An observational study in Microdeletion Syndromes, Trisomy 21 and Trisomy 18, sponsored by Natera, Inc.. Completed at 2 sites in United States. Per ClinicalTrials.gov, last updated 2019-08-26.
Sponsored by Natera, Inc. · Observational
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Among 204 studies in Down Syndrome with a site in United States — 47 open to participants now, 55 under way, 4 of them phase 3. Down Syndrome · United States.
Among the 204 studies in Down Syndrome with a site in United States, this one is the 44th largest by enrollment of the 74 observational ones that give a count, is one of 8 that started in 2012, is one of 74 observational ones, and was the 62nd registered.
438 studies on the registry are indexed under Down Syndrome; 99 are open to participants now.
Browse Down Syndrome studies →47 of the 204 studies in Down Syndrome with a site in United States are open now. Recruiting first, the newest first:
Alnylam Pharmaceuticals · Sites in United States, Spain
Ages 40–55
Ohio State University · Sites in United States
Ages 5–12
National Institute of Allergy and Infectious Diseases (NIAID) · Sites in United States
Ages 1–120 · Healthy volunteers
University of Colorado, Denver · Sites in United States
Ages 6–22
RTI International · Sites in United States
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 75 Down Syndrome studies recruiting now, 14 (19%) set no upper age limit and 58 (77%) stop at 75 or younger; 61 take children under 18; 19 take healthy volunteers.
This study: all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
204 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 11 · Phase 2 26 · Phase 3 10 · Phase 4 5
First in 1981; this study’s year is marked. 8 started in 2012.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 216 is above the median of 158 across 145 observational studies indexed under Down Syndrome.
Median enrollment 40 across the 130 interventional studies, 433 across the 74 observational. Of the 139 that completed or were terminated, 42 (30%) have results posted.
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47 of 204 have an industry lead sponsor. The 10 most frequent:
Natera, Inc. is the lead sponsor of 36 studies on the registry; 11 are open to participants now.
Natera, Inc. has 8 studies filed under Down Syndrome — fewer than ten, so there is no comparison to draw.
14 of the studies in Down Syndrome with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT03914625Phase 3National Cancer Institute (NCI)A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic Leukemia | 2027-09-30 |
| NCT04278404Duke UniversityPharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children Per Standard of Care (POPS) | 2026-11 |
| NCT07008989Boston CollegeA VIRTUAL Three-month Intervention Study of the Effects of a Smartphone Application (HippoCamera) on Memory in Teens and Young Adults With Down Syndrome | 2026-12-31 |
| NCT05196984Massachusetts Institute of TechnologyGamma Frequency Stimulation in Individuals With Down Syndrome | 2026-12-31 |
| NCT03233646Duke UniversityRetinal Imaging in Neurodegenerative Disease | 2026-12-31 |
Add all 14 to your calendar (.ics) → With an account.
Among the 204 studies in Down Syndrome with a site in United States, from their registry updates:
This tab as a report to print or save as PDF → With an account.
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 fetal DNA isolated from maternal blood.
The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication (MD/D) syndrome to further develop non-invasive prenatal testing based on fetal DNA isolated from maternal blood. To assist with the development of the test, we will need to collect blood samples from women whose child was diagnosed with a genetic or MD/D syndrome, a blood sample from that child as well as a blood sample from their confirmed unaffected siblings. Since the test is based on Natera's Parental Support™ technology, buccal or blood samples from the biological fathers will also be requested.
A recent abstract from a five year study on prenatal microarray testing revealed that 1.6% of women who present for routine prenatal indications have a positive microarray test. With the frequency of microdeletions and microduplications (MD/D) now known to be higher than previously thought, the field is likely to move toward offering invasive testing for microarray abnormalities to all pregnant women. Although non-invasive prenatal testing for aneuploidy is now clinically available, it has become clear that non-invasive prenatal testing for MD/D is equally important. However, access to these samples is made difficult as the standard of care for offering microarray analysis to all pregnant women will take time to come to fruition. We would like to develop this non-invasive as the standard of care so that less women will have to undergo invasive testing for the diagnosis of microarray abnormalities. Thus, there is an unmet need for the development of novel tests that would increase the scope of non-invasive prenatal screening.
Families with a child affected by a chromosomal abnormality.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion criteria:
Families with child affected by genetic anomaly, microdeletion, microduplication, or chromosomal anomaly
Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus
Time frame: 4 years
Ran from Oct 2012 to primary completion in Jun 2019, 80 months.
Of 55 observational studies under Down Syndrome, half reached primary completion within 34 months of starting (the median), counting those still running; a quarter within 19 and three quarters within 80. This study's 80 months is above that.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Aug 2019. You cannot join it, but the record below documents what was studied.
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