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Correlations Phenotype / Genotype in Down Syndrome (INTREPID)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01034280
Recruitment Status : Completed
First Posted : December 17, 2009
Last Update Posted : March 22, 2012
Fondation Jérôme Lejeune
Information provided by (Responsible Party):
Institut Jerome Lejeune

Brief Summary:
The purpose of this study is to correlate phenotype and genotype of Down syndrome patients in order to identify the biochemical reactions involved in their mental retardation and their other phenotypic characteristics.

Condition or disease
Down Syndrome

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Study Type : Observational
Actual Enrollment : 524 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Epidemiological Study of Trisomy 21 With Research of Correlations Between Phenotype (Physical, Psychometrical) and Genotype (Genome, Transcriptome, Proteome)
Study Start Date : March 2004
Actual Study Completion Date : May 2011

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Down Syndrome

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Down syndrome patients

Inclusion Criteria:

  • Down syndrome patients
  • age: 8years and older
  • assessment by the psychometric tests
  • possible blood tests

Exclusion Criteria:

  • no exclusion criteria

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01034280

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Institut Jerome Lejeune
Paris, France, 75015
Sponsors and Collaborators
Institut Jerome Lejeune
Fondation Jérôme Lejeune
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Study Director: Yann Grattau, M.D. Institut Jerome Lejeune
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Responsible Party: Institut Jerome Lejeune Identifier: NCT01034280    
Other Study ID Numbers: IJL-PG-EP03
First Posted: December 17, 2009    Key Record Dates
Last Update Posted: March 22, 2012
Last Verified: December 2009
Keywords provided by Institut Jerome Lejeune:
Down Syndrome
patient family
Additional relevant MeSH terms:
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Down Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn