DELINEATE Version 1
Research type
Research Study
Full title
DELINEATE: DELineating the NEuropsychologicAl phenoTypes of rarE developmental genetic conditions
IRAS ID
345536
Contact name
R Bromley
Contact email
Sponsor organisation
The University of Manchester
Clinicaltrials.gov Identifier
N/A as of yet., ClinicalTrials.gov study number
Duration of Study in the UK
1 years, 5 months, 30 days
Research summary
In the UK, a rare disease is defined as being a condition that affects fewer than 1 in 2,000 people. Although individual diseases are rare, together there are over 6,000 different rare conditions which impact 4% of the population. This translates to there being approximately 3.5 million people in the UK who are living with a rare condition.
The majority of rare conditions are caused by genetic changes. Genes are pieces of DNA that carry information for the growth, development, and function of our bodies.
Currently, little is known about how these genetic conditions impact on a person’s cognitive, behavioural, emotional, and social functioning (abilities collectively called “neuropsychological functioning”). However, people with these conditions are commonly reported to experience developmental delays, intellectual disability, and behaviour problems. These issues can make it difficult for a person to live and work independently. Better understanding of how genetic conditions affect a person’s development and daily functioning can improve our ability to help and support families living with these conditions.
To address this knowledge gap, we will invite people with rare developmental genetic conditions to complete a neuropsychological assessment. These assessments will take place in either a hospital, at school, or at home. We will use a combination of face-to-face, video call, and questionnaire methods to measure people’s thinking skills, behaviour problems, emotions, and social skills. Analysis of the data collected over the course of this 18-month study will help us to answer questions such as what neuropsychological functioning looks like in rare developmental genetic conditions and what is the best way to measure different skills within rare conditions.
REC name
Yorkshire & The Humber - Leeds West Research Ethics Committee
REC reference
25/YH/0024
Date of REC Opinion
29 Apr 2025
REC opinion
Further Information Favourable Opinion