Correlations Phenotype / Genotype in Down Syndrome (INTREPID)
This study has been completed.
Sponsor:
Institut Jerome Lejeune
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
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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
tetrasomy 18p
MedlinePlus related topics:
Down Syndrome
U.S. FDA Resources
Further study details as provided by Institut Jerome Lejeune:
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
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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
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 Syndrome Abnormalities, Multiple Chromosome Disorders Congenital Abnormalities Disease |
Genetic Diseases, Inborn Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Pathologic Processes |
ClinicalTrials.gov processed this record on February 25, 2015