NCT02227381

Action Medical Research

Using New Genetic Technology to Diagnose Neurodevelopmental Disorders

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 119 (actual)
• Sponsor: Manchester University NHS Foundation Trust · Other Government
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

Learning disability affects 3% of the population. Severe types of learning disability are more likely to have an underlying genetic cause but diagnosis is difficult because many different genetic abnormalities may be involved. Obtaining a diagnosis is important so that patients can be managed appropriately and their families can be given accurate information. We aim to use new types of genetic testing which will make it possible to screen for several different genetic abnormalities which cause learning disability at the same time, so improving the accuracy and speed of diagnosis in the group of patients with severe learning disability. We will focus particularly on patients where seizures and behavioural problems are also present.This will enable more patients to be diagnosed accurately, reduce the number of hospital appointments needed and ultimately be more cost- effective.

Conditions

• Learning Disabilities

Timeline

• Start date: 2011-02-01
• Primary completion: 2013-12-01
• Completion: 2015-06-01
• First posted: 2014-08-28
• Last updated: 2018-12-04

Locations

1 site across 1 country: United Kingdom