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

Phase 2

• Conditions: hypomyelinating leukodystrophy; white matter disease; 10010335

• Registration Number: NL-OMON51993
• Lead Sponsor: Vrije Universiteit Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 9 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 10

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

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

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Primary endpoint<br /><br>• Gross motor function: Gross Motor Function Measure (GMFM) and Gross Motor<br /><br>Function Classification System for Metachromatic Leukodystrophy (GMFCS-MLD)</p><br>