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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

Tracking Information
First Submitted Date August 8, 2012
First Posted Date August 13, 2012
Last Update Posted Date June 21, 2019
Study Start Date November 2014
Estimated Primary Completion Date October 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT01663675 on Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Trisomy 21 in Adulthood
Official Title Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern 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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)
Condition Down Syndrome
Intervention Genetic: karyotype
Study Groups/Cohorts Trisomy 21 (Down syndrome)
Trisomy 21 (Down syndrome)
Intervention: Genetic: karyotype
Publications * Guffroy A, Dieudonné Y, Uring-Lambert B, Goetz J, Alembik Y, Korganow AS. Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center. Orphanet J Rare Dis. 2019 Jan 11;14(1):15. doi: 10.1186/s13023-018-0989-x.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: November 22, 2016)
Original Estimated Enrollment
 (submitted: August 8, 2012)
Estimated Study Completion Date October 2019
Estimated Primary Completion Date October 2019   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contact: ALEMBIK Yves, MD
Listed Location Countries France
Removed Location Countries  
Administrative Information
NCT Number NCT01663675
Other Study ID Numbers 5249
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party University Hospital, Strasbourg, France
Study Sponsor University Hospital, Strasbourg, France
Collaborators Not Provided
Principal Investigator: ALEMBIK Yves, MD Hôpitaux Universitaires de Strasbourg
PRS Account University Hospital, Strasbourg, France
Verification Date June 2019