CACH
Conditions
Interventions
Guanabenz during at least 12 months, counted from the day the full study dose
has been achieved. All patients stay in the study until the end with a total
study duration of 4 years. So, the duration
Sponsors
Vrije Universiteit Medisch Centrum
Eligibility
Age
2 Years to 15 Years
Inclusion criteria
Inclusion criteria: 1. Genetically proven VWM with 2 clinically relevant mutations in one of the EIF2B1-5 genes and a brain MRI compatible with the diagnosis. 2. Male or female whose disease duration at trial entry is 8 years or shorter. 3. Disease onset before the age of 6 years. 4. Able to stand up and walk at least 10 steps with or without some support of one hand. 5. Lives within reasonable travel distance from Amsterdam. This means that the patients are expected to come from The Netherlands, Belgium, Germany, or France.
Exclusion criteria
Exclusion criteria: 1. Clinically asymptomatic. 2. Comorbidity with another genetic defect. 3. Presence of an unrelated serious condition (e.g., developmental anomaly, cardiac, liver or kidney disease). 4. Participation in another clinical study with therapeutic intervention. 5. Unable or unwilling to come to the VUmc site as required by the protocol. 6. Unable to undergo MRI due to metal-containing implants, such as cochlea implant, neurostimulator or pacemaker. 7. Family situation in which adherence to the study medication or follow-up procedures cannot be guaranteed. 8. Known allergy or hypersensitivity to guanabenz or to any of the other components of the formulation used in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| All adverse events and serious adverse events collected from the start of study treatment until the end of the study, applying the most recent version of the National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE, version 5.0, 27-Nov-2017). | — |
Secondary
| Measure | Time frame |
|---|---|
| • Guanabenz pharmacokinetic parameters • Quantitative brain MRI parameters: Diffusion Tensor Imaging (DTI), Chemical Shift Imaging (CSI), Neurite Orientation Dispersion and Density Imaging (NODDI), and Myelin Water Fraction Imaging (MWFI) • Clinical parameters: Health Utility Index (HUI), Euro-Quality of Life Instrument 5D, 5 levels (EQ-5D-5L), Euro-Quality of Life Instrument 5D, 5 levels (EQ-5D-Y), Gross Motor Function Classification - Metachromatic Leukodystrophy (GMFC-MLD), Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD), Gross Motor Function Measure (GMFM), Leiter International Performance Scale (LIPS), Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Communication Function Classification System (CFCS), Eating and Drinking Ability Classification System (EDACS) and Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3) • Survival | — |
Countries
Netherlands
Outcome results
None listed