The objective is to get insight in the pathophysiology of small fibre neuropathy in Fabry patients. Insight in the pathophysiology will be obtained by:1. Describing results obtained by the QST protocol, skin biopsies and autonomic function tests in…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Peripheral neuropathies
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The QST protocol will be expressed as Z-score QST profiles. Skin biopsies will
be expressed as intra-epidermal nerve fibre densities (IENFD). An IENFD of less
than the 5th percentile of healthy humans is considered to be abnormal.
Autonomic function will be expressed as changes in heart rate and blood
pressure in response to standing up, forced breathing and the Valsalva*s
manoeuvre. The results will be compared to well-established normative values
per age-group.
Secondary outcome
None
Background summary
Small fibre neuropathy (SFN), an axonal sensory neuropathy affecting
unmyelinated (C) and thinly myelinated (A*) fibres, is one of the key features
of Fabry*s disease. Currently, the pathophysiology is poorly understood. By
applying (pain) questionnaires, the QST protocol, skin biopsies and autonomic
function tests to Fabry patients of different age groups, we want to get
insight in the pathophysiology of small fibre neuropathy in male Fabry patients
and female carriers.
Study objective
The objective is to get insight in the pathophysiology of small fibre
neuropathy in Fabry patients.
Insight in the pathophysiology will be obtained by:
1. Describing results obtained by the QST protocol, skin biopsies and autonomic
function tests in male Fabry patients and female carriers;
2. Looking for associations between results obtained by the QST protocol, skin
biopsies and autonomic function tests, stratified to different age-groups and
specific measures of disease severity, i.e. pain severity, renal function, left
ventricular mass and cerebral manifestations.
Study design
Cross sectional cohort study
Study burden and risks
Included patients will undergo questionnaires, a physical examination,
quantitative sensory testing, a skin biopsy and autonomic function tests. The
QST protocol and autonomic function tests take about 60 minutes each but are
otherwise not harmful or distressing. Skin biopsies are temporarily painful but
without risk.
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Meibergdreef 9
1105 AZ Amsterdam
Nederland
Listed location countries
Age
Inclusion criteria
1. Age 12 years or older
2. A diagnosis of Fabry disease as proven by enzyme activity (males) or DNA mutation analysis (females)
Exclusion criteria
1. Pre-existent venous insufficiency, confirmed by echo Doppler or a history of ulcus cruris
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL16407.018.07 |