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:

Genetics Home Reference related topics: Down syndrome

MedlinePlus related topics: Down Syndrome

Genetic and Rare Diseases Information Center resources: Chromosomal Triplication

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

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

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