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Correlations Phenotype / Genotype in Down Syndrome (INTREPID)

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01034280
First Posted: December 17, 2009
Last Update Posted: March 22, 2012
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.
Collaborator:
Fondation Jérôme Lejeune
Information provided by (Responsible Party):
Institut Jerome Lejeune
  Purpose
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
Down Syndrome

Study Type: Observational
Study Design: 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)

Resource links provided by NLM:


Further study details as provided by Institut Jerome Lejeune:

Enrollment: 524
Study Start Date: March 2004
Study Completion Date: May 2011
  Eligibility

Information from the National Library of Medicine

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

Inclusion Criteria:

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

Exclusion Criteria:

  • no exclusion criteria
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT01034280


Locations
France
Institut Jerome Lejeune
Paris, France, 75015
Sponsors and Collaborators
Institut Jerome Lejeune
Fondation Jérôme Lejeune
Investigators
Study Director: Yann Grattau, M.D. Institut Jerome Lejeune
  More Information

Responsible Party: Institut Jerome Lejeune
ClinicalTrials.gov Identifier: NCT01034280     History of Changes
Other Study ID Numbers: IJL-PG-EP03
Intrepid
First Submitted: December 16, 2009
First Posted: December 17, 2009
Last Update Posted: March 22, 2012
Last Verified: December 2009

Keywords provided by Institut Jerome Lejeune:
Down Syndrome
phenotype
genotype
patient family

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