Action Medical Research

NCT ID: NCT02227381

Last Updated: 2018-12-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

119 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-02-28

Study Completion Date

2015-06-30

Brief Summary

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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.

Detailed Description

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Conditions

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Learning Disabilities

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Microarray / NGS test

No interventions assigned to this group

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Manchester University NHS Foundation Trust

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jill Clayton Smith, MB ChB FRCP MD

Role: PRINCIPAL_INVESTIGATOR

CMFT

Locations

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Central Manchester University Hospitals NHS Foundation Trust

Manchester, , United Kingdom

Site Status

Countries

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United Kingdom

Other Identifiers

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SP4555

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

10/H1003/98

Identifier Type: -

Identifier Source: org_study_id

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