Intelligent De-Immunization of Enzyme Replacement Therapies (IDERT)
Research type
Research Study
Full title
Intelligent De-Immunization of Enzyme Replacement Therapies (IDERT)
IRAS ID
340344
Contact name
E V Miller-Hodges
Contact email
Sponsor organisation
University of Edinburgh
Clinicaltrials.gov Identifier
NA, NA
Duration of Study in the UK
1 years, 6 months, 1 days
Research summary
Lysosomal Storage Disorders (LSDs) are rare, inherited metabolic disorders causing life-threatening, progressive disease affecting many body systems. They are caused by mutations in genes which code for lysosomal enzymes, which break down toxic substances. When these enzymes don’t work properly these substances build up, causing damage to the heart, kidneys, blood vessels, muscles, brain and skeleton, depending on which enzyme is affected. Fabry Disease is the most common LSD and causes nerve pain, strokes, and progressive heart and kidney disease.
Some LSDs can be treated with “enzyme replacement therapy" (ERT). This involves a weekly or fortnightly treatment given directly into the vein. However, current treatments are limited as the enzyme treatments are less efficient than natural enzymes and cannot access certain body tissues. They also cause immune reactions, leading to severe allergic-type reactions and further reducing the effectiveness of the enzyme. Patients find these side effects and the frequency of treatments, which are needed life-long, a major burden.
This project will use artificial intelligence programmes to design new enzyme treatments which will not generate an immune reaction and will work more effectively. This will improve current treatments and allow the faster and cheaper development of new enzymes for currently untreatable diseases. In order to make sure these new enzyme treatments do not cause an immune response, we need to test them directly against samples from people with the relevant disease.
This application relates solely to the clinical aspect of the project: a cross-sectional, observational study to collect blood and urine from patients with Fabry Disease, against which to test the new enzymes. We will also collect a 24 hour non-invasive blood pressure and vascular stiffness measurement to more accurately stratify the degree and severity of their Fabry Disease, in order to better understand their immune response.
REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
24/SW/0061
Date of REC Opinion
9 May 2024
REC opinion
Further Information Favourable Opinion