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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00024662

Enrollment

Registered

2021-02-26

Start date

2021-03-14

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Fabry Disease E75.2

Interventions

Group 1: Two blood samples (baseline, after one year) will be collected from a total of 90 individuals fulfilling the criteria mentioned in 2.2 to determine NfL concentrations. In addition, further cl

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

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

Exclusion criteria: Missing or doubtful ability to give informed consent.

Design outcomes

Primary

Measure	Time frame
The null hypothesis is (H0): 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. The alternative hypothesis is (HA): 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.	—

Measure

Time frame

The null hypothesis is (H0): 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. The alternative hypothesis is (HA): 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

Measure	Time frame
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.	—

Countries

Austria

Contacts

Public ContactMarkus Ponleitner

Universitätsklinik für NeurologieMedizinische Universität Wien

markus.ponleitner@meduniwien.ac.at0043 1 40400 31170

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026