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

This study is currently recruiting participants.
Verified November 2012 by Sequenom, Inc.
Sponsor:
Information provided by (Responsible Party):
Sequenom, Inc.
ClinicalTrials.gov Identifier:
NCT01052688
First received: January 15, 2010
Last updated: November 26, 2012
Last verified: November 2012
  Purpose

To collect samples for the purpose of developing and optimizing a prenatal aneuploidy test using circulating cell free nucleic acid from blood samples from pregnant women who are known to have a fetus diagnosed with an aneuploidy in the current pregnancy. The results of the ccff aneuploidy screening test will be compared to the results obtained through standard chromosome analysis procedures such as Karyotype, FISH and/or QF-PCR


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 Aneuploidy: Assay Development & Optimization in Affected Pregnancies

Resource links provided by NLM:


Further study details as provided by Sequenom, Inc.:

Biospecimen Retention:   Samples With DNA

Plasma, white blood cells


Estimated Enrollment: 90
Study Start Date: November 2009
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
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
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            
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            
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: Allan T. Bombard, 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: November 26, 2012
Health Authority: United States: Institutional Review Board

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

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

ClinicalTrials.gov processed this record on May 22, 2013