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Trial record 1 of 2 for:    down syndrome | Strasbourg, France
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Trisomy 21 in Adulthood

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01663675
Recruitment Status : Recruiting
First Posted : August 13, 2012
Last Update Posted : June 21, 2019
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Brief Summary:
Trisomy 21 or Down syndrome, is the most common genetic cause of cognitive disability. Currently, in Alsace, the birth prevalence is about 1 in 1600 live births, which means 10 liveborns with Down syndrome each year.If screening and prenatal diagnosis of children with trisomy 21, as well as medical care, social and educational integration in childhood was the subject of much research and has led to remarkable progress in terms of health and medical care, it is not the same for the knowledge about adolescents and adults.Despite a more and more higher life expectancy, the evolution of trisomy 21 in adulthood is often marked by a deterioration in health status, with a regression of acquired psychomotor skills, often attributed only to the precocious occurrence of Alzheimer's dementia. Nevertheless, it seems that the diagnosis of Alzheimer's dementia is often overdiagnosed, and it is well established that only a fraction of Down syndrome patients will develop this type of dementia. Too often a decline in general health, behavioral changes and decreased cognitive abilities are only attributed to the Down syndrome with an early dementia without looking for an underlying, potentially curable, disease.This study aims to better evaluate the health and social status of 100 adults with trisomy 21 in Alsace. The medical evaluation will include a comprehensive assessment of health status and quality of life conducted by the geneticist, a cardiac, sensory, hormonal, biological and radiological evaluation. A speech-language and psychomotor evaluation will also be conducted. A psychiatric consultation and a psychometric assessment will aim to assess cognitive function and to search for associated mood disorders.The expected results are to better know the natural history of trisomy 21 in adulthood, with the determination of the frequency of morbid events specific to adulthood, and also to improve the medical and paramedical care with the establishment of a monitoring program to prevent the occurrence of these morbid events.

Condition or disease Intervention/treatment
Down Syndrome Genetic: karyotype

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Study Type : Observational
Estimated Enrollment : 80 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern France)
Study Start Date : November 2014
Estimated Primary Completion Date : October 2019
Estimated Study Completion Date : October 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Down Syndrome

Group/Cohort Intervention/treatment
Trisomy 21 (Down syndrome)
Trisomy 21 (Down syndrome)
Genetic: karyotype

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)

Inclusion Criteria:

  • Man or woman older than 18 years
  • Down syndrome (clinical diagnosis, eventually confirmed by blood karyotype)

Exclusion Criteria:

  • children
  • pregnancy

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 identifier (NCT number): NCT01663675

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Contact: ALEMBIK Yves, MD

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Hôpitaux Universitaires de Strasbourg Recruiting
Strasbourg, France, 67091
Contact: ALEMBIK Yves, MD   
Principal Investigator: ALEMBIK Yves, MD         
Sub-Investigator: SCHAEFER Elise, MD         
Sub-Investigator: EL CHEHADEH Salima, MD         
Sub-Investigator: DOLLFUS Hélène, MD         
Sub-Investigator: TIMBOLSCHI Dana Luiza, MD         
Sub-Investigator: CHRISTMANN Dominique, MD         
Sub-Investigator: MANIERE Marie-Cécile, MD         
Sub-Investigator: DAVIDEAU Jean-Luc, MD         
Sub-Investigator: KOENIG Anne, MD         
Sub-Investigator: ROUL Gérard José, MD         
Sub-Investigator: PETIT-EISENMANN Hélène, MD         
Sub-Investigator: BLOCH-ZUPAN Agnès, MD         
Sub-Investigator: BERNA Fabrice, MD         
Sub-Investigator: PRADIGNAC Alain, MD         
Sub-Investigator: GUFFROY Aurélien, MD         
Sub-Investigator: KREMER Stéphane, MD         
Sub-Investigator: PERDOMO-TRUJILLO Yaumara, MD         
Sub-Investigator: KORGANOW Anne-Sophie, MD         
Sub-Investigator: BLANC Frédéric, MD         
Sub-Investigator: GAZZANO Elise, MD         
Sub-Investigator: BRUN Isabelle, MD         
Sub-Investigator: HIEBEL Jean-Michel, MD         
Sponsors and Collaborators
University Hospital, Strasbourg, France
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Principal Investigator: ALEMBIK Yves, MD Hôpitaux Universitaires de Strasbourg
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: University Hospital, Strasbourg, France Identifier: NCT01663675    
Other Study ID Numbers: 5249
First Posted: August 13, 2012    Key Record Dates
Last Update Posted: June 21, 2019
Last Verified: June 2019
Keywords provided by University Hospital, Strasbourg, France:
Down syndrome
Additional relevant MeSH terms:
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Down Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations
Chromosome Duplication