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Completed

NCT Number: NCT05310552

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

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.

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Key information

Conditions

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

Age range

12 year–45 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Institute Jérôme Lejeune, Paris, France

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About this study

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".

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

No interventions - observational study

Other

No interventions - observational study

Primary outcomes

  1. 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

  2. Food Frequency Questionnaire

    Time frame: 1 year

    Average daily nutrient intake

  3. Short Minnesota Leisure Time Physical Activity Questionnaire

    Time frame: 1 year

    Energy expenditure in 14 days

  4. 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

Sponsors and collaborators

Lead sponsor

King's College London

Other

Collaborators

  • Fondation Jérôme Lejeune
  • Parc de Salut Mar

Registry information

Official study title

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

Acronym: GO-DS21

Important dates

Study start
2021
Primary completion
2024
Study completion
2025
First posted
Apr 5, 2022
Registry last updated
Jul 9, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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