Biomarkers of Neuropathy and Pain outcomes in Fabry Disease - Amicus
Research type
Research Study
Full title
Establishing Novel Ophthalmic Markers for assessing neuropathy and pain outcomes in patients with Fabry disease- A Longitudinal Study
IRAS ID
260825
Contact name
Mitra Tavakoli
Contact email
Sponsor organisation
University of Exeter
Duration of Study in the UK
3 years, 6 months, 0 days
Research summary
(i) Why? The main aim of the study is to investigate if Corneal Confocal Microscopy (CCM) can provide a novel means of diagnosing, assessing progression and monitoring treatment benefit for neurological abnormalities in patients with Fabry disease. Furthermore, if confirmed identifying early nerve damage may provide an opportunity to define those individuals who progress and also develop the renal and heart complications which result in premature mortality.
(ii) What? Our primary hypothesis is that the assessment of corneal nerve morphology using corneal confocal microscopy (CCM) is a valid surrogate end point for detecting neuropathy in patients with Fabry disease (FD). Accurate detection of neuropathy is very important to define at risk patients, anticipate deterioration, and assess new therapies. For patients with Fabry disease a valid surrogate is vital and should quantify nerve damage in a rapid, reiterative and non-invasive manner to enable Detection, Anticipate progression/deterioration and Assess therapeutic efficacy of various available treatments. The results will lead to:
1. Establish that corneal nerve fibre damage as assessed with CCM can be detected before other measures of neuropathy in all patients with Fabry disease in particular female patients with Fabry disease thereby establishing its place in the early diagnosis of neuropathy.
2. By establishing small fibre damage this will provide an explanation for the symptoms in these patients and also help identify those patients who progress in their neuropathy and other complications and as such identify those patients who are potentially amenable to ERT and oral monography.
3. Investigate the role of treatment in neuropathy in patients with Fabry disease.
(iii) Who? We aim to study groups of patients with: Fabry disease in no treatment,and those will start treatment with no previous history of Fabry treatment and a group of healthy control subjects. We then will assess the role of treatment at follow-up visit.
(iv) Where? The study will be conducted at Fabry Centre at Queens Elizabeth Hospital Birmingham. Healthy subjects will be recruited also from Exeter 10,000 and will be studied at University of Exeter and Royal Devon and Exeter Hospital.
(v) How? The study last around 36 months. This is a follow-up study and each participant will attend at least for two visits over the term of study (apart from the group of patients that start the treatment and those will be assessed every 6 months). A comprehensive medical and neurological evaluation will be performed including detailed assessment of symptoms, signs, co-morbidities. Novel ophthalmic tests will be performed at each patient in each visit including Corneal confocal microscopy, Optical Coherence Topography (OCT) and Optical Coherence Topography Angiography (OCT-A). These ophthalmic tests are totally non-invasive, painless and take less than 30 minutes to perform. Each test will be conducted at each visit and recorded on the case report form.REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
19/SW/0148
Date of REC Opinion
28 Oct 2019
REC opinion
Further Information Favourable Opinion