RecruitingRare disease

Studying the Effects of Deferiprone on Motor Function in Children with Pelizaeus-Merzbacher Disease

Verified siteRegistered drugNo placebo

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying the effects of a medication called deferiprone in children with a rare genetic disorder known as Pelizaeus-Merzbacher disease (PMD). PMD affects the nervous system and can lead to problems with movement and coordination. The medication being tested, deferiprone, is taken as an oral solution, which means it is a liquid that is swallowed.

The purpose of this study is to explore how deferiprone might help improve the ability to move in children with PMD. During the study, participants will take the medication and their progress will be monitored over time. This will involve regular check-ups and assessments to see how their motor skills, such as sitting and moving, are affected by the treatment. Some participants may receive a placebo, which looks like the medication but does not contain the active ingredient.

The study will also include various tests to gather more information about the effects of deferiprone. These tests may involve brain scans, such as MRI, and other assessments to evaluate general health, quality of life, and specific abilities like hand function and communication. The goal is to understand whether deferiprone can make a positive difference for children with PMD and to gather data that could help in developing future treatments.

The research process

The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
The study is designed for male children aged 8 years or younger with a confirmed diagnosis of Pelizaeus-Merzbacher disease (PMD).
Eligibility requires a specific genetic mutation and a brain MRI that supports the diagnosis.
Participants must live within a reasonable travel distance from Amsterdam and be able to have weekly blood samples taken at or near their home.
Step 2
Medication administration
The medication used in the study is Ferriprox 100 mg/ml oral solution, which contains the active substance deferiprone.
The medication is administered orally. The specific dosage and frequency will be determined by the study protocol and communicated to the participant.
Step 3
Monitoring and assessments
The primary goal is to evaluate the effect of deferiprone on motor function using the gross motor function measurement tool (GMFM-88).
Secondary assessments include brain imaging techniques such as Diffusion Tensor Imaging (DTI) and other MRI parameters, as well as electrophysiological tests like EEG.
Additional evaluations will focus on general health, quality of life, hand function, communication, swallowing, and adaptive behavior using various standardized tools.
Step 4
Duration of the trial
The estimated end date for the trial is May 3, 2027.
The recruitment of participants is expected to start on May 3, 2024.

Who can join the trial?

7 criteria

The participant must be a male child.
The participant's age must be 8 years or younger at the time of screening.
The participant must have a genetically confirmed diagnosis of Pelizaeus-Merzbacher disease (PMD). This means there is a specific change in the PLP1 gene known as a missense mutation or a triplication (or more copies) of the gene.
The participant must have a brain MRI that supports the diagnosis of PMD. An MRI is a type of scan that takes pictures of the brain.
The participant must live within a reasonable distance for travel to the study location.
There must be a possibility for the participant to have weekly blood samples taken from a small prick on the skin, either at home or nearby.
The participant must have either the connatal or classic form of PMD. This means the child is not able to sit without support, or has a genetic mutation that predicts this form of the disease, such as a PLP1 duplication or other known severe mutations.

Who cannot join the trial?

3 criteria

Children who do not have Pelizaeus-Merzbacher disease cannot participate.
Girls cannot participate; only boys are eligible.
Children outside the specified age range cannot participate. The age range is not specified here, but it is important to check if your child fits the required age group.

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Amsterdam UMC
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Amsterdam, The Netherlands

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Investigated drugs

Deferiprone is a medication being studied for its potential to improve movement abilities in children with Pelizaeus-Merzbacher disease (PMD). This study aims to see if deferiprone can help with motor functions, which are the skills needed for movement and coordination.

Deferiprone

What is already known about the treatment

Deferiprone – Deferiprone is administered orally in the form of tablets or liquid. It is currently being studied in clinical trials for its potential use in treating Pelizaeus-Merzbacher disease, a rare genetic disorder. The main therapeutic indication being explored is the improvement of gross motor function in affected children. At the molecular level, deferiprone acts as an iron chelator, binding to excess iron in the body and facilitating its removal, which may help in reducing oxidative stress and improving neurological function. It is classified pharmacologically as an iron chelating agent.

Investigated diseases

Pelizaeus-Merzbacher disease – This is a rare genetic disorder that affects the central nervous system. It is characterized by the improper development of myelin, which is the protective covering of nerve fibers. Symptoms often begin in infancy and can include involuntary eye movements, delayed motor skills, and muscle stiffness. As the disease progresses, individuals may experience difficulties with coordination and balance. The severity and progression of symptoms can vary widely among those affected. It is a lifelong condition that primarily impacts motor function and neurological development.