Down SyndromeSYNAPSOT21NCT03445962
19/5000 (SYNAPSOT21) Predictive Factors of Sleep Apnea Syndrome in Down Syndrome
An observational study of Down Syndrome and Sleep Apnea, Obstructive, run by University Hospital, Grenoble at 1 site in France.
Trial summary
The obstructive sleep apnea syndrome (OSAS) is frequently reported in subjects with trisomy 21. The consequences of this syndrome are expressed in various disorders such as cognitive and cardiovascular alterations. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Down Syndrome, Sleep Apnea, Obstructive, Polysomnography
- What is being tested?
- Assessment of OSAS predictive factors
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 15 Nov 2017to 11 Jul 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: Adults with Down syndome voluntary to participated
Who may be able to join
- Subjects with Down syndrome, able to practice physical activity all participants have received information all have signed the consent form
Who cannot join
- pregnant women
- Pharmacological treatment altering autonomic nervous system (ANS)
- Contra-indication to physical exercise, such as atlanto-axial instability
Trial locations and contacts
1 site in 1 country.
About this study
Official title: SLEEP APNEA SYNDROME AND TRISOMY 21 : Exploration of the Predictive Factors in the Population With Trisomy 21
The obstructive sleep apnea syndrome (OSAS) is frequently reported in subjects with trisomy 21. The consequences of this syndrome are expressed in various disorders such as cognitive and cardiovascular alterations. It is also reported a premature exhaustion with the achievement of various professional or recreational activities, as well as an increase in the frequency of daytime sleepiness. In trisomy 21, there are factors that are systematically associated with obstructive apnea. The identification of these factors would make it possible to diagnose OSAS earlier, under-diagnosed in the population with trisomy 21 even though these OSAS are associated with increased cardiovascular risks.
The aim of this study is to identify the predictive factors associated with sleep apnea in the trisomy population in order to propose early detection.
OSAS treatment in a young adult with Down syndrome could reduce physical fatigue apparition during various activities, reduce daytime sleepiness, and have a positive impact on physical fitness, and therefore more broadly on health.
Read the detailed description
The predictive factors for OSA that will be studied are: physical activity level, dentofacial disharmonies, blood parameters, motor disabilities, heart rate variability parameters measured during sleep and during autonomic nervous stimulation by orthostatic test.
All these factors will be linked to the data obtained by:
- polysomnography
- by the joint use of seismocardiography
OSAS lead to many associated disorders, which identified early can be better supported to limit the deleterious effects of this OSAS:
(i) a sudden and repeated activation of the sympathetic nervous system triggered by sleep fragmentation (ii) intermittent hypoxia associated with OSAS may increase insulin resistance through the involvement of an inflammatory state and oxidative stress.
(iii) a significant level of diurnal fatigue limiting activities, thus promoting a sedentary lifestyle and increasing cardiovascular risk factors.
Several secondary objectives will therefore be studied:
- Can OSAS be predicted by the existence of autonomic dysfunction?
- Can OSAS be predicted by specific biological disturbances?
- Can OSAS be predicted by the presence of a specific cranial structure?
- Can OSAS be predicted by an insufficient level of physical activity?
Finally does the use seismocardiography make it possible to identify quickly and early these risk factors linked to OSAS?
- Conditions
- Down Syndrome, Sleep Apnea, Obstructive, Polysomnography
- Being tested
- Assessment of OSAS predictive factors
- Keywords
- Autonomic nervous system, Heart rate variability, Physical Activity, exercise, biological parameters, cephalometry, body composition, actigraphy, motor capacity, physical fitness, aerobic capacity, seismocardiography
- Medical subject headings
- Down Syndrome, Sleep Apnea, Obstructive, Motor Activity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Assessment of OSAS predictive factorsDiagnostic test
All subjects of the two groups realized the same assessment:
- Anthropometric evaluation
- biological examination (hormonal, inflammatory and complete blood count, and lipidic profile)
- rest electrocardiogram
- motor assessment (strenght, flexibility and balance)
- actigraphy
- Autonomic nervous system assessment during sleep
- Autonomic nervous system assessment during head up tilt test before and after physical exercise
- maximal treadmill test (VO2 max measure)
- polysomnography
- seismocardiography
- questionnaires :sleep and physical activity
| Study group | Role | What they receive |
|---|---|---|
| Down Syndrome (DS) | Assessment of OSAS predictive factors in Down Syndrome without or without OSAS Receives: Diagnostic Test: Assessment of OSAS predictive factors |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of predictive factors associated to obstructive sleep apnea syndrome in DS subjects
OSAS will be diagnosed with polysomnography and seismocardiography. AHI threshold will be 15 to diagnose an OSAS (score).
