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

VUmc0 个研究点目标入组 7 人开始时间: 待定最近更新: 2024年2月28日

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•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)

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