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Study on Gene Therapy with Autologous Stem Cells and Drug Combination for Children with Mucopolysaccharidosis Type I Hurler Variant

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What is this study about?

This clinical trial is focused on studying a rare genetic disorder called Mucopolysaccharidosis Type I, Hurler variant (MPS I Hurler). This condition affects the body’s ability to break down certain sugars, leading to various health issues. The study is testing a new treatment called OTL-203, which involves using the patient’s own blood stem cells that have been genetically modified. These cells are altered to include a gene that helps produce an enzyme called alpha-L-iduronidase, which is missing or not working properly in people with MPS I Hurler.

The purpose of the study is to evaluate the safety and tolerability of this gene therapy in children with MPS I Hurler. Participants will receive a conditioning treatment to prepare their body, followed by an infusion of the modified stem cells. The study will monitor the participants over time to see how well they tolerate the treatment and to check for any side effects. The study will also look at how well the treatment works in increasing the levels of the missing enzyme in the blood.

In addition to the main treatment, the study involves other medications such as Lenograstim, Plerixafor, Busulfan, Fludarabine, and Rituximab, which are used to support the treatment process. Some participants may receive a placebo instead of the active treatment to help compare the results. The study is expected to continue until 2027, with regular follow-ups to ensure the safety and effectiveness of the treatment.

1 initial assessment

The trial begins with an initial assessment to confirm eligibility. This includes a review of medical history and tests to ensure adequate heart, kidney, liver, and lung function.

Eligibility criteria include being between 28 days and 11 years old, having a confirmed diagnosis of Mucopolysaccharidosis Type I Hurler, and meeting specific health and donor availability requirements.

2 pre-treatment preparation

Before starting the main treatment, a conditioning regimen is administered to prepare the body. This involves medications to suppress the immune system and make space in the bone marrow for new cells.

Medications used include busulfan and fludarabine, both given intravenously. The exact dosage and schedule are determined by the medical team.

3 stem cell collection

Stem cells are collected from the patient. These are special cells that can develop into different types of blood cells.

The process involves using lenograstim and plerixafor to mobilize stem cells into the bloodstream, where they can be collected.

4 genetic modification

The collected stem cells are genetically modified in a laboratory. This involves using a lentiviral vector to insert a healthy version of the IDUA gene into the cells.

The modified cells are then prepared for infusion back into the patient.

5 infusion of modified cells

The genetically modified stem cells are infused back into the patient through an intravenous line. This is the main part of the treatment.

The goal is for these cells to engraft in the bone marrow and produce healthy blood cells.

6 post-treatment monitoring

After the infusion, close monitoring is required to assess the safety and effectiveness of the treatment.

This includes regular blood tests to check for engraftment and to measure IDUA enzyme activity levels. Monitoring for any side effects or complications is also conducted.

7 long-term follow-up

Long-term follow-up is necessary to ensure the continued safety and effectiveness of the treatment.

This involves periodic assessments over several years to monitor for any late-onset side effects or complications.

Who Can Join the Study?

  • The child’s parent or legal guardian must provide written permission for the child to join the study.
  • Both boys and girls can participate.
  • The child must be between 28 days old and 11 years old.
  • The child must have a confirmed diagnosis of Mucopolysaccharidosis type I Hurler (MPS IH), which is a specific genetic condition.
  • The child must have a Lansky Index score greater than 80%. The Lansky Index is a way to measure how well a child can perform daily activities.
  • The child must need a Hematopoietic Stem Cell Transplant (HSCT), which is a procedure to replace damaged or diseased bone marrow with healthy cells.
  • The child must not have a suitable sibling donor or a specific type of cord blood donor available after a one-month search. This requirement does not apply if the child’s home country does not offer unrelated donor cord blood transplantation.
  • The child must have healthy heart, kidney, liver, and lung functions.

Who Cannot Join the Study?

  • Patients who have a different condition than Mucopolysaccharidosis type I Hurler cannot participate. This is a specific genetic disorder.
  • Patients who are not within the specified age range for the study cannot participate. The study is for children.
  • Patients who have not undergone a specific type of treatment called myeloablative and lymphoablative conditioning cannot participate. This treatment involves preparing the body for a transplant by reducing the immune system’s activity.
  • Patients who are not able to receive the specific type of cell treatment being tested cannot participate. This involves using the patient’s own cells that have been modified.
  • Patients who are not able to follow the study procedures or attend all required visits cannot participate.

Where you can join this trial?

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Other Sites

Site Name City Country Status
Ospedale San Raffaele S.r.l. Milan Italy

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

Trial status

Country Status Recruitment Start
Italy Italy
Not recruiting
14.05.2018

Trial locations

Investigated drugs:

Autologous Hematopoietic Stem and Progenitor Cells are cells taken from the patient’s own body. In this trial, these cells are genetically modified to include a specific gene, the IDUA gene, which is important for treating Mucopolysaccharidosis Type I, Hurler variant. The goal is to help the body produce the enzyme it lacks due to the condition.

IDUA Lentiviral Vector is a tool used to deliver the IDUA gene into the patient’s stem cells. This vector helps insert the gene into the cells so they can start producing the necessary enzyme to treat the disease.

Myeloablative and Lymphoablative Conditioning Regimen is a treatment given before the modified cells are introduced back into the patient’s body. This regimen helps prepare the body to accept the new cells by reducing the existing bone marrow and immune cells, making space for the new, modified cells to grow and function.

Mucopolysaccharidosis type I Hurler – This is a genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase, which is necessary for breaking down certain complex carbohydrates. As a result, these carbohydrates accumulate in various tissues and organs, leading to progressive damage. Symptoms often appear in early childhood and may include developmental delay, distinctive facial features, and organ enlargement. Over time, individuals may experience joint stiffness, heart problems, and respiratory issues. The disease progresses with increasing severity, affecting physical abilities and quality of life.

Trial ID:
2024-514870-29-00
Protocol code:
TigetT10_MPSIH
Trial Phase:
Phase I and Phase II (Integrated) – First administration to humans

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