DEFERIPRONE for Pelizaeus-Merzbacher disease

Inclusion criteria

• {"criterion_text":"- Male whose age at screening is ≤ 8 years"}
• {"criterion_text":"- Genetically proven PMD with a hemizygous clinically relevant missense mutation in the PLP1 gene or a PLP1 triplication (or higher copy numbers) and a brain MRI compatible with the diagnosis."}
• {"criterion_text":"- Lives within reasonable travel distance from Amsterdam."}
• {"criterion_text":"- Possibility of weekly capillary blood sampling at or close to home."}
• {"criterion_text":"- Connatal or classic form of the disease (defined as not being able to sit without support and/or a mutation predicting this form, e.g. PLP1 duplication or higher copy numbers; known missense mutations associated with severe forms)."}

Exclusion criteria

• {"criterion_text":"- Patients with PLP1 duplications."}
• {"criterion_text":"- Iron deficiency"}
• {"criterion_text":"- History of neutropenia in the last 12 months (absolute neutrophile count < 1.5 X 109/l)"}
• {"criterion_text":"- Clinically asymptomatic"}
• {"criterion_text":"- Comorbidity with another genetic defect, e.g. Down syndrome or other genetic disorders with impaired development."}
• {"criterion_text":"- Presence of an unrelated serious condition (e.g. developmental anomaly, significant cardiac, liver, blood or kidney disease or malignancy)."}
• {"criterion_text":"- Participation in another clinical study with therapeutic intervention."}
• {"criterion_text":"- Unable to undergo MRI due to metal-containing implants, such as cochlea implant, neurostimulator or pacemaker."}
• {"criterion_text":"- Known allergy or hypersensitivity to deferiprone or to any of the other components of the formulation used in this study."}

Primary endpoints

• {"endpoint_text":"- Motor function as measured by the gross motor function measurement tool (GMFM-88). (Paulson and Vargus-Adams, 2017) and using the GMF scoring for metachromatic leukodystrophy, MLD-GMF score (Kehrer et al., 2011)","definition_or_measurement_approach":"Measured using the GMFM-88 instrument and the MLD-GMF scoring methodology (references cited in protocol text: Paulson and Vargus-Adams, 2017; Kehrer et al., 2011)."}

Secondary endpoints

• {"endpoint_text":"- Quantitative brain MRI parameters: Diffusion Tensor Imaging (DTI); Chemical Shift Imaging (CSI); Neurite Orientation Dispersion and Density Imaging (NODDI); Density Imaging (NODDI); Myelin Water Fraction Imaging (MWFI)","definition_or_measurement_approach":"Assessment using quantitative brain MRI modalities including DTI, CSI, NODDI and Myelin Water Fraction Imaging to evaluate myelination and white matter integrity."}
• {"endpoint_text":"- Electrophysiological parameters: EEG","definition_or_measurement_approach":"Electrophysiological assessment via EEG to evaluate functional CNS connectivity."}
• {"endpoint_text":"- Clinical parameters: General health and quality of life: Health Utility Index (HUI); Hand function: Manual Ability Classification System (MACS); Manual Ability Classification System (MACS); Communication Function Classification System (CFCS); Swallowing function: Eating and Drinking Ability Classification System (EDACS); Euro-Quality of Life Instrument 5D, 5 levels (EQ-5D-Y, proxy); Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3)","definition_or_measurement_approach":"Clinical assessments using standardized instruments: HUI, MACS, CFCS, EDACS, EQ-5D-Y (proxy) and Vineland-3 to evaluate health, hand function, communication, swallowing and adaptive behavior/quality of life."}

Netherlands

Latest Decision Or Authorization Date

11-05-2026

Number Of Sites

1

Number Of Participants

10

Primary sponsor

Full Name

Amsterdam UMC Stichting

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Netherlands

Third parties

• {"country":"","full_name":"ZonMW","duties_or_roles":"Source of monetary support","organisation_type":""}