This site became the new on June 19th. Learn more.
Show more Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu
Give us feedback

Correlations Phenotype / Genotype in Down Syndrome (INTREPID)

This study has been completed.
Fondation Jérôme Lejeune
Information provided by (Responsible Party):
Institut Jerome Lejeune Identifier:
First received: December 16, 2009
Last updated: March 21, 2012
Last verified: December 2009
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.

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

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

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
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 identifier: NCT01034280

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

Responsible Party: Institut Jerome Lejeune Identifier: NCT01034280     History of Changes
Other Study ID Numbers: IJL-PG-EP03
Study First Received: December 16, 2009
Last Updated: March 21, 2012

Keywords provided by Institut Jerome Lejeune:
Down Syndrome
patient family

Additional relevant MeSH terms:
Down Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn processed this record on August 18, 2017