Pilot-study: serum neurofilament light chains as a marker for neurological manifestation in fabry disease

Recruiting

Conditions: Fabry Disease
E75.2
Other sphingolipidosis

Registration Number: DRKS00024662

Lead Sponsor: Medizinische Universität Wien

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 90

Inclusion Criteria

Inclusion criteria - FD patients with neurological manifestations:
- Confirmed diagnosis of Fabry disease (presence of a disease-relevant GLA variant).
- Neurological manifestations (ascertained in clinical neurological status examinations, MRI examinations or patient history) at at least one examination time point.
- Age 18-80 years, ability to give informed consent.

Inclusion criteria - FD patients without neurological manifestations:
- Confirmed diagnosis of Fabry disease (presence of a disease-relevant GLA variant).
- No neurological manifestations (raised in clinical neurological status examinations, MRI examinations or patient history) at both examination time points.
- Age 18-80 years, ability to give informed consent.

Inclusion criteria - healthy subjects:
- No present neurological complaints or neurological diseases, especially no diseases already associated with elevated sNfL concentrations.

Exclusion Criteria

Missing or doubtful ability to give informed consent.

Study & Design

Study Type: observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
The null hypothesis is (H0):<br>The sNfL levels of FD patients, regardless of neurological manifestations and healthy control subjects, measured at baseline and after one year show no significant difference at both time points.<br><br>The alternative hypothesis is (HA):<br>The sNfL levels of FD patients, regardless of neurological manifestations, are significantly increased compared with healthy control subjects measured at baseline and after one year at at least one time point.

Secondary Outcome Measures

Name	Time	Method
The sNfL concentrations of FD patients with neurological manifestations determined at two time points (baseline and after one year) is significantly higher at least at one time point compared with FD patients without neurological manifestations.