NCT05310552

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

Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS): Prospective Cohort (GO-DS21 Cohort Study)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 230 (actual)
• Sponsor: King's College London · Academic / Other
• Sex: All
• Age: 12 Years – 45 Years
• Healthy volunteers: —

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. 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.

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

Interventions

Type	Name	Description
OTHER	No interventions - observational study	No interventions - observational study

Timeline

• Start date: 2021-06-10
• Primary completion: 2024-11-30
• Completion: 2025-06-30
• First posted: 2022-04-05
• Last updated: 2025-07-09

Locations

3 sites across 3 countries: France, Spain, United Kingdom