Measured: 4 months
Secondary outcomes (12)
dysautonomia role on OSAS in DS
Cardiac response during exercise (existence of chronotropic incompetence
%HR(reserve)lower than 80%)
Measured: 1 day
Investigation of autonomic nervous system
spectral variations of blood pressure and heart rate variability during head-up tilt test : (spectral density in ms² and normalized units)
Measured: 1 day
Oxygenation and dysautonomia
Cerebral and peripheral oxygenation parameters measured with near-infrared spectroscopy during head-up tilt test (delta Hbtot between supine and head up tilt positions)
- Cardiac response during exercise (existence of chronotropic incompetence)
Measured: 1 day
Investigation of dysautonomia during sleep
spectral variations of heart rate variability (spectral density in ms² and normalized units)
Measured: 3 nignts
Biological profile
Disorders in blood parameters will be assessed by different inflammatory, corticotropic, thyroid and glycemic values in comparison with reference values.
Measured: 1 day
anthropometric characteristics role on OSAS in DS
Existence of morphologic specificities will be investigated:
Craniofacial abnormalities with orthopantomogram (degree)
Measured: 1 day
Metabolic syndrome
Existence of morphologic specificities will be investigated:
Neck, waist and hips circumferences (cm)
Measured: 1 day
morphologic parameters
Existence of morphologic specificities will be investigated:
Body fat composition (%)
Measured: 1 day
Quantification of physical activity
Physical activity level will be assessed with actigraphy (min or h per day)
Measured: 15 days
Motor skills
motor capacities : strength (explosive leg power (cm) and handgrip measure), flexibility (cm), balance (cm)
Measured: 15 days
questionnaire of physical activity
G- PAQ and parental perceptions of physical activity (score)
Measured: 15 days
Sleep questionnaire
Epworth and Pittsburg questionnaire (score)
Measured: 15 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2018
- Study start15 Nov 2017
- Primary completion11 Jul 2019
- Study completion11 Jul 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, GrenobleThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Grenoble
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Stéphane DOUTRELEAU, MD, Principal investigator, CHU Grenoble Alpes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03445962
- Sponsor's protocol ID
- 38RC17.161
- Acronym
- SYNAPSOT21
- Status last verified
- Dec 2025
- First submitted
- 17 Jan 2018
- Last updated
- 29 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Leti T, Guinot M, Favre-Juvin A, Bricout VA. Difference of catecholamine responses to exercise in men with trisomy 21, with or without chronotropic incompetence. Physiol Behav. 2015 Apr 1;142:97-103. doi: 10.1016/j.physbeh.2015.02.007. Epub 2015 Feb 4.
PubMed 25660758Bricout VA, Guinot M, Faure P, Flore P, Eberhard Y, Garnier P, Juvin AF. Are hormonal responses to exercise in young men with Down's syndrome related to reduced endurance performance? J Neuroendocrinol. 2008 May;20(5):558-65. doi: 10.1111/j.1365-2826.2008.01695.x. Epub 2008 Mar 15.
PubMed 18363810Flore P, Bricout VA, van Biesen D, Guinot M, Laporte F, Pepin JL, Eberhard Y, Favre-Juvin A, Wuyam B, van de Vliet P, Faure P. Oxidative stress and metabolism at rest and during exercise in persons with Down syndrome. Eur J Cardiovasc Prev Rehabil. 2008 Feb;15(1):35-42. doi: 10.1097/HJR.0b013e3282f2bff3.
PubMed 18277183Nguyen TD, Baillieul S, Guinot M, Doutreleau S, Bricout VA. Classification of Factors Effect on Sleep in Individuals with Down Syndrome. Brain Sci. 2021 Nov 12;11(11):1500. doi: 10.3390/brainsci11111500.
PubMed 34827499
Study at a glance
From the registry record, last updated by the sponsor on 29 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- SLEEP APNEA SYNDROME AND TRISOMY 21 : Exploration of the Predictive Factors in the Population With Trisomy 21
- ClinicalTrials.gov ID
- NCT03445962
- Acronym / sponsor ID
- SYNAPSOT21 / 38RC17.161
- Conditions
- Down Syndrome, Sleep Apnea, Obstructive, Polysomnography
- Keywords
- Autonomic nervous system, Heart rate variability, Physical Activity, exercise, biological parameters, cephalometry, body composition, actigraphy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- University Hospital, GrenobleUniversity, hospital or other
- Study start
- 15 Nov 2017 (actual)
- Primary completion
- 11 Jul 2019 (actual)
- Study completion
- 11 Jul 2019 (actual)
- First posted
- 26 Feb 2018 (actual)
- 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.
The obstructive sleep apnea syndrome (OSAS) is frequently reported in subjects with trisomy 21. The consequences of this syndrome are expressed in various disorders such as cognitive and cardiovascular alterations. It is also reported a premature exhaustion with the achievement of various professional or recreational activities, as well as an increase in the frequency of daytime sleepiness. In trisomy 21, there are factors that are systematically associated with obstructive apnea. The identification of these factors would make it possible to diagnose OSAS earlier, under-diagnosed in the population with trisomy 21 even though these OSAS are associated with increased cardiovascular risks.
The aim of this study is to identify the predictive factors associated with sleep apnea in the trisomy population in order to propose early detection.
OSAS treatment in a young adult with Down syndrome could reduce physical fatigue apparition during various activities, reduce daytime sleepiness, and have a positive impact on physical fitness, and therefore more broadly on health.
