RecruitingPHASE2, PHASE3INTERVENTIONAL

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease

This study is