Small fibre neuropathy in Fabry*s disease

• Conditions: painful neuropathy; small diameter nerve fibre neuropathy; 10027424; 10034606

• Registration Number: NL-OMON31065
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 13 May 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 60

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

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The QST protocol will be expressed as Z-score QST profiles. Skin biopsies will<br /><br>be expressed as intra-epidermal nerve fibre densities (IENFD). An IENFD of less<br /><br>than the 5th percentile of healthy humans is considered to be abnormal.<br /><br>Autonomic function will be expressed as changes in heart rate and blood<br /><br>pressure in response to standing up, forced breathing and the Valsalva*s<br /><br>manoeuvre. The results will be compared to well-established normative values<br /><br>per age-group.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>None</p><br>