Not recruitingRare disease

Study on the Effects of Atidarsagene Autotemcel for Patients with Late Juvenile 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). MLD is a condition that affects the nervous system and is caused by changes in the genes that lead to a deficiency in an important enzyme. The study is testing a treatment known as OTL-200, which is a type of gene therapy. Gene therapy is a method that aims to correct or replace faulty genes in order to treat diseases. In this case, OTL-200 is designed to address the genetic issues causing MLD.

The purpose of the study is to evaluate the effects of OTL-200 on patients with a specific form of MLD known as Late Juvenile Metachromatic Leukodystrophy. Participants in the study will receive a single infusion of the treatment, which is administered through a vein. The study will monitor changes in the body, particularly in the brain and spinal fluid, over a period of time to see how the treatment affects the disease. This includes looking at enzyme activity levels and other markers that indicate how the disease is progressing or improving.

The trial is open-label, meaning that both the researchers and participants know what treatment is being given. It is also non-randomized, which means that all participants will receive the OTL-200 treatment rather than being randomly assigned to different groups. The study will continue to observe participants for several years to gather comprehensive data on the safety and effectiveness of the treatment. This research aims to provide valuable insights into how gene therapy can be used to treat MLD and potentially improve the quality of life for those affected by this challenging condition.

The research process

The trial runs in 5 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, eligibility is confirmed through a documented diagnosis of Metachromatic Leukodystrophy (MLD). This includes specific genetic and biochemical criteria.
Participants must be under 17 years of age and meet certain cognitive and motor function requirements.
Step 2
Treatment preparation
Before receiving the treatment, participants undergo a series of baseline assessments. These include evaluations of brain function and other health indicators.
Participants must comply with specific contraceptive requirements if applicable.
Step 3
Administration of OTL-200
The treatment involves a single infusion of OTL-200, a gene therapy product known as Libmeldy. It is administered intravenously as a dispersion for infusion.
The infusion is designed to deliver a specific number of cells per milliliter to the participant.
Step 4
Post-treatment monitoring
After the infusion, participants are monitored for changes in specific health markers over a period of 24 months.
Key assessments include changes in enzyme activity levels in the cerebrospinal fluid (CSF) and brain, as well as other health indicators.
Step 5
Follow-up assessments
Participants undergo regular follow-up assessments to evaluate the long-term effects of the treatment.
These assessments include monitoring for any adverse effects and changes in cognitive and motor functions.

Who can join the trial?

7 criteria

The patient must have a confirmed diagnosis of **Metachromatic Leukodystrophy (MLD)**. This means they have low activity of an enzyme called **ARSA** and have two genetic changes causing the disease. If there is a new genetic change, a urine test must show high levels of a substance called **sulfatide**.
The patient must have a specific genetic type related to a form of MLD known as the **LJ variant**.
If the patient shows symptoms, they must have started showing them between the ages of 7 and 16. If they do not show symptoms yet, they must be under 17 years old and have a sibling diagnosed with the late-juvenile form of MLD.
The patient must have normal thinking abilities, shown by an **IQ** score of 85 or higher on tests suitable for their age.
If the patient is younger than 7 years old, they must have normal movement skills for their age. If they are 7 years or older, they must be able to walk independently or have only mild movement difficulties.
The patient must agree to follow rules about using birth control if it applies to them, according to local guidelines for clinical studies.
The patient, or their parent or legal guardian if needed, must sign a form agreeing to participate in the study and follow its rules.

Who cannot join the trial?

10 criteria

Patients with any other serious medical condition that could interfere with the study.
Patients who have had a recent infection or illness that could affect the study results.
Patients who are currently taking medications that might interfere with the study treatment.
Patients who have a history of allergic reactions to similar treatments.
Patients who are unable to follow the study procedures or attend all required visits.
Patients who are pregnant or breastfeeding.
Patients who have participated in another clinical trial recently.
Patients with a history of substance abuse or addiction.
Patients with certain genetic conditions that might affect the study.
Patients who have had a recent surgery or are planning to have surgery during the study.

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Verified sites

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Ospedale San Raffaele S.r.l.
Milan, Italy

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Investigated drugs

OTL-200 is a medication being studied for its safety and effectiveness in treating patients with Late Juvenile Metachromatic Leukodystrophy (MLD). This trial involves a single infusion of OTL-200, and the main goal is to observe how the medication affects the cerebrospinal fluid (CSF) and the brain of the participants compared to their condition before receiving the treatment.

Atidarsagene Autotemcel

What is already known about the treatment

OTL-200 – OTL-200 is administered as a single infusion and is currently being studied in clinical trials for its safety and effectiveness in treating Late Juvenile Metachromatic Leukodystrophy (MLD). This medication is in the experimental stage and is not yet widely available in medical practice. It is designed to address the genetic mutations causing MLD, a rare inherited disorder. OTL-200 works by delivering a functional copy of the ARSA gene to the patient's cells, aiming to restore the production of the enzyme arylsulfatase A, which is deficient in individuals with MLD. It falls under the category of gene therapy, a cutting-edge approach in treating genetic disorders.

Investigated diseases

Metachromatic Leukodystrophy – Metachromatic Leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the ARSA gene, leading to a deficiency of the enzyme arylsulfatase A. This enzyme deficiency results in the accumulation of sulfatides, which are fatty substances that build up in the nervous system, causing damage to the protective covering of nerve cells known as myelin. As the disease progresses, individuals may experience a decline in motor skills, cognitive abilities, and sensory functions. Symptoms can vary depending on the age of onset, with early-onset forms typically showing more rapid progression. MLD is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.