Down SyndromeGO-DS21NCT05310552
Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS)
An observational study of Down Syndrome, run by King's College London at 3 sites in 3 countries.
Trial summary
This study is a non-drug, multicenter, prospective cohort study. It will be conducted in 300 volunteers from 12 to 45 years of age (inclusive) with a diagnosis of Down syndrome from 3 countries (France, Spain, United Kingdom (UK)). The basic hypotheses of the study are the following: 1. Read more about this study
- Who is it for?
- Ages 12 to 45 years
- Conditions the study is for
- Down Syndrome
- How many people
- 230 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 10 Jun 2021to 30 Jun 2025
- 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 12 to 45 years
- All sexes
- Child, Adult
Study population: A sample of 300 individuals aged 12-45 years with a diagnosis of Down syndrome will be recruited within the 3 sites. Participants will be recruited in three age groups stratified by sex: * Adolescents (12-18 years; n = 100) * Young adults (19-34 years; n = 100) * Middle-age adults (35-45 years; n = 100).
Who may be able to join
- Males and females aged 12 to 45 years
- With established genetic diagnosis of Down syndrome (full trisomy 21; based on karyotype results - not exclusion if not available but will need to confirm karyotype if not done previously)
- Availability of parent/caregiver to accompany the subject to clinical visits and to be willing to give written informed consent, when necessary
Who cannot join
- Confirmed mosaic trisomy 21, partial trisomy 21, or translocation
- Comorbid conditions - Participation is allowed as long as the condition(s) are considered stable and it do not interfere with the participation of the study
- Subjects with evidence of dementia or meeting clinical diagnoses for dementia
- Participation in a medication treatment trial in the last 3 months prior to the study
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
Spain1 site
Institut Hospital del Mar d'Investigacions Mèdiques
Barcelona, 08003
About this study
Official title: Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS): Prospective Cohort (GO-DS21 Cohort Study)
This study is a non-drug, multicenter, prospective cohort study. It will be conducted in 300 volunteers from 12 to 45 years of age (inclusive) with a diagnosis of Down syndrome from 3 countries (France, Spain, United Kingdom (UK)). The basic hypotheses of the study are the following:
- Diseases (and comorbidity) arise from one or more biological networks perturbed by the genetic disorder (trisomy 21) through interaction with environmental risks factors and epigenetic changes.
- Health comorbidity patterns in DS individuals (particularly of obesity and related conditions) will likely vary by age and sex.
- Obesity comorbidity patterns will relate to variation in factors including lifestyle, stress-response, severity of intellectual disability (ID) and variation in cognitive domains such as executive functioning.
- Stress responses, as measured with cortisol concentrations, will differentiate individuals with DS who are obese and those who are not. Extremes in phenotype (Obese vs. Non-obese) will be related to differences in the metabolomic, transcriptomic, and microbiome concentrations.
Read the detailed description
The study will be conducted in n= 300 volunteers with DS from 3 countries (France, Spain, UK); equal numbers in 3 age groups (12 - 18 years; 19 - 34 years; 35 - 45 years). The total number of volunteers expected to be included in each country is n = 100.
From the initial cross-sectional cohort, individuals will be selected on the basis of obesity status and invited to participate in a nested case-control study (n = 30 for normal weight DS individuals and n = 30 DS individuals with extreme phenotype). In adults, normal weight is defined as BMI 18.5 to 24.9 and significant obesity as BMI > 35 kg/m2. In children under age 18, the research team will use the International Obesity Task Force (IOTF) curves which are international norms) with IOTF > 30 for obese and IOTF 18.5 - 25 for the normal weight group. The research team will monitor allocation using monthly eCRF recruitment reports for central allocation of recruits to ensure balance between age, sex and BMI between the "cases" and the "controls".
- Conditions
- Down Syndrome
- Being tested
- No interventions - observational study
- Keywords
- Down Syndrome, Trisomy 21, Obesity, Comorbidities
- Medical subject headings
- Down Syndrome, Obesity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventions - observational studyOther
No interventions - observational study
What is being measured
The primary outcome is the main question the study is designed to answer.
Body Mass Index
Height and weight measurements will be aggregated to arrive at one reported value: Body Mass Index (BMI), in kg/m^2
Measured: 1 year
Food Frequency Questionnaire
Average daily nutrient intake
Measured: 1 year
Short Minnesota Leisure Time Physical Activity Questionnaire
Energy expenditure in 14 days
Measured: 1 year
Mental health questionnaire
Reiss Screen for Maladaptive Behaviour - composite outcome measure consisting of the following multiple sub-measures:
- Aggressive behavior
- Autism
- Psychosis
- Paranoia
- Depression (behavioural signs)
- Depression (physical signs)
- Dependent personality disorder
- Avoidant disorder
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Apr 2022
- Study start10 Jun 2021
- Primary completion30 Nov 2024
- Study completion30 Jun 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- More trials run by King's College LondonThe 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
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 230 participants (actual)
Sponsor and investigators
- Lead sponsor
- King's College London
- Sponsor type
- University, hospital or other
- Collaborators
- Fondation Jérôme Lejeune, Parc de Salut Mar
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05310552
- Sponsor's protocol ID
- GODS21CS
- Acronym
- GO-DS21
- Status last verified
- Jul 2025
- First submitted
- 10 Feb 2022
- Last updated
- 9 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD will be shared within the GO-DS21 Consortium.
