A Proof-of-Concept Study to Explore the Potential Efficacy of Deferiprone in Patients With Pelizaeus-Merzbacher disease (PMD)
- Conditions
- Pelizaeus-Merzbacher disease (PMD)
- Registration Number
- NL-OMON27427
- Lead Sponsor
- VUmc
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 7
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).
- 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)
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Gross motor function: Gross Motor Function Measure (GMFM) and Gross Motor Function Classification System for Metachromatic Leukodystrophy (GMFCS-MLD)
- Secondary Outcome Measures
Name Time Method Quantitative brain MRI parameters (Diffusion Tensor Imaging (DTI), Chemical Shift Imaging (CSI), Neurite Orientation Dispersion and Density Imaging (NODDI), Myelin Water Fraction Imaging (MWFI))<br>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))<br>Electrophysiological parameters (EEG)