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Trisomy of Chromosome 21 Diagnosis by High Output Sequencing (SEQ21)

The recruitment status of this study is unknown because the information has not been verified recently.
Verified February 2011 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was  Recruiting
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01118507
First received: April 28, 2010
Last updated: October 12, 2012
Last verified: February 2011
History of Changes
  Purpose

Demonstrate that the High output shotgun sequencing of the foetal DNA in the maternal blood could allow a complete discrimination between the mothers of a trisomic fetus 21 or a DISOMIQUE foetus 21 from the first quarter of the pregnancy, and so to obtain a reliable alternative in invasive procedure.


Condition
Trisomy 21 - Translocation

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Trisomy of Chromosome 21 Diagnosis by High Output Sequencing of Foetal Circulating DNA in Mother Blood at First Trimester of Pregnancy.

Resource links provided by NLM:

MedlinePlus related topics: Down Syndrome
U.S. FDA Resources

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • The diagnostic performances of the quantification of the DNA resulting from the chromosome 21 by High output shotgun sequencing [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]
    The diagnostic performances(sensibility and specificity)of the quantification of the DNA resulting from the chromosome 21 by High-througput shotgun sequencing will be estimated in comparison with the results of the traditional cytogenetics obtained by culture of amniocytes or trophoblaste (gold standards).


Secondary Outcome Measures:
  • The time necessary for the treatments of samples: [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]
    this one will be estimated at the time means necessities to treat ten first ones and the last ten takings of the study

  • The cost by taking. [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]
    The cost in euro of the high output shotgun sequencing for one blood sample

  • The repeatability of the quantification: [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]
    this will be made by the realization of a double quantification, blind at ten drawn lots patients (these patients will be taken by two tubes instead of the only one and the laboratory will treat both tubes blind, as if they corresponded to two different patients.).


Biospecimen Retention:   Samples With DNA

fetal DNA in maternal blood


Estimated Enrollment: 255
Study Start Date: March 2010
Estimated Study Completion Date: March 2013
Estimated Primary Completion Date: March 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts
TRISOMY
mothers of a trisomic fetus 21
NORMAL KARYOTYPE
mothers of DISOMIQUE foetus 21

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

PREGNANT WOMEN

Criteria

Inclusion Criteria:

  • Age ≥ 18 years,
  • patient coming from one of multidisciplinary prenatal diagnosis center
  • having à high risk of trisomy of chromosome 21 estimated by combine screening > 1/250
  • 11 weeks of gestation or high
  • accepting invasive prenatal diagnosis of chromosomal abnormalities
  • accepting genetic analysis of blood circulating DNA
  • Patient accepting to sign the enlightened assent

Exclusion Criteria:

  • Patient of less than 18 years
  • combine risk < 1/250
  • refusing invasive prenatal diagnosis of chromosomal abnormalities
  • refusing genetic analysis of blood circulating DNA
  • Patient refusing to sign the enlightened assent
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01118507

Locations
France
Necker Enfants Malades Recruiting
Paris, France, 75015
Contact: LAURENT SALOMON, MCU PH     1 44 49 40 30 ext +33     laurentsalomon@orange.fr    
Principal Investigator: LAURENT SALOMON            
Chi Poissy St Germain Recruiting
Poissy, France, 78300
Contact: PATRICK ROZENBERG, PH     1 39 27 52 57     prozenberg@chi-poissy-st-germain.fr    
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: LAURENT SALOMON, MCU PH APHP
  More Information

No publications provided

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01118507     History of Changes
Other Study ID Numbers: AOM 09071, 2009-A00908-49
Study First Received: April 28, 2010
Last Updated: October 12, 2012
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Trisomy of chromosome 21 diagnosis
first trimester of pregnancy
maternal blood
High output shotgun sequencing

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

ClinicalTrials.gov processed this record on May 23, 2013