Action Medical Research

Using New Genetic Technology to Diagnose Neurodevelopmental Disorders

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02227381

Enrollment

119

Registered

2014-08-28

Start date

2011-02-28

Completion date

2015-06-30

Last updated

2018-12-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Learning Disabilities

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Individuals with severe learning disability associated with either seizures, movement or behaviour problems who had previously undergone routine investigation but where no cause had been identified for their problems

Exclusion criteria

* Individuals with SLD where the cause is already known * Individuals where informed consent cannot be obtained for participation

Design outcomes

Primary

Measure	Time frame	Description
Genetic abnormality identified by microarray or Next Generation Sequencing	up to 6 months following consent	Abnormalities identified upon results of testing, the normal timeframe for this is up to 6 months after collecting blood sample.

Secondary

Measure	Time frame	Description
Cost effectiveness vs normal care	By the end of the study (December 2014)	This analysis will be performed for all participants following close of recruitment & follow up, and will be completed by the time the study ends.

Countries

United Kingdom

Outcome results