Pelizaeus-Merzbacher disease (PMD)
Conditions
Interventions
Treatment with deferiprone (25 mg/kg/d in 2 doses)
Sponsors
VUmc
Eligibility
Inclusion criteria
Inclusion criteria: - Males with genetically proven PMD with a clinically relevant mutation in PLP1 (missense mutation or duplication/triplication) and an MRI compatible with the diagnosis. - Present age between 6 months and 7 years of age. - Connatal or classic form of the disease (defined as not being able to sit without support at age 18 months or, in younger children, a mutation predicting this form, e.g. PLP1 duplication or higher copy numbers; known missense mutations associated with severe forms).
Exclusion criteria
Exclusion criteria: - Clinically asymptomatic. - Comorbidity with another genetic defect. - Presence of an unrelated serious condition (eg, developmental anomaly, cardiac, liver, blood or kidney disease or malignancy). - Participation in another clinical study with therapeutic intervention. - Unable or unwilling to come to the VUmc site as required by the protocol. - Unable to undergo MRI due to metal-containing implants, such as cochlea implant, neurostimulator or pacemaker. - Family situation in which adherence to the study medication or follow-up procedures cannot be guaranteed. - Known allergy or hypersensitivity to deferiprone or to any of the other components of the formulation used in this study. - Iron deficiency (serum ferritin must be above 500 µg/l). If ferritin is lower, treatment with low-dose iron may be initiated and participation reconsidered after 3 months if ferritin is normalised. - History of neutropenia in the last 12 months (absolute neutrophile count < 1.5 X 109/l)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Gross motor function: Gross Motor Function Measure (GMFM) and Gross Motor Function Classification System for Metachromatic Leukodystrophy (GMFCS-MLD) | — |
Secondary
| Measure | Time frame |
|---|---|
| Quantitative brain MRI parameters (Diffusion Tensor Imaging (DTI), Chemical Shift Imaging (CSI), Neurite Orientation Dispersion and Density Imaging (NODDI), Myelin Water Fraction Imaging (MWFI)) Clinical parameters (General health and quality of life: Health Utility Index (HUI), Hand function: Manual Ability Classification System (MACS), Communication: Communication Function Classification System (CFCS), Swallowing function: Eating and Drinking Ability Classification System (EDACS)) Electrophysiological parameters (EEG) | — |
Contacts
Public ContactNicole Wolf
Amsterdam UMC
Outcome results
None listed