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Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies (CHARMM-AP)
This study is currently recruiting participants.
Verified April 2016 by Sequenom, Inc.
Sponsor:
Sequenom, Inc.
Information provided by (Responsible Party):
Sequenom, Inc.
ClinicalTrials.gov Identifier:
NCT01052688
First received: January 15, 2010
Last updated: April 18, 2016
Last verified: April 2016
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Purpose
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.
| Condition | Intervention |
|---|---|
| Down Syndrome Aneuploidy | Other: Maternal blood draw of 30 to 50ml |
| Study Type: | Observational |
| Study Design: | Observational Model: Case-Only Time Perspective: Cross-Sectional |
| Official Title: | Noninvasive Screening for Fetal Chromosomal Aneuploidy and Abnormality: Assay Development & Optimization in Affected Pregnancies |
Resource links provided by NLM:
Genetics Home Reference related topics:
Down syndrome
MedlinePlus related topics:
Down Syndrome
U.S. FDA Resources
Further study details as provided by Sequenom, Inc.:
Primary Outcome Measures:
- 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.
Biospecimen Retention: Samples With DNA
Plasma, white blood cells
| Estimated Enrollment: | 300 |
| Study Start Date: | November 2009 |
| Estimated Study Completion Date: | June 2017 |
| Estimated Primary Completion Date: | June 2017 (Final data collection date for primary outcome measure) |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
Pregnant Women
Pregnant women who have been definitively diagnosed as carrying a fetus with aneuploidy.
|
Other: Maternal blood draw of 30 to 50ml
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.
|
Eligibility| Ages Eligible for Study: | Child, Adult, Senior |
| Sexes Eligible for Study: | Female |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
Study Population
Pregnant women who have been definitively diagnosed by amniocentesis, CVS or QF/PCR as carrying a fetus with aneuploidy
Criteria
Inclusion Criteria:
- 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)
Exclusion Criteria:
- Non-singleton pregnancy in which only one fetus is known to have a chromosomal aneuploidy
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01052688
Please refer to this study by its ClinicalTrials.gov identifier: NCT01052688
Locations
| United States, Arizona | |
| Perinatal Care Associates | Recruiting |
| Phoenix, Arizona, United States, 85013 | |
| Contact: Summer Pierson 602-263-0222 spierson@perinatalcare.com | |
| Principal Investigator: John Garbaciak, MD | |
| St. Joseph's Hospital and medical Center | Recruiting |
| Phoenix, Arizona, United States, 85013 | |
| Contact: Kelli Williamson 602-406-6689 Kelli.Williamson@chw.edu | |
| Principal Investigator: James Balducci, MD | |
| United States, California | |
| Sharp Grossmount | Recruiting |
| San Diego, California, United States, 91944 | |
| Contact: Mary Lepage 619-894-3028 | |
| Principal Investigator: Christopher Lafferty, MD | |
| IGO | Recruiting |
| San Diego, California, United States, 92121 | |
| Contact: Emily Cardey 858-455-1248 ext 137 ecardey@igomed.com | |
| Principal Investigator: Wendy Buchi, Md | |
| San Diego Perinatal Center | Recruiting |
| San Diego, California, United States, 92123 | |
| Contact: Perla Gomez 858-939-6880 pgomez@rchsd.org | |
| Principal Investigator: Larry Cousins, MD | |
| Sub-Investigator: Holly Casele, MD | |
| Women's Healthcare at Frost Street | Recruiting |
| San Diego, California, United States, 92123 | |
| Contact: Study Coordinator 858-505-8672 | |
| Principal Investigator: Rovena Reagan, MD | |
| United States, District of Columbia | |
| Reiter, Hill, Johnson and Nevin | Recruiting |
| Washington, District of Columbia, United States, 20036 | |
| Contact: Susannah Dyer 202-331-1740 | |
| Principal Investigator: Kristiann Nevin, MD | |
| United States, Hawaii | |
| Fetal Diagnostic Institute of the Pacific | Recruiting |
| Honolulu, Hawaii, United States, 96814 | |
| Contact: Melissa Bitanga 858-945-2265 melissa.b@hawaiiantel.net | |
| Principal Investigator: Greigh I Hirata, MD | |
| United States, Michigan | |
| Spectrum Health | Recruiting |
| Grand Rapids, Michigan, United States, 49503 | |
| Contact: Lori Oosterman 616-486-2085 lori.oosterman@spectrum-health.org | |
| Principal Investigator: Assad Sheikh, MD | |
| United States, Rhode Island | |
| Women and Infants Hospital of Rhode Island | Recruiting |
| Providence, Rhode Island, United States, 02902-2499 | |
| Contact: Jacquelyn Halliday 401-453-7515 JHalliday@WIHRI.org | |
| Principal Investigator: Barbara O'Brien, MD | |
Sponsors and Collaborators
Sequenom, Inc.
Investigators
| Study Director: | Juan-Sebastian Saldivar, M.D. | Sequenom, Inc. |
More Information
| Responsible Party: | Sequenom, Inc. |
| ClinicalTrials.gov Identifier: | NCT01052688 History of Changes |
| Other Study ID Numbers: |
SQNM T21-305 |
| Study First Received: | January 15, 2010 |
| Last Updated: | April 18, 2016 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| Plan Description: | 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. |
Keywords provided by Sequenom, Inc.:
|
Down syndrome, aneuploidy, amniocentesis, chorionic villus sampling, Trisomy |
Additional relevant MeSH terms:
|
Down Syndrome Aneuploidy Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases |
Abnormalities, Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Chromosome Aberrations Pathologic Processes |
ClinicalTrials.gov processed this record on July 17, 2017