Action Medical Research

NCT02227381 | Completed

• 2 other identifiers: 10/H1003/98SP4555
• Study Type: observational
• Target: 119
• Locations: 1 country
• Sites: 1

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.

Conditions

Learning Disabilities

Outcome Measures

Primary Outcomes (1)

• Genetic abnormality identified by microarray or Next Generation Sequencing

  Abnormalities identified upon results of testing, the normal timeframe for this is up to 6 months after collecting blood sample.

  up to 6 months following consent

Secondary Outcomes (1)

• Cost effectiveness vs normal care

  By the end of the study (December 2014)

Study Arms (1)

Microarray / NGS test

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

We will approach a cohort of patients with severe LD/seizures/behaviour problems who have presented to us in our genetic clinic for diagnosis over the past few years, but where the cause of their problems remains unknown. This will be our study population. In virtually all cases we will have performed routine diagnostic testing and will have stored DNA.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Manchester University NHS Foundation Trust: lead

Study Sites (1)

Central Manchester University Hospitals NHS Foundation Trust

Manchester, M13 9WL, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA extracted from whole blood, saliva or skin biopsy

MeSH Terms

Conditions

Learning Disabilities

Condition Hierarchy (Ancestors)

Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Jill Clayton Smith, MB ChB FRCP MD

  CMFT

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 26, 2014
• First Posted: August 28, 2014
• Study Start: February 1, 2011
• Primary Completion: December 1, 2013
• Study Completion: June 1, 2015
• Last Updated: December 4, 2018

Record last verified: 2018-11

Locations

GB (1)