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

Conditions

Pelizaeus-Merzbacher disease

Brief summary

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)

Detailed description

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), Electrophysiological parameters: EEG, 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)

Related papers

No related papers found yet.

Interventions

DRUGFerriprox 100 mg/ml oral solution

Eligibility

Sex/Gender

Male

Age

0 Years to 17 Years

Design outcomes

Primary

Measure	Time frame
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)	—

Secondary

Measure	Time frame
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), Electrophysiological parameters: EEG, 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)	—

Measure

Time frame

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), Electrophysiological parameters: EEG, 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)

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Countries

Netherlands

Outcome results

None listed