A Proof-of-Concept Study to Explore the Potential Efficacy of Deferiprone in Patients With Pelizaeus-Merzbacher disease (PMD)

A Proof-of-Concept Study to Explore the Potential Efficacy of Deferiprone in Patients With Pelizaeus-Merzbacher disease (PMD) - Deferiprone as possible treatment for Pelizaeus-Merzbacher disease

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON51993

Enrollment

Registered

2022-06-23

Start date

2021-04-04

Completion date

Unknown

Last updated

2025-08-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

hypomyelinating leukodystrophy white matter disease

Interventions

oral administration of deferiprone oral solution 25 mg/kg/d in 2 single doses

Eligibility

Age

No minimum to 11 Years

Inclusion criteria

Inclusion criteria: - 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 8 years of age. - 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

Exclusion criteria: - important comorbidity as another genetic disease - liver or kidney disease - neutropenia in patient's history - severe iron deficiency

Design outcomes

Primary

Measure	Time frame
Primary endpoint • Gross motor function: Gross Motor Function Measure (GMFM) and Gross Motor Function Classification System for Metachromatic Leukodystrophy (GMFCS-MLD)	—

Secondary

Measure	Time frame
Secondary endpoints • 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) * Euro-Quality of Life Instrument 5D, 5 levels (EQ-5D-Y, proxy) * Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3) • Electrophysiological parameters * EEG Exploratory endpoints • Exploratory search for biomarkers in body fluids. • Health economic effect (Institute for Medical Technology Assessment (iMTA) Medical Consumption Questionnaire (iMCQ) and Productivity Cost Questionnaire (iPCQ))	—

Measure

Time frame

Secondary endpoints • 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) * Euro-Quality of Life Instrument 5D, 5 levels (EQ-5D-Y, proxy) * Vineland Adaptive Behavior Scales, 3rd edition (Vineland-3) • Electrophysiological parameters * EEG Exploratory endpoints • Exploratory search for biomarkers in body fluids. • Health economic effect (Institute for Medical Technology Assessment (iMTA) Medical Consumption Questionnaire (iMCQ) and Productivity Cost Questionnaire (iPCQ))

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Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)