Down SyndromeCHARMM-APNCT01052688
Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies
An observational study of Down Syndrome and Aneuploidy, run by Sequenom, Inc. at 10 sites in United States.
Trial summary
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 women who are pregnant with a fetus previously determined to have a chromosomal abnormality. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Down Syndrome, Aneuploidy
- What is being tested?
- Maternal blood draw of 30 to 50ml
- How many people
- 150 participants
- Where
- 10 sitesUnited States
- Study dates
- Nov 2009to 31 Aug 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Pregnant women who have been definitively diagnosed by amniocentesis, CVS or QF/PCR as carrying a fetus with aneuploidy
Who may be able to join
- Subject is female
- Subject is 18 years or older
- Subject is no less than 8 and no more than 36 weeks gestation
- Subject provides a signed and dated informed consent
- Subject agrees to provide one or more 30-50mL blood sample(s) in accordance with the protocol
- Subject has a current pregnancy in which the fetus is known to have chromosomal aneuploidy (e.g. T13, T18, T21)
Who cannot join
- Non-singleton pregnancy in which only one fetus is known to have a chromosomal aneuploidy
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
United States10 sites
Spectrum Health
Grand Rapids, Michigan, 49503
Fetal Diagnostic Institute of the Pacific
Honolulu, Hawaii, 96814
Perinatal Care Associates
Phoenix, Arizona, 85013
St. Joseph's Hospital and medical Center
Phoenix, Arizona, 85013
Women and Infants Hospital of Rhode Island
Providence, Rhode Island, 02902-2499
Sharp Grossmount
San Diego, California, 91944
IGO
San Diego, California, 92121
San Diego Perinatal Center
San Diego, California, 92123
Women's Healthcare at Frost Street
San Diego, California, 92123
Reiter, Hill, Johnson and Nevin
Washington D.C., District of Columbia, 20036
About this study
Official title: Noninvasive Screening for Fetal Chromosomal Aneuploidy and Abnormality: 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 women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD result will be compared to the standard test results obtained from other test methods such as karyotype, FISH, QF-PCR, and/or any commercially available NIPD test.
- Conditions
- Down Syndrome, Aneuploidy
- Being tested
- Maternal blood draw of 30 to 50ml
- Keywords
- Down syndrome, aneuploidy, amniocentesis, chorionic villus sampling, Trisomy
- Medical subject headings
- Down Syndrome, Aneuploidy, Trisomy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Maternal blood draw of 30 to 50mlOther
Maternal blood draw of 30 to 50mls during pregnancy. Blood may be drawn up to 5 times during the pregnancy between weeks 8 and 36 gestation.
| Study group | Role | What they receive |
|---|---|---|
| Pregnant Women | Pregnant women who have been definitively diagnosed as carrying a fetus with aneuploidy. Receives: Other: Maternal blood draw of 30 to 50ml |
What is being measured
The primary outcome is the main question the study is designed to answer.
NIPD result compared to standard test results
Result of NIPD test will be compared to the standard test results obtained by karyotype, FISH, QF-PCR, and/or commerical NIPD result.
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jan 2010 (estimated)
- Study startNov 2009
- Primary completion31 Aug 2021
- Study completion31 Aug 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sequenom, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Juan-Sebastian Saldivar, M.D., Study director, Sequenom, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01052688
- Sponsor's protocol ID
- SQNM T21-305
- Acronym
- CHARMM-AP
- Status last verified
- Apr 2020
- First submitted
- 15 Jan 2010
- Last updated
- 20 Sep 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No: Samples and data are used in research and development of a noninvasive prenatal test. However, sample data used in publications will be shared as per requirements of the journal.
Study at a glance
From the registry record, last updated by the sponsor on 20 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Noninvasive Screening for Fetal Chromosomal Aneuploidy and Abnormality: Assay Development & Optimization in Affected Pregnancies
- ClinicalTrials.gov ID
- NCT01052688
- Acronym / sponsor ID
- CHARMM-AP / SQNM T21-305
- Conditions
- Down Syndrome, Aneuploidy
- Keywords
- Down syndrome, aneuploidy, amniocentesis, chorionic villus sampling, Trisomy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 150 participants (actual)
- Lead sponsor
- Sequenom, Inc.Industry (pharma, biotech, devices)
- Study start
- Nov 2009
- Primary completion
- 31 Aug 2021 (actual)
- Study completion
- 31 Aug 2021 (actual)
- First posted
- 20 Jan 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD result will be compared to the standard test results obtained from other test methods such as karyotype, FISH, QF-PCR, and/or any commercially available NIPD test.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnant Women | – | Other: Maternal blood draw of 30 to 50mlPregnant women who have been definitively diagnosed as carrying a fetus with aneuploidy. |
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pregnant women who have been definitively diagnosed by amniocentesis, CVS or QF/PCR as carrying a fetus with aneuploidy
Key inclusion criteria (6 listed)
- Subject is female
- Subject is 18 years or older
- Subject is no less than 8 and no more than 36 weeks gestation
- Subject provides a signed and dated informed consent
- Subject agrees to provide one or more 30-50mL blood sample(s) in accordance with the protocol
Key exclusion criteria (1 listed)
- Non-singleton pregnancy in which only one fetus is known to have a chromosomal aneuploidy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Maternal blood draw of 30 to 50mlMaternal blood draw of 30 to 50mls during pregnancy. Blood may be drawn up to 5 times during the pregnancy between weeks 8 and 36 gestation. | Other | Pregnant Women |
Primary outcome
NIPD result compared to standard test results
Time frame: baseline
Result of NIPD test will be compared to the standard test results obtained by karyotype, FISH, QF-PCR, and/or commerical NIPD result.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Sep 2021.
- Individual participant dataSharing planned: No. Samples and data are used in research and development of a noninvasive prenatal test. However, sample data used in publications will be shared as per requirements of the journal.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Juan-Sebastian Saldivar, M.D. study director
Sequenom, Inc.
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome and Aneuploidy, run by Sequenom, Inc. at 10 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 20 Sep 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
NIPD result compared to standard test results (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Sep 2021.