Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies (CHARMM-AP)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by Sequenom, Inc.
Sponsor:
Information provided by (Responsible Party):
Sequenom, Inc.
ClinicalTrials.gov Identifier:
NCT01052688
First received: January 15, 2010
Last updated: August 20, 2014
Last verified: August 2014
  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:


Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:
  • NIPD result compared to standard test results [ Time Frame: baseline ] [ Designated as safety issue: No ]
    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 2015
Estimated Primary Completion Date: June 2015 (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

Genders 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

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
Women's Healthcare at Frost Street Recruiting
San Diego, California, United States, 92123
Contact: Study Coordinator    858-505-8672      
Principal Investigator: Rovena Reagan, 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         
Sharp Grossmount Recruiting
San Diego, California, United States, 91944
Contact: Mary Lepage    619-894-3028      
Principal Investigator: Christopher Lafferty, 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         
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

No publications provided

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: August 20, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Sequenom, Inc.:
Down syndrome, aneuploidy, amniocentesis, chorionic villus sampling, Trisomy

Additional relevant MeSH terms:
Syndrome
Down Syndrome
Aneuploidy
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations

ClinicalTrials.gov processed this record on September 29, 2014