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

NCT05310552 | Completed

• 1 other identifier: GODS21CS
• Study Type: observational
• Target: 230
• Locations: 3 countries
• Sites: 3

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

Conditions

Down Syndrome

Keywords

Down Syndrome; Trisomy 21; Obesity; Comorbidities

Outcome Measures

Primary Outcomes (4)

• Body Mass Index

  Height and weight measurements will be aggregated to arrive at one reported value: Body Mass Index (BMI), in kg/m\^2

  1 year

• Food Frequency Questionnaire

  Average daily nutrient intake

  1 year

• Short Minnesota Leisure Time Physical Activity Questionnaire

  Energy expenditure in 14 days

  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

  1 year

Interventions

No interventions - observational study OTHER

No interventions - observational study

Eligibility Criteria

• Age: 12 Years - 45 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

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).

You may qualify if:

• Males and females aged 12 to 45 years
• Availability of parent/caregiver to accompany the subject to clinical visits and to be willing to give written informed consent, when necessary

You may not qualify if:

• 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

Sponsors & Collaborators

• King's College London: lead
• Fondation Jérôme Lejeune: collaborator
• Parc de Salut Mar: collaborator

Study Sites (3)

Institute Jérôme Lejeune

Paris, 75015, France

Location

Institut Hospital del Mar d'Investigacions Mèdiques

Barcelona, 08003, Spain

Location

King's College London

London, SE5 8AB, United Kingdom

Location

Related Links

• GO-DS21 Consortium webpage

Biospecimen

Retention: SAMPLES WITH DNA

Samples for DNA, RNA on selected participants Plasma and serum samples on those that agreed to donate blood samples Saliva samples

MeSH Terms

Conditions

Down Syndrome; Obesity

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 10, 2022
• First Posted: April 5, 2022
• Study Start: June 10, 2021
• Primary Completion: November 30, 2024
• Study Completion: June 30, 2025
• Last Updated: July 9, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1); FR (1); ES (1)