Study at a glance
From the registry record, last updated by the sponsor on 9 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS): Prospective Cohort (GO-DS21 Cohort Study)
- ClinicalTrials.gov ID
- NCT05310552
- Acronym / sponsor ID
- GO-DS21 / GODS21CS
- Conditions
- Down Syndrome
- Keywords
- Down Syndrome, Trisomy 21, Obesity, Comorbidities
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 230 participants (actual)
- Lead sponsor
- King's College LondonUniversity, hospital or other
- Collaborators
- Fondation Jérôme Lejeune, Parc de Salut Mar
- Study start
- 10 Jun 2021 (actual)
- Primary completion
- 30 Nov 2024 (actual)
- Study completion
- 30 Jun 2025 (actual)
- First posted
- 5 Apr 2022 (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.
This study is a non-drug, multicenter, prospective cohort study. It will be conducted in 300 volunteers from 12 to 45 years of age (inclusive) with a diagnosis of Down syndrome from 3 countries (France, Spain, United Kingdom (UK)). The basic hypotheses of the study are the following:
- Diseases (and comorbidity) arise from one or more biological networks perturbed by the genetic disorder (trisomy 21) through interaction with environmental risks factors and epigenetic changes.
- Health comorbidity patterns in DS individuals (particularly of obesity and related conditions) will likely vary by age and sex.
- Obesity comorbidity patterns will relate to variation in factors including lifestyle, stress-response, severity of intellectual disability (ID) and variation in cognitive domains such as executive functioning.
- Stress responses, as measured with cortisol concentrations, will differentiate individuals with DS who are obese and those who are not. Extremes in phenotype (Obese vs. Non-obese) will be related to differences in the metabolomic, transcriptomic, and microbiome concentrations.
Detailed description
The study will be conducted in n= 300 volunteers with DS from 3 countries (France, Spain, UK); equal numbers in 3 age groups (12 - 18 years; 19 - 34 years; 35 - 45 years). The total number of volunteers expected to be included in each country is n = 100.
From the initial cross-sectional cohort, individuals will be selected on the basis of obesity status and invited to participate in a nested case-control study (n = 30 for normal weight DS individuals and n = 30 DS individuals with extreme phenotype). In adults, normal weight is defined as BMI 18.5 to 24.9 and significant obesity as BMI > 35 kg/m2. In children under age 18, the research team will use the International Obesity Task Force (IOTF) curves which are international norms) with IOTF > 30 for obese and IOTF 18.5 - 25 for the normal weight group. The research team will monitor allocation using monthly eCRF recruitment reports for central allocation of recruits to ensure balance between age, sex and BMI between the "cases" and the "controls".
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 12 to 45 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- A sample of 300 individuals aged 12-45 years with a diagnosis of Down syndrome will be recruited within the 3 sites. Participants will be recruited in three age groups stratified by sex: * Adolescents (12-18 years; n = 100) * Young adults (19-34 years; n = 100) * Middle-age adults (35-45 years; n = 100).
Key inclusion criteria (3 listed)
- Males and females aged 12 to 45 years
- With established genetic diagnosis of Down syndrome (full trisomy 21; based on karyotype results - not exclusion if not available but will need to confirm karyotype if not done previously)
- Availability of parent/caregiver to accompany the subject to clinical visits and to be willing to give written informed consent, when necessary
Key exclusion criteria (4 listed)
- Confirmed mosaic trisomy 21, partial trisomy 21, or translocation
- Comorbid conditions - Participation is allowed as long as the condition(s) are considered stable and it do not interfere with the participation of the study
- Subjects with evidence of dementia or meeting clinical diagnoses for dementia
- Participation in a medication treatment trial in the last 3 months prior to the study
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 |
|---|---|---|
| No interventions - observational studyNo interventions - observational study | Other | – |
Primary outcome
Body Mass Index
Time frame: 1 year
Height and weight measurements will be aggregated to arrive at one reported value: Body Mass Index (BMI), in kg/m^2
Food Frequency Questionnaire
Time frame: 1 year
Average daily nutrient intake
Short Minnesota Leisure Time Physical Activity Questionnaire
Time frame: 1 year
Energy expenditure in 14 days
Mental health questionnaire
Time frame: 1 year
Reiss Screen for Maladaptive Behaviour - composite outcome measure consisting of the following multiple sub-measures: * Aggressive behavior * Autism * Psychosis * Paranoia * Depression (behavioural signs) * Depression (physical signs) * Dependent personality disorder * Avoidant disorder
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 9 Jul 2025.
- GO-DS21 Consortium webpageLink provided by the sponsor.
- Individual participant dataSharing planned: No. IPD will be shared within the GO-DS21 Consortium.
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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.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome, run by King's College London at 3 sites in 3 countries.
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 3 inclusion and 4 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 9 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in France, Spain, United Kingdom. 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?
Body Mass Index (time frame: 1 year). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 9 Jul 2025; AzTrials last refreshed its copy on 3 Nov 2026.