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:

Genetics Home Reference related topics: CASK-related intellectual disability Down syndrome SYNGAP1-related intellectual disability

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


Ages Eligible for Study:	8 Years and older (Child, Adult, Senior)
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

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 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


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:


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

ClinicalTrials.gov processed this record on September 23, 2016

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