Study of Eliglustat alone or with Imiglucerase in children and adolescents aged 2-17 years with Gaucher disease type 1 and type 3

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What is this study about?

This study focuses on Gaucher disease type 1 and type 3, a rare genetic disorder that affects various organs in the body. The study will test a medication called eliglustat, which is available in both capsule form and as a powder for oral suspension. Some participants will also receive imiglucerase, which is given through an intravenous infusion.

The purpose of this research is to evaluate how safe eliglustat is and how it moves through the body in young patients between 2 and 18 years of age. The study includes two groups of patients: one group will receive only eliglustat, while the other group will receive both eliglustat and imiglucerase. The treatment will continue for approximately one year.

During the study, doctors will monitor various aspects of the disease, including blood cell counts, liver and spleen size, lung function, and bone health. They will also track any side effects that may occur during treatment. The study will additionally look at how the treatment affects the quality of life of young patients.

1 Initial evaluation

Your eligibility for the study will be determined based on age (between 2 and 18 years) and confirmed diagnosis of Gaucher disease type 1 or type 3.

Medical tests will be performed to verify your current health status, including blood tests to check hemoglobin levels and platelet count.

2 Assignment to study group

Based on your current condition, you will be assigned to one of two groups:

Group 1: If you meet specific health criteria (including adequate blood counts and organ sizes), you will receive eliglustat alone

Group 2: If you have more severe symptoms, you will receive both eliglustat and imiglucerase

3 Treatment period – Group 1

If assigned to Group 1, you will receive eliglustat capsules for oral use

Regular monitoring of your blood counts, liver size, and spleen size will be conducted

The treatment will continue until the study end date in November 2025

4 Treatment period – Group 2

If assigned to Group 2, you will receive both eliglustat capsules for oral use and Cerezyme (imiglucerase) as an intravenous infusion every 2 weeks

The Cerezyme dose will be at least 60 units per kilogram of body weight

Your lung condition, bone health, and blood platelet levels will be regularly monitored

5 Ongoing assessments

Regular blood tests to measure the levels of eliglustat in your body

Monitoring of any side effects throughout the study

Completion of quality of life questionnaires using the Pediatric Quality of Life Inventory

Regular health assessments to track improvements in your condition

Who Can Join the Study?

Patient must be between 2 and 18 years old when joining the study
Must have confirmed Gaucher disease type 1 or type 3, proven by enzyme testing and genetic testing
For female patients who have started menstruation:
- Must have a negative pregnancy test before starting
- Must agree to use approved birth control methods or practice abstinence during the study
For patients receiving eliglustat alone (Cohort 1):
- Must have been on enzyme replacement therapy for at least 24 months
- Must meet specific health targets:
  - Required blood hemoglobin levels: at least 11.0 g/dL (ages 2-12), for ages 12-18: at least 11.0 g/dL for females and 12.0 g/dL for males
  - Blood platelet count of at least 100,000/mm3
  - Spleen size less than 10 times normal
  - Liver size less than 1.5 times normal
  - No lung or severe bone disease
For patients receiving eliglustat plus imiglucerase (Cohort 2):
- Must have been on enzyme therapy for at least 36 months
- Must have at least one of these conditions:
  - Lung disease visible on chest X-ray
  - Bone problems in the past 12 months (fractures, bone pain episodes, or weak bones)
  - Consistently low platelet count (below 80,000/mm3)

Who Cannot Join the Study?

Age less than 2 years or 18 years and older
Prior participation in other clinical trials within 30 days before starting this study
History of severe allergic reactions to similar medications
Presence of any other type of Gaucher disease except Type I and Type III
Severe kidney problems (as measured by kidney function tests)
Severe liver problems (as measured by liver function tests)
Pregnant or breastfeeding women
Use of medications that might interact with eliglustat (the study medication)
Unable to swallow medication in tablet form
Any medical condition that could interfere with the study procedures
Mental health conditions that could affect ability to participate in the study
Unable to follow study instructions or attend required visits

Where you can join this trial?

Verified and Recommended Sites

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Verified Sites

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Other Sites

Site Name	City	Country
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain
Ospedale Pediatrico Bambino Gesu’	Rome	Italy
Hospital Quironsalud Zaragoza	Zaragoza	Spain
Hospital Universitario De Cruces	Barakaldo	Spain
Hospital Femme Mere Enfant	Bron	France

Trial status

Country	Status	Recruitment Start
France	Not recruiting	05.02.2019
Italy	Not recruiting	05.02.2019
Spain	Not recruiting	05.02.2019

Trial locations

Investigated drugs:

Eliglustat is a medication used to treat Gaucher disease, a genetic condition where harmful substances build up in various organs. It works by reducing the production of fatty substances that accumulate in the body’s cells. This medication helps manage symptoms in patients with type 1 and type 3 Gaucher disease.

Imiglucerase is an enzyme replacement therapy that helps break down fatty substances that accumulate in cells due to Gaucher disease. It replaces the missing or non-working enzyme that normally prevents this buildup, helping to improve organ function and reduce symptoms of the disease.

Investigated diseases:

Gaucher Disease Type I – A genetic metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of fatty substances in cells throughout the body. This form is the most common and chronic type of Gaucher disease. The condition primarily affects organs such as the liver, spleen, and bone marrow. It causes enlargement of the liver and spleen, low blood platelet counts, and bone problems. Unlike other types, Type I does not affect the brain or nervous system.

Gaucher Disease Type III – A chronic form of Gaucher disease that affects both organs and the nervous system. Like Type I, it involves the accumulation of fatty substances in cells due to enzyme deficiency. This type shows a slower progression of neurological symptoms compared to Type II. The condition affects multiple body systems, including the liver, spleen, bone marrow, and brain. Patients may experience eye movement abnormalities, seizures, and coordination problems alongside the typical organ involvement.

Trial ID:

2024-510751-34-00

Protocol code:

EFC13738

Trial Phase:

Therapeutic confirmatory (Phase III)

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Study of Eliglustat alone or with Imiglucerase in children and adolescents aged 2-17 years with Gaucher disease type 1 and type 3

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?