Detailed description
The predictive factors for OSA that will be studied are: physical activity level, dentofacial disharmonies, blood parameters, motor disabilities, heart rate variability parameters measured during sleep and during autonomic nervous stimulation by orthostatic test.
All these factors will be linked to the data obtained by:
- polysomnography
- by the joint use of seismocardiography
OSAS lead to many associated disorders, which identified early can be better supported to limit the deleterious effects of this OSAS:
(i) a sudden and repeated activation of the sympathetic nervous system triggered by sleep fragmentation (ii) intermittent hypoxia associated with OSAS may increase insulin resistance through the involvement of an inflammatory state and oxidative stress.
(iii) a significant level of diurnal fatigue limiting activities, thus promoting a sedentary lifestyle and increasing cardiovascular risk factors.
Several secondary objectives will therefore be studied:
- Can OSAS be predicted by the existence of autonomic dysfunction?
- Can OSAS be predicted by specific biological disturbances?
- Can OSAS be predicted by the presence of a specific cranial structure?
- Can OSAS be predicted by an insufficient level of physical activity?
Finally does the use seismocardiography make it possible to identify quickly and early these risk factors linked to OSAS?
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Down Syndrome (DS) | – | Diagnostic Test: Assessment of OSAS predictive factorsAssessment of OSAS predictive factors in Down Syndrome without or without OSAS |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Adults with Down syndome voluntary to participated
Key inclusion criteria (1 listed)
- Subjects with Down syndrome, able to practice physical activity all participants have received information all have signed the consent form
Key exclusion criteria (3 listed)
- pregnant women
- Pharmacological treatment altering autonomic nervous system (ANS)
- Contra-indication to physical exercise, such as atlanto-axial instability
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 |
|---|---|---|
| Assessment of OSAS predictive factorsAll subjects of the two groups realized the same assessment: * Anthropometric evaluation * biological examination (hormonal, inflammatory and complete blood count, and lipidic profile) * rest electrocardiogram * motor assessment (strenght, flexibility and balance) * actigraphy * Autonomic nervous system assessment during sleep * Autonomic nervous system assessment during head up tilt test before and after physical exercise * maximal treadmill test (VO2 max measure) * polysomnography * seismocardiography * questionnaires :sleep and physical activity | Diagnostic test | Down Syndrome (DS) |
Primary outcome
Identification of predictive factors associated to obstructive sleep apnea syndrome in DS subjects
Time frame: 4 months
OSAS will be diagnosed with polysomnography and seismocardiography. AHI threshold will be 15 to diagnose an OSAS (score).
12 secondary outcomes
dysautonomia role on OSAS in DS
Time frame: 1 day
Investigation of autonomic nervous system
Time frame: 1 day
Oxygenation and dysautonomia
Time frame: 1 day
Investigation of dysautonomia during sleep
Time frame: 3 nignts
Biological profile
Time frame: 1 day
anthropometric characteristics role on OSAS in DS
Time frame: 1 day
Metabolic syndrome
Time frame: 1 day
morphologic parameters
Time frame: 1 day
Quantification of physical activity
Time frame: 15 days
Motor skills
Time frame: 15 days
questionnaire of physical activity
Time frame: 15 days
Sleep questionnaire
Time frame: 15 days
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Dec 2025.
- Background: PubMed 25660758Leti T, Guinot M, Favre-Juvin A, Bricout VA. Difference of catecholamine responses to exercise in men with trisomy 21, with or without chronotropic incompetence. Physiol Behav. 2015 Apr 1;142:97-103. doi: 10.1016/j.physbeh.2015.02.007. Epub 2015 Feb 4.
- Background: PubMed 18363810Bricout VA, Guinot M, Faure P, Flore P, Eberhard Y, Garnier P, Juvin AF. Are hormonal responses to exercise in young men with Down's syndrome related to reduced endurance performance? J Neuroendocrinol. 2008 May;20(5):558-65. doi: 10.1111/j.1365-2826.2008.01695.x. Epub 2008 Mar 15.
- Background: PubMed 18277183Flore P, Bricout VA, van Biesen D, Guinot M, Laporte F, Pepin JL, Eberhard Y, Favre-Juvin A, Wuyam B, van de Vliet P, Faure P. Oxidative stress and metabolism at rest and during exercise in persons with Down syndrome. Eur J Cardiovasc Prev Rehabil. 2008 Feb;15(1):35-42. doi: 10.1097/HJR.0b013e3282f2bff3.
- Results publication: PubMed 34827499Nguyen TD, Baillieul S, Guinot M, Doutreleau S, Bricout VA. Classification of Factors Effect on Sleep in Individuals with Down Syndrome. Brain Sci. 2021 Nov 12;11(11):1500. doi: 10.3390/brainsci11111500.
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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.
Stéphane DOUTRELEAU, MD principal investigator
CHU Grenoble Alpes
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 and Sleep Apnea, Obstructive, run by University Hospital, Grenoble 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 1 inclusion and 3 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: finished, as of the sponsor's last update on 29 Dec 2025. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of predictive factors associated to obstructive sleep apnea syndrome in DS subjects (time frame: 4 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03445962, which also lists 4 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 29 Dec 2025.