An observational study in Trisomy 21, Trisomy 18 and Trisomy 13, sponsored by Women and Infants Hospital of Rhode Island. Completed at 1 site in United States. Open to female participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2018-02-22.
Sponsored by Women and Infants Hospital of Rhode Island · Observational
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 52nd largest by enrollment of the 74 observational ones that give a count, is one of 10 that started in 2014, is one of 74 observational ones, and was the 60th 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
Ohio State University · Sites in United States
National Institute of Allergy and Infectious Diseases (NIAID) · Sites in United States
University of Colorado, Denver · Sites in United States
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: 18 Years and older · female · 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. 10 started in 2014.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 100 is below 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:
Women and Infants Hospital of Rhode Island is the lead sponsor of 93 studies on the registry; 25 are open to participants now.
Women and Infants Hospital of Rhode Island has 3 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 |
Among the 204 studies in Down Syndrome with a site in United States, from their registry updates:
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This study will explore how maternal plasma circulating cell free DNA (ccfDNA) can be used as a primary screening test for Down syndrome as part of routine clinical care in the general pregnancy population. Plasma ccfDNA testing is currently recommended only for use as a secondary screen for 'high-risk' women (i.e., women whose risk factors for trisomy make them candidates for invasive testing such as chorionic villous sampling or amniocentesis). Because most women in this 'high-risk' category are carrying unaffected fetuses, many 'unnecessary' procedures are completed in order to identify the few women whose fetuses have a chromosomal disorder. This creates expense, anxiety, and most importantly, loss of unaffected fetuses due to procedure related miscarriage. Plasma DNA testing is now being used to reduce significantly the number of women with unaffected fetuses undergoing invasive testing.
Applying such testing as a 'first-line' screen has not been well-explored, despite calls from several clinical professional societies to do so. The investigators intent is to introduce, under carefully monitored conditions, ccfDNA testing through Rhode Island primary prenatal practices to the general pregnancy population. Education/orientation of prenatal care providers, their staffs, and their patients will be carefully orchestrated, and implementation issues identified and addressed. Telephone surveys of consented patients will elicit responses to their understanding of the test, their satisfaction with the process, and a comparison of their experience with serum screening in a prior pregnancy. Knowledge gained from this study will help validate new screening paradigms involving ccfDNA testing. The study is not designed to estimate Down syndrome detection rates with any confidence, but can provide information on uptake rates, failure rates, screen positive rates, and the decision-making of women with positive test results.
Maternal plasma ccfDNA testing examines fragments of maternal and fetal (placental) DNA that are normally found in the mother's circulation. For any targeted chromosome (e.g., chromosome 21) an excess of fragments from that chromosome can strongly suggest trisomy in the fetus (e.g., trisomy 21 or Down syndrome). This technology has been available since late 2011 but is mainly offered in the 'high-risk setting with motivated patients, intensive education by genetic counselors and maternal-fetal medicine professionals, and low patient volumes. As a secondary screening test in high-risk women, this testing can reduce the frequency of invasive procedures by 90% or more compared to conventional serum screening. Since CVS and amniocentesis are associated with procedure-related fetal loss (an important factor among women refusing these procedures), the use of ccfDNA testing may result in an increase in the prenatal identification of affected fetuses in the high-risk population. However, this technology has not been studied in the general risk group where women usually have no known risk factors when presenting for prenatal care. The investigators' aim is to observe how prenatal practices in Rhode Island are able to offer this technology in place of conventional serum/ultrasound screening as early as 10 weeks of pregnancy. The investigators expect that clinicians and office staff will be challenged by this paradigm shift, as will their patients. The investigators intend to develop an education program for offices and introduce the new test - DNAFirst- methodically in the Women \& Infants Hospital catchment area. The test uptake rate, reaction to its availability, and response to screen positive results will be monitored, along with other measures relevant to implementation and test performance. The investigators also will be surveying by telephone 100 women who have agreed to DNAFirst testing and to being contacted to determine their understanding of and satisfaction with the new test. Many factors may complicate this introduction and these will all need to be addressed. For example, a screen positive result on the DNAFirst test is associated with a much higher risk of aneuploidy(e.g., 1:2) than conventional serum screening. The DNAFirst test is also associated with a higher rate of test failure than serum screening. The DNAFirst testing protocol includes testing a buccal sample from the father of the baby when available. It will be important to gauge how offices and patients perceive and accept these changes.
Secondary screening in high-risk women using ccfDNA is becoming more commonplace and is more often covered by insurers. With expected price reductions due to improvements in sequencing technology, it is likely that in 12-18 months, insurance coverage for ccfDNA testing will become more routine. In such a setting expected test uptake and patient decision-making would not be influenced by the limited insurance currently available. The investigators want to simulate the patient's cost of ccfDNA testing to be similar to that currently encountered for serum screening. Towards that end, Natera, Inc., a Clinical Laboratory Improvement Act certified laboratory in San Carlos, California, has agreed to underwrite the cost of ccfDNA testing during the study period. By identifying factors influencing patient acceptance and understanding how patients and providers view this new paradigm compared to established serum and sonographic screening, this project will provide unbiased evidence regarding implementation of ccfDNA testing in a general pregnancy population that could translate into nationwide practice.
Women with a singleton pregnancy at 10 weeks or later who agree to be contacted by telephone to provide consent and participate in a structured survey to assess comprehension and satisfaction with their experience.
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:
Women who opted for DNAFirst testing and who provided written permission (attested by signature and provision of telephone number)for DNAFirst Study staff to telephone them and conduct a brief telephone survey about their experiences.
Patient satisfaction with ccfDNA testing as a primary screen for aneuploidy
A telephone survey will be administered to women who have undergone ccfDNA testing (DNAFirst) and who have provided written permission to be contacted specifically for this purpose.Included will be questions designed to elicit understanding of the results, implications of positive and negative results, comparison with earlier serum-screening experience, and reasons for accepting/declining ancillary testing (sex aneuploidy).
Time frame: within 90 days of receiving ccfDNA screening results
The record gives a start of Jun 2014, a primary completion of Jul 2015 and a completion of Dec 2015. It does not say whether these dates are actual or estimated.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Feb 2018. You cannot join it, but the record below documents what was studied.
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Women and Infants Hospital of Rhode Island