Down SyndromeNCT01663675
Trisomy 21 in Adulthood
An observational study of Down Syndrome, run by University Hospital, Strasbourg, France at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Down Syndrome
- What is being tested?
- karyotype
- How many people
- 80 participants
- Where
- 1 siteFrance
- Study dates
- Nov 2014to Oct 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)
Who may be able to join
- Man or woman older than 18 years
- Down syndrome (clinical diagnosis, eventually confirmed by blood karyotype)
Who cannot join
- children
- pregnancy
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
ALEMBIK Yves, MD, 33.3.88.12.50.89, yves.alembik@chru-strasbourg.fr
ALEMBIK Yves, MD
About this study
Official title: 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.
- Conditions
- Down Syndrome
- Being tested
- karyotype
- Keywords
- Down syndrome
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
karyotypeGenetic
| Study group | Role | What they receive |
|---|---|---|
| Trisomy 21 (Down syndrome) | Trisomy 21 (Down syndrome) Receives: Genetic: karyotype |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Aug 2012 (estimated)
- Study startNov 2014
- Primary completionOct 2019 (estimated)
- Study completionOct 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- ALEMBIK Yves, MD, Principal investigator, Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01663675
- Sponsor's protocol ID
- 5249
- Status last verified
- Jun 2019
- First submitted
- 8 Aug 2012
- Last updated
- 21 Jun 2019
- Results posted
- No
- Data monitoring committee
- No
Publications
Dieudonne Y, Uring-Lambert B, Jeljeli MM, Gies V, Alembik Y, Korganow AS, Guffroy A. Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue. Front Immunol. 2020 May 8;11:840. doi: 10.3389/fimmu.2020.00840. eCollection 2020.
PubMed 32457756Guffroy A, Dieudonne 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.
PubMed 30634988
Study at a glance
From the registry record, last updated by the sponsor on 21 Jun 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern France)
- ClinicalTrials.gov ID
- NCT01663675
- Acronym / sponsor ID
- 5249
- Conditions
- Down Syndrome
- Keywords
- Down syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Nov 2014
- Primary completion
- Oct 2019 (estimated)
- Study completion
- Oct 2019 (estimated)
- First posted
- 13 Aug 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Trisomy 21 (Down syndrome) | – | Genetic: karyotypeTrisomy 21 (Down syndrome) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)
Key inclusion criteria (2 listed)
- Man or woman older than 18 years
- Down syndrome (clinical diagnosis, eventually confirmed by blood karyotype)
Key exclusion criteria (2 listed)
- children
- pregnancy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| karyotype | Genetic | Trisomy 21 (Down syndrome) |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Jun 2019.
- Derived from this study: PubMed 32457756Dieudonne Y, Uring-Lambert B, Jeljeli MM, Gies V, Alembik Y, Korganow AS, Guffroy A. Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue. Front Immunol. 2020 May 8;11:840. doi: 10.3389/fimmu.2020.00840. eCollection 2020.
- Derived from this study: PubMed 30634988Guffroy A, Dieudonne 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
ALEMBIK Yves, MD principal investigator
Hôpitaux Universitaires de Strasbourg
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome, run by University Hospital, Strasbourg, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 21 Jun 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact ALEMBIK Yves, MD (33.3.88.12.50.89, yves.alembik@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01663675, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Jun 2019.