The Utility of Routine Pathology Results for Identifying Rare Diseases
Research type
Research Study
Full title
The Use of Routine Pathology Results to Identify Population Sub-sets Who May Benefit from Targeted Screening for Treatable Rare Diseases that Adversely Affect Life Span.
IRAS ID
158121
Contact name
Tim Reynolds
Contact email
Sponsor organisation
Burton Hospitals NHS Trust
Research summary
Lysosomal acid lipase (LAL) deficiency is a rare enzyme deficiency that is associated with premature vascular disease. It is identified in far fewer patients than the genetics suggest should be identified. This is probably because it
is rare disease, it is not thought of when patients see their doctor.There are a very large number of such rare diseases that doctors do not think about because they are very rare and therefore very unlikely. As a result, patients with these diseases are often diagnosed very late so potentially beneficial treatments may not be given when they could best assist the patient.
Every day thousands of pathology tests are carried out in laboratories across the country. If that data could be linked to identify features that may be suggestive of a rare disease, it may be possible to carry out screening programs to find people who could benefit from early treatment.
Ourpreliminary 'CESD' project has demonstrated that patients are very happy to have their results examined in this way and are keen to be tested. This project expands on the previous single disease project.
REC name
East Midlands - Leicester South Research Ethics Committee
REC reference
14/EM/1153
Date of REC Opinion
15 Oct 2014
REC opinion
Further Information Favourable Opinion