enable high qualitative estimation of bilirubin levels in the blood of newborns, independent of skin color…
- Trial name
- NCT05521607
- Testing
- Picterus Jaundice Pro (JP)
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Picterus AS
Jaundice, Neonatal
Evaluation of a Smartphone Based Screening Tool for Neonatal Jaundice in Surabaya, Indonesia
A cross-sectional conductive study aiming to evaluate the accuracy of a novel smartphone application that estimates bilirubin levels in newborns in Surabaya.
- Trial name
- NCT05623566
- Testing
- Picterus Jaundice Pro
- Where
- 3 sites in Indonesia
- Volunteers
- 284 people, healthy volunteers welcome
- Sponsor
- Picterus AS
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.
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.
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.