The Role of neuroinflammation in Gaucher Disease
Research type
Research Study
Full title
The role of neuroinflammation in Gaucher Disease; assessment using MRI and PET imaging.
IRAS ID
221128
Contact name
Aimee Donald
Contact email
Sponsor organisation
The University of Manchester
Duration of Study in the UK
0 years, 2 months, 1 days
Research summary
Gaucher Disease is a rare inherited disorder which causes build up of fatty material in cells predominantly in cells of the bone marrow. This results in enlargement of the spleen and liver, damage to the bone marrow (and therefore to bones) and in some patients, build up of fatty cells in the brain causing a progressive brain disease.
Some patients with brain disease become symptomatic very early in life, they suffer developmental delay, swallowing difficulties and seizures leading to premature death. Other patients have similar symptoms but they develop more slowly over years or decades; it is very difficult to predict how a patient will progress when they first present. Conventional brain imaging techniques have failed to demonstrate any consistent abnormalities in these patients.
Pathology studies in both humans and mice have demonstrated that specific areas in the brain become inflammed in these neurological forms of Gaucher Disease. We will use a novel imaging technique called Positron Emission Tomography (PET) to measure the contribution of this inflammation in correlation with clinical examination and neurocognitive function.
We hope to learn more about the neuropathology which occurs in this disease and see if there is greater neuroinflammation in those patients with more severe disease which would suggest that this technique could be used to 1 - give more accurate prognosis to families; 2- measure disease activity 3- measure responses to novel therapies in clinical trials.REC name
North West - Haydock Research Ethics Committee
REC reference
17/NW/0704
Date of REC Opinion
21 Dec 2017
REC opinion
Favourable Opinion