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Trisomy 21 in Adulthood

This study is currently recruiting participants.
Verified November 2016 by University Hospital, Strasbourg, France
Sponsor:
ClinicalTrials.gov Identifier:
NCT01663675
First Posted: August 13, 2012
Last Update Posted: November 23, 2016
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.
Information provided by (Responsible Party):
University Hospital, Strasbourg, France
August 8, 2012
August 13, 2012
November 23, 2016
November 2014
October 2019   (Final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT01663675 on ClinicalTrials.gov Archive Site
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Trisomy 21 in Adulthood
Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern France)
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.
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Observational
Observational Model: Cohort
Time Perspective: Prospective
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Non-Probability Sample
Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)
Down Syndrome
Genetic: karyotype
Trisomy 21 (Down syndrome)
Trisomy 21 (Down syndrome)
Intervention: Genetic: karyotype
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
80
October 2019
October 2019   (Final data collection date for primary outcome measure)

Inclusion Criteria:

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

Exclusion Criteria:

  • children
  • pregnancy
Sexes Eligible for Study: All
18 Years and older   (Adult, Senior)
No
Contact: ALEMBIK Yves, MD 33.3.88.12.50.89 yves.alembik@chru-strasbourg.fr
France
 
 
NCT01663675
5249
No
Not Provided
Not Provided
University Hospital, Strasbourg, France
University Hospital, Strasbourg, France
Not Provided
Principal Investigator: ALEMBIK Yves, MD Hôpitaux Universitaires de Strasbourg
University Hospital, Strasbourg, France
November 2016