Action Medical Research
NCT02227381 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 119
Last updated 2018-12-04
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
Sponsors & Collaborators
-
Manchester University NHS Foundation Trust
lead OTHER_GOV
Principal Investigators
-
Jill Clayton Smith, MB ChB FRCP MD · CMFT
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2011-02-28
- Primary Completion
- 2013-12-31
- Completion
- 2015-06-30
Countries
- United Kingdom
Study Locations
More Related Trials
-
Targeted Next Generation Sequencing and Intellectual Disability
NCT02889068 ·Status: COMPLETED
-
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
NCT02340871 ·Status: UNKNOWN
-
Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles
NCT05643274 ·Status: COMPLETED
-
Clinical and Molecular Studies in Families With Inherited Eye Disease
NCT02771236 ·Status: RECRUITING
-
Omic Approaches to Neurodevelopmental Disabilities
NCT06337396 ·Status: COMPLETED ·Phase: NA
-
Finding Genes for Rare Diseases
NCT02724995 ·Status: WITHDRAWN
-
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
NCT01375543 ·Status: COMPLETED
-
Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02136849 ·Status: COMPLETED
-
Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease
NCT04620980 ·Status: UNKNOWN
-
Initiative for Clinical Long-read Sequencing
NCT06060184 ·Status: NOT_YET_RECRUITING ·Phase: NA
-
Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
NCT03287193 ·Status: RECRUITING
-
Genome Medical Sequencing for Gene Discovery
NCT01087320 ·Status: RECRUITING
-
Effect of Functional Genetic Polymorphisms on Brain Morphology and Function
NCT01035723 ·Status: COMPLETED
-
Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.
NCT06706934 ·Status: NOT_YET_RECRUITING
-
Evaluating Face-Recognition Technology in Syndrome Diagnosis
NCT04709965 ·Status: COMPLETED ·Phase: NA
-
Developing an Interdisciplinary Pharmacogenomic Treatment Approach to Reduce Medication Burden and Improve Outcomes
NCT01274065 ·Status: COMPLETED
-
Establishment of Genetic Basis for Neurological Disease by Genetic Screening
NCT03322306 ·Status: ENROLLING_BY_INVITATION
-
Research and Characterization of New Genes Involved in Intellectual Disability
NCT01867554 ·Status: COMPLETED
-
Identifying New Genetic Causes to Development Disorders
NCT03283852 ·Status: RECRUITING
-
Genetic Testing in Detection of Late-Onset Hearing Loss
NCT00511381 ·Status: COMPLETED
-
Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)
NCT06871696 ·Status: RECRUITING
-
Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
NCT03971292 ·Status: UNKNOWN
-
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
NCT04399694 ·Status: COMPLETED
-
Observational Study of Advanced Data Analytics in Genetic Conditions
NCT05657405 ·Status: RECRUITING
-
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
NCT06595940 ·Status: RECRUITING