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

Down Syndrome Clinical Trial

— GO-DS21  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05310552
• Other study ID #: GODS21CS
• Status: Recruiting
• Start date: June 10, 2021
• Est. completion date: June 30, 2025

Study information

• Verified date: February 2022
• Source: King's College London
• Contact: Andre Strydom, Prof.
• Phone: 0207 836 5454
• Email: andre.strydom[@]kcl.ac.uk
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

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".

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: June 30, 2025
• Est. primary completion date: June 30, 2023
• Gender: All
• Age group: 12 Years to 45 Years

Eligibility

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

Related Conditions & MeSH terms

• Down Syndrome
• Syndrome

Intervention

Other:
• No interventions - observational study
No interventions - observational study

Locations

Country	Name	City	State
France	Institute Jérôme Lejeune	Paris
Spain	Institut Hospital del Mar d'Investigacions Mèdiques	Barcelona
United Kingdom	King's College London	London

Sponsors (3)

Lead Sponsor	Collaborator
King's College London	Fondation Jérôme Lejeune, Parc de Salut Mar

Countries where clinical trial is conducted

France,  Spain,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	Food Frequency Questionnaire	Average daily nutrient intake	1 year
Primary	Short Minnesota Leisure Time Physical Activity Questionnaire	Energy expenditure in 14 days	1 year
Primary	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

External Links

•   GO-DS21 Consortium webpage