hereditary white matter disorder metachromatic leukodystrophy
Conditions
Interventions
None listed
Sponsors
Vrije Universiteit Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Diagnosis of MLD confirmed by demonstrating a deficiency of ASA activity in leukocytes, increased urinary sulfatide levels and/or pathogenic ARSA mutations.
Exclusion criteria
Exclusion criteria: No informed consent (IC) given by the participant or given by parents/legal representative if necessary
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary study parameters will be the: Total pmTNS score (between 0 * 32) and nerve conduction velocities (m/s) of the radial nerve, ulnar nerve, tibial nerve and common peroneal nerve in MLD patients at three different time points, and the changes in the total pmTNS score and NCV over time. Correlation between levels of different sulfatide species and biomarkers (protein level) in CSF and blood and the severity of peripheral neuropathy in MLD patients at three different time points and over time. Changes in size, vascularity and echogenicity of the radial nerve, ulnar nerve, tibial nerve and common peroneal nerve in MLD patients over time. | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary study parameters will be the: Calculated differences in total pmTNS scores and nerve conduction velocities at baseline between different MLD patient subgroups. Absolute levels of sulfatide and elevated or lowered biomarkers in CSF and blood in MLD patients at three different time points and the calculated differences with these levels in CSF and blood in healthy controls. Correlation between size, vascularity and echogenicity of the radial nerve, ulnar nerve, tibial nerve and common peroneal nerve and different stages of the disease. | — |
Countries
Netherlands
Outcome results
None listed