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Correlations Phenotype / Genotype in Down Syndrome (INTREPID)

This study has been completed.
Sponsor:
Collaborator:
Fondation Jérôme Lejeune
Information provided by (Responsible Party):
Institut Jerome Lejeune
ClinicalTrials.gov Identifier:
NCT01034280
First received: December 16, 2009
Last updated: March 21, 2012
Last verified: December 2009
History of Changes
  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:

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

Further study details as provided by Institut Jerome Lejeune:

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

Ages Eligible for Study:   8 Years and older
Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided

Responsible Party: Institut Jerome Lejeune
ClinicalTrials.gov Identifier: NCT01034280     History of Changes
Other Study ID Numbers: IJL-PG-EP03, Intrepid
Study First Received: December 16, 2009
Last Updated: March 21, 2012
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

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

Additional relevant MeSH terms:
Down Syndrome
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 21, 2013