RecruitingRare disease

Study on the Safety and Effects of ION356 for Patients with Pelizaeus-Merzbacher Disease

Verified siteInvestigationalNo 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 a rare genetic disorder called Pelizaeus-Merzbacher Disease (PMD). PMD affects the nervous system and is caused by a problem with the PLP1 gene. The study will use a treatment called ION356, which is a special type of medicine known as an antisense oligonucleotide. This medicine is designed to target and work on the genetic level to help manage the disease. ION356 is given as an injection directly into the space around the spinal cord, a method known as intrathecal use.

The main goal of this study is to evaluate the safety and tolerability of ION356 in patients with PMD. Participants will receive the treatment and be monitored for any side effects or changes in their health. The study will also look at how the body processes the medicine, including how it moves through the blood and spinal fluid, and how it is eliminated from the body. This will help researchers understand the best way to use ION356 for treating PMD.

Throughout the study, participants will have regular check-ups, which may include blood tests, urine tests, and other health assessments to ensure their safety. The study is expected to continue for several years, allowing researchers to gather important information about the long-term effects and benefits of ION356 for individuals with Pelizaeus-Merzbacher Disease.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Upon joining the study, the patient must have a previous diagnosis of Pelizaeus-Merzbacher Disease (PMD) with genetic confirmation of PLP1 gene duplication. This must be confirmed by a laboratory that meets specific standards.
The patient should be male, aged between 2 and 17 years, and able to comply with all study requirements, including travel and participation in study procedures.
Step 2
Initial assessment
The initial assessment includes a clinical evaluation to confirm the diagnosis of PMD through clinical phenotype and brain imaging.
Baseline measurements are taken, including laboratory assessments, neurological exams, vital signs, and an electrocardiogram (ECG).
Step 3
Administration of medication
The medication ION356 is administered through an injection into the spinal canal, a method known as intrathecal use.
The purpose of this administration is to evaluate the safety and tolerability of the medication.
Step 4
Monitoring and follow-up
Throughout the study, the patient is monitored for any treatment-emergent adverse events (TEAEs) and serious adverse events (SAEs).
Regular assessments are conducted to track changes from baseline in laboratory tests, neurological exams, vital signs, and ECG results.
Step 5
Pharmacokinetic and pharmacodynamic evaluation
The study evaluates the concentration of ION356 in the blood and cerebrospinal fluid (CSF) over time.
Measurements include maximum plasma concentration, area under the concentration-time curve, elimination half-life, and concentrations before and after treatment.
Step 6
Completion of the study
The study is estimated to conclude by September 1, 2029.
Final assessments are conducted to ensure the patient's safety and to gather comprehensive data on the effects of ION356.

Who can join the trial?

4 criteria

Must have a previous diagnosis of **Pelizaeus-Merzbacher Disease (PMD)**, confirmed by a genetic test showing a duplication of the **PLP1 gene**. This test should be done by a certified lab.
Must have symptoms and brain scans that match a diagnosis of PMD.
Must be a male between the ages of 2 and 17 years old at the time of giving consent to participate.
Must be able and willing to follow all study requirements, including traveling to the study center, undergoing procedures, and attending scheduled visits, as determined by the study doctor.

Who cannot join the trial?

3 criteria

Patients who are not male cannot participate.
Patients who are not within the specified age range cannot participate.
Patients who are not part of the vulnerable population selected for the study cannot participate.

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Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

Amsterdam UMC
Responsive
Amsterdam, The Netherlands
Bicetre Hospital
Verified
Le Kremlin-Bicetre, France
Universitaetsmedizin Goettingen
Verified
Goettingen, Germany

Trial locations

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Investigated drugs

ION356 is a medication being studied for its safety and how it behaves in the body when given to patients with Pelizaeus-Merzbacher Disease. This medication is administered directly into the spinal canal, which is known as intrathecal administration. The trial aims to understand how well patients tolerate this treatment and to gather information on its effects.

2'-O-(2-Methoxyethyl) Modified Antisense Oligonucleotide Targeting Plp1 Pre-Mrna

What is already known about the treatment

ION356 – ION356 is administered intrathecally, meaning it is delivered directly into the spinal canal. It is currently in Phase 1b clinical trials, focusing on its safety, pharmacokinetics, and pharmacodynamics in patients with Pelizaeus-Merzbacher Disease. This medication is being investigated for its potential to treat this rare genetic disorder, which affects the central nervous system. The mechanism of action at the molecular level involves modulating specific genetic expressions to address the underlying causes of the disease. ION356 is classified under investigational drugs, as it is still undergoing clinical evaluation.

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, the protective covering that surrounds nerve fibers in the brain. Symptoms often begin in infancy and can include developmental delays, involuntary eye movements, and muscle stiffness or weakness. As the disease progresses, individuals may experience difficulty with coordination and balance, as well as challenges with speech and swallowing. The severity and progression of symptoms can vary widely among those affected. The condition is typically inherited in an X-linked recessive pattern, primarily affecting males.