RecruitingRare disease

Study on the Safety and Effects of Pegunigalsidase Alfa for Children and Adolescents with Fabry Disease

Verified siteInvestigationalNo placebo

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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 Fabry disease, a rare genetic condition that affects the body's ability to break down a specific type of fat, leading to a buildup in various organs. The study is investigating a treatment called PRX-102, which is a form of enzyme replacement therapy. This treatment is given as a concentrate for solution, which is then infused into the bloodstream through a vein. The main goal of the study is to learn about the safety and effects of PRX-102 in children and adolescents aged 2 to less than 18 years who have been diagnosed with Fabry disease.

Participants in the study will receive the treatment and be monitored over a period of time to assess how their bodies respond. The study will look at various factors, including how the treatment affects the symptoms of Fabry disease, such as pain and organ function. The study will also monitor for any side effects or reactions to the treatment. Participants will be grouped into different age categories to better understand how the treatment works in different age groups.

Throughout the study, regular check-ups will be conducted to track the participants' health and development. This includes physical exams, blood tests, and other assessments to ensure the treatment is working as intended and to identify any potential issues early on. The study aims to provide valuable information on the use of PRX-102 in young patients with Fabry disease, potentially leading to improved treatment options in the future.

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, the patient will be assigned to one of three age groups: 2 to 7 years, 8 to 12 years, or 13 to less than 18 years.
The patient must have a confirmed diagnosis of Fabry disease, which may include specific genetic tests or symptoms such as pain or skin changes.
Step 2
Treatment administration
The patient will receive the study drug, pegunigalsidase alfa, through an intravenous infusion. This means the medication is given directly into a vein.
The medication is provided as a concentrate that is mixed into a solution for infusion.
Step 3
Monitoring and assessments
Throughout the study, the patient will undergo regular monitoring to assess safety and effectiveness. This includes checking for any side effects, such as reactions at the infusion site or changes in vital signs.
Blood and urine samples will be collected to measure specific substances related to Fabry disease, such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Step 4
Evaluation of health and development
The patient's growth and development will be evaluated, including height, weight, and sexual development.
Additional tests may include heart function assessments and questionnaires about pain and quality of life.
Step 5
Completion of the study
The study is expected to continue until the end of 2029. During this time, the patient will continue to receive treatment and undergo regular assessments.
If the patient reaches the age of 18 during the study, certain assessments will be adjusted to reflect adult measures.

Who can join the trial?

5 criteria

The patient must be a boy or girl aged 2 to 7 years, 8 to 12 years, or 13 to less than 18 years.
The patient must have a confirmed diagnosis of **Fabry disease**. For boys, this means having very low levels of a specific enzyme called **alpha-galactosidase-A** or a known genetic mutation causing the disease. For girls, this means having genetic test results showing Fabry mutations or having a close male relative with the disease.
The patient must have at least one of the following signs of Fabry disease: **neuropathic pain** (pain from nerve damage), **cornea verticillata** (a specific eye condition), or **clustered angiokeratoma** (small, dark red spots on the skin).
The patient must have a history of **Fabry pain**, which can be either sudden, severe burning pain starting in the hands or feet and spreading to other parts of the body, or ongoing burning and tingling sensations.
The patient's health condition must require treatment with **enzyme replacement therapy** (ERT), as determined by the doctor in charge of the study.

Who cannot join the trial?

9 criteria

Patients who do not have a confirmed diagnosis of Fabry's disease cannot participate. Fabry's disease is a genetic condition that affects the body's ability to break down a certain type of fat.
Patients who are not within the specified age range for the study cannot participate. The study is for children in certain age groups.
Patients who are not able to follow the study procedures or take the study medication as required cannot participate.
Patients who have other medical conditions that might interfere with the study or make it unsafe for them to participate cannot join the study.
Patients who are taking certain medications that could affect the study results cannot participate.
Patients who have had a recent major surgery or are planning to have surgery during the study period cannot participate.
Patients who are pregnant or breastfeeding cannot participate in the study.
Patients who have a history of allergic reactions to similar medications cannot participate.
Patients who are part of another clinical trial cannot participate in this study.

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Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

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Centre Hospitalier Universitaire De Bordeaux
Bordeaux, France
Verified
Centre Hospitalier Universitaire De Montpellier
Montpellier, France
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Helse Bergen HF
Bergen, Norway

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Investigated drugs

Pegunigalsidase Alfa is a medication being studied for its safety and effectiveness in treating children with Fabry disease. This medication is designed to replace a missing enzyme in patients with Fabry disease, helping to reduce the buildup of certain substances in the body that can cause damage to organs and tissues. The trial aims to understand how well this medication works in children and how it is processed by their bodies.

Pegunigalsidase Alfa

What is already known about the treatment

Pegunigalsidase Alfa – This medication is administered through intravenous infusion and is currently being studied in clinical trials for its safety and effectiveness in treating Fabry's disease, particularly in children aged 2 to less than 18 years. It is an enzyme replacement therapy designed to break down a specific fatty substance that accumulates in the cells of individuals with Fabry's disease. Pegunigalsidase Alfa works by replacing the deficient enzyme, alpha-galactosidase A, thereby reducing the buildup of this fatty substance. It is classified as an enzyme replacement therapy and is under investigation to determine its pharmacodynamics and pharmacokinetics in pediatric patients.

Investigated diseases

Fabry Disease – Fabry disease is a rare genetic disorder caused by the buildup of a specific type of fat, called globotriaosylceramide, in the body's cells. This accumulation occurs due to a deficiency of the enzyme alpha-galactosidase A, which is responsible for breaking down this fat. The disease primarily affects the kidneys, heart, and nervous system, leading to symptoms such as pain, kidney dysfunction, heart problems, and skin rashes. Over time, the progressive accumulation of these fats can lead to more severe complications in the affected organs. Symptoms often begin in childhood or adolescence and can vary widely in severity among individuals. The disease is inherited in an X-linked manner, meaning it predominantly affects males, although females can also experience symptoms.