Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

230 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-06-10

Study Completion Date

2025-06-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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. 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.
2. Health comorbidity patterns in DS individuals (particularly of obesity and related conditions) will likely vary by age and sex.
3. 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.
4. 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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Down Syndrome Biomarker Initiative (DSBI)

NCT02141971

Down Syndrome Alzheimer's Disease

COMPLETED

Natural History of Amyloid Deposition in Adults With Down Syndrome

NCT01303133

Down Syndrome

COMPLETED

Pattern of Growth and Characteristics of Down Syndrome Pediatrics Patients

NCT05056285

Growth Disorders

UNKNOWN

Nutritional Status in Children With Down Syndrome

NCT06989060

Down Syndrome

NOT_YET_RECRUITING

Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs

NCT03288727

Development Disorders

COMPLETED NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Down Syndrome

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

No interventions - observational study

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* 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

Exclusion Criteria

* 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

Minimum Eligible Age

12 Years

Maximum Eligible Age

45 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No