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

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What is this study about?

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.

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 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 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 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 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 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 Study?

  • 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 Study?

  • 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.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

No sites found in this category

Other Sites

Site Name City Country Status
Fondation Lenval Nice Nice France
Universitaetsklinikum Tuebingen AöR Tuebingen Germany
Hospital Universitario De Cruces Barakaldo Spain
Ospedale Pediatrico Bambino Gesu’ Rome Italy
University General Hospital Attikon General Hospital Of West Attica H Agia Varvara Chaidari Greece
Bicetre Hospital Le Kremlin-Bicetre France
Ueprmdnuwv Mnnjdvp Cxhnqi Hvgvgmdxblopwesur Hamburg Germany
Ufzsduvywt Od Azlzfvc Edegem Belgium
Hcpzdipx Vydb dqczakdd Barcelona Spain

Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
Belgium Belgium
Not recruiting
13.05.2019
France France
Not recruiting
13.05.2019
Germany Germany
Not recruiting
13.05.2019
Greece Greece
Not recruiting
13.05.2019
Italy Italy
Not recruiting
13.05.2019
Spain Spain
Not recruiting
13.05.2019

Trial locations

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.

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 ID:
2024-514402-31-00
Protocol code:
SHP611-201
NCT ID:
NCT03771898
Trial Phase:
Therapeutic exploratory (Phase II)

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