Not recruitingRare disease

Study on Gene Therapy with Atidarsagene Autotemcel for Patients with 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 affects the nervous system, leading to a decline in motor skills and other functions. The treatment being tested in this study is a type of gene therapy using a product called Libmeldy, which contains a special type of cells known as atidarsagene autotemcel. These cells are designed to help correct the genetic problem that causes MLD.

The purpose of the study is to evaluate the safety and effectiveness of this gene therapy in people with MLD. Participants will receive the treatment through an intravenous injection, which means the cells are delivered directly into the bloodstream. The study will monitor participants over time to see if the treatment helps slow down the progression of the disease and improves motor functions. Researchers will also check for any side effects or safety concerns related to the treatment.

Throughout the study, participants will undergo various assessments to measure changes in their motor skills and other health indicators. These assessments will help determine if the gene therapy is working as intended. The study aims to provide valuable information on whether this new treatment can offer a significant benefit to individuals with MLD.

The research process

The trial runs in 8 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 based on specific criteria. These include being a pre-symptomatic late infantile patient or a pre- or early-symptomatic early juvenile patient. Informed consent must be signed by a parent, guardian, or the patient.
Step 2
Preparation for treatment
Preparation involves a conditioning regimen to ensure the body is ready for the gene therapy. This step is crucial for the success of the treatment and involves monitoring for any adverse effects.
Step 3
Gene therapy administration
The treatment involves the infusion of Libmeldy, which contains atidarsagene autotemcel. This is administered through an intravenous injection. The infusion is a dispersion for infusion, meaning it is delivered directly into the bloodstream.
Step 4
Short-term monitoring
After the infusion, short-term safety and tolerability are assessed. This includes monitoring for any immediate reactions to the lentiviral-transduced cell infusion.
Step 5
Long-term monitoring
Long-term safety is evaluated to ensure there are no replication-competent lentivirus or abnormal cell growth. Monitoring continues to assess the effectiveness of the treatment in reducing motor impairment and increasing enzyme activity.
Step 6
Evaluation of treatment efficacy
Efficacy is measured by improvements in motor function and enzyme activity. The Gross Motor Function Measure (GMFM) is used to compare treated patients with untreated ones. An improvement of at least 10% in GMFM scores is a key indicator of success.
Step 7
Additional assessments
Additional assessments include nerve conduction velocity, brain MRI scores, and intelligence quotient (IQ) values. These are evaluated at various intervals up to 36 months after treatment.
Step 8
End of trial
The trial is estimated to conclude by June 30, 2025. Final assessments will determine the overall safety and efficacy of the gene therapy for Metachromatic Leukodystrophy.

Who can join the trial?

6 criteria

The patient must have a condition called Metachromatic Leukodystrophy (MLD).
The patient should be a pre-symptomatic late infantile patient. This means the patient is in the early stage of the condition and has not yet shown symptoms.
The patient can also be a pre- or early-symptomatic early juvenile patient. This means the patient is either in the early stage or just starting to show symptoms.
The patient or their parent/guardian must provide informed consent. This means they agree to participate in the study after understanding all the details and risks involved.
The study is open to both male and female patients.
The study includes patients who are considered a vulnerable population. This means they might need extra protection or care during the study.

Who cannot join the trial?

10 criteria

Patients who have any other serious health conditions that could interfere with the study.
Patients who are unable to follow the study procedures or attend the required visits.
Patients who have had a previous treatment that might affect the study results.
Patients who are currently participating in another clinical trial.
Patients who have allergies to any of the substances used in the study.
Patients who are pregnant or breastfeeding.
Patients who have a history of drug or alcohol abuse.
Patients who have a mental health condition that might affect their ability to participate.
Patients who have an infection that could affect the study results.
Patients who have a blood disorder that could interfere with the study.

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Verified sites

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

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Investigated drugs

Hematopoietic Stem Cell Gene Therapy is a treatment being studied for Metachromatic Leukodystrophy (MLD). This therapy involves modifying the patient's own stem cells to correct the genetic defect causing the disease. The modified cells are then infused back into the patient. The goal is to improve motor function and slow down the progression of the disease by increasing the activity of a specific enzyme that is deficient in MLD patients.

Atidarsagene Autotemcel

What is already known about the treatment

Gene Therapy for Metachromatic Leukodystrophy – This treatment involves the administration of genetically modified hematopoietic stem cells, which are infused into the patient. Currently, it is in the clinical trial phase, specifically a Phase I/II trial, to assess its safety and effectiveness. The main therapeutic indication is for Metachromatic Leukodystrophy (MLD), a rare genetic disorder. The therapy works by introducing a functional copy of the ARSA gene into the patient's stem cells, aiming to restore the enzyme activity that is deficient in MLD. This approach is classified under gene therapy, a branch of genetic medicine focused on treating diseases by modifying genes.

Investigated diseases

Metachromatic Leukodystrophy (MLD) – Metachromatic Leukodystrophy is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme arylsulfatase A, leading to the accumulation of sulfatides, which are toxic to the nervous system. This accumulation results in the progressive destruction of the myelin sheath, the protective covering of nerve cells. As the disease progresses, individuals may experience a decline in motor skills, muscle weakness, and difficulties with coordination and balance. Cognitive functions can also be affected, leading to changes in behavior and mental abilities. The progression of symptoms varies depending on the age of onset, with infantile, juvenile, and adult forms of the disease.