GO-DS21
Research type
Research Study
Full title
GO-DS21: Elucidating age-related comorbidity patterns in Down syndrome (DS): Prospective cohort
IRAS ID
285694
Contact name
Andre Strydom
Contact email
Sponsor organisation
King's College London
Clinicaltrials.gov Identifier
N/A,
Duration of Study in the UK
3 years, 3 months, 31 days
Research summary
Down syndrome (DS) is the genetic manifestation of trisomy of chromosome 21. DS is associated with neuropathological alterations in both neuronal proliferation and differentiation, manifesting in alterations in cognitive and behavioural functioning across the lifespan. DS is also associated with a range of other co-morbidities, including cardiac malformations, endocrine disorders such as hypothyroidism, mental health, vision and hearing issues.
The study of comorbidity patterns in DS will help us understand the development of conditions associated with trisomy 21 during the lifespan. It is an opportunity to explore the underlying causes by which environmental factors such as lifestyle, mental health or response to stress may account for the difference in health issues between DS individuals.
The aim of the project is to identify mechanisms involved in the appearance of specific and potentially related comorbidities (obesity and other metabolic factors, and intellectual disability) in DS. The increased risk to develop this combination of comorbidities in DS, suggests that specific genetic or epigenetic mechanisms associated with trisomy 21 (the cause of DS) predispose to this comorbidity. Beyond the impact for patients with DS we expect that findings of this project may also be beneficial for patients in the general population.
Approximately 300 participants aged 12-45 years with diagnosis of DS will be recruited across centres. Participants will be recruited in three age groups with balanced recruitment by sex: adolescents (12-18 years; n = 100), young adults (19-34 years; n = 100) and middle-age adults (35-45 years; n = 100). In the UK, we will recruit 100 individuals in total.
We will obtain data on associated factors related to body mass index/weight in DS individuals, including cognitive abilities, lifestyle, activity levels, sleep and mental health. These will be gathered through questionnaires completed by caregivers, as well as blood, saliva, hair and skin sample acquisition.
REC name
Wales REC 4
REC reference
21/WA/0312
Date of REC Opinion
9 Nov 2021
REC opinion
Further Information Favourable Opinion