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Study of Intrathecal Cebsulfase Alfa for Children with Late Infantile Metachromatic Leukodystrophy

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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 Metachromatic Leukodystrophy (MLD), specifically the late infantile form. MLD affects the nervous system, leading to a decline in motor skills and other functions. The study is testing a treatment called cebsulfase alfa, also known by its code name SHP611. This treatment is administered directly into the spinal fluid, a method known as intrathecal use, using a special device designed for long-term access.

The purpose of the study is to evaluate how effective the intrathecal administration of SHP611 is in delaying the loss of movement abilities in children with late infantile MLD. Participants in the study will receive the treatment over a period of time, and their progress will be compared to data from an external control group. The study aims to observe whether the treatment can help maintain motor function and delay the progression of the disease.

Throughout the study, participants will undergo regular assessments to monitor their motor skills and overall health. The study will last for a set period, during which the effects of the treatment will be closely observed and recorded. The goal is to gather valuable information that could lead to improved treatment options for children affected by this challenging condition.

The research process

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

  1. Step 1

    Joining the study

    Upon joining the study, the participant is confirmed to have a diagnosis of late metachromatic leukodystrophy (MLD).

    The participant's age and symptoms are assessed to ensure they meet the study's inclusion criteria.

  2. Step 2

    Initial assessment

    An initial assessment is conducted to evaluate the participant's gross motor function using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD).

    Baseline levels of sulfatides in the cerebrospinal fluid (CSF) are measured.

  3. Step 3

    Treatment administration

    The participant receives the medication cebsulfase alfa, also known as rhASA, administered intrathecally, which means it is injected into the space around the spinal cord.

    The treatment is given as a solution for injection, with the frequency and dosage determined by the study protocol.

  4. Step 4

    Ongoing monitoring

    The participant's motor function is regularly monitored to track any changes or progression in their condition.

    Regular assessments are conducted to measure changes in CSF sulfatides levels and gross motor function.

  5. Step 5

    Evaluation of outcomes

    The primary outcome is evaluated by measuring the time to loss of locomotion, defined as progression to GMFC-MLD category 5 or higher, or death, whichever occurs first, up to Week 106.

    Secondary outcomes include maintaining gross motor function and changes in expressive language abilities.

  6. Step 6

    End of study

    The study is expected to conclude by March 2025, with final assessments conducted to evaluate the long-term effects of the treatment.

    Participants' data is analyzed to determine the efficacy and safety of the treatment.

Who can join the trial?

6 criteria

  • The patient must have a confirmed diagnosis of **Metachromatic Leukodystrophy (MLD)**, which includes low **ASA activity** in white blood cells and high levels of **sulfatides** in urine. ASA activity refers to a specific enzyme activity, and sulfatides are substances found in the body.
  • The patient must have a walking problem due to **spastic ataxia** or weakness caused by MLD, confirmed by a doctor by 30 months of age for certain groups, or show minimal or early symptoms within specific age ranges for other groups. **Spastic ataxia** is a condition that affects movement and coordination.
  • The patient's age at the time of consent must fit within specific age ranges for different groups: 18 to 48 months, 18 to 72 months, 6 to less than 18 months, or 12 to less than 18 months, depending on the group.
  • The patient's **GMFC-MLD category** at screening must match specific categories for different groups. GMFC-MLD is a scale used to assess motor function in MLD patients.
  • The patient and their parent or representative must be able to follow the study's procedures and requirements.
  • The patient's parent or legally authorized representative must provide written consent before any study-related activities begin. This means agreeing in writing to participate in the study.

Who cannot join the trial?

4 criteria

  • Patients who do not have a confirmed diagnosis of Late Metachromatic Leukodystrophy (MLD) cannot participate. MLD is a rare genetic disorder that affects the nervous system.
  • Patients who are not within the specified age range for the study cannot participate. The study is for children with late infantile MLD.
  • Patients who have already lost the ability to move independently, as indicated by a specific level in the Gross Motor Function Classification, cannot participate. This classification is a way to measure how well a person can move.
  • Patients who are part of a vulnerable population, which means they might need special protection or care, cannot participate.
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Investigated drugs

SHP611 is a medication being studied for its effects on children with late infantile Metachromatic Leukodystrophy (MLD). It is administered directly into the spinal canal, a method known as intrathecal administration. The goal of this study is to see if SHP611 can help delay the loss of movement abilities in these children, compared to data from a control group.

What is already known about the treatment

SHP611 – This medication is administered intrathecally, meaning it is delivered directly into the spinal canal. It is currently being studied in clinical trials for its potential to treat late infantile metachromatic leukodystrophy (MLD), a rare genetic disorder. The main therapeutic goal is to delay the loss of movement abilities in affected children. At the molecular level, SHP611 is designed to address the underlying enzyme deficiency that causes MLD, potentially slowing disease progression. It falls under the pharmacological classification of enzyme replacement therapies.

Investigated diseases

Late Metachromatic Leukodystrophy (MLD) – This is a genetic disorder that affects the nervous system, primarily in children. It is characterized by the accumulation of fats called sulfatides, which leads to the destruction of the protective covering of nerve cells, known as myelin. As the disease progresses, individuals experience a decline in motor skills, including walking and coordination. Over time, this can lead to significant loss of movement and muscle control. The condition also affects cognitive functions, leading to difficulties in thinking and memory. Symptoms typically worsen over time, impacting the quality of life.
Trial detailsLast updated 2 Oct 2026
Age0-17PhasePhase IITrial ID2024-514402-31-00Protocol codeSHP611-201Estimated enrolment26 patientsSponsorShire Human Genetic Therapies Inc.

sourced from the EU Clinical Trials Register and site verification

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On this site, “treatment” means an investigational medicine being studied in a clinical trial. Its safety and efficacy for the use being studied have not yet been confirmed, some participants may receive a placebo or a comparator medicine, and taking part does not guarantee any health benefit. The decision to take part is made by the doctor at the research site. This site is for information only and does not replace medical advice.

This service is not affiliated with the European Commission, the EMA, or the official CTIS system. Most information comes from publicly available international clinical-trial registries, supplemented by data from academic sites, national regulators and commercial sponsors. On this site, “treatment” and “therapy” mean a medicine being tested in a clinical trial. Its safety and effectiveness in the use being studied are not yet confirmed, some participants may receive a placebo or a comparator, and taking part does not guarantee a health benefit. The doctor at the research site decides who can take part. This site provides information, not medical advice. Certain content and visual elements on this website have been generated or enhanced using artificial intelligence (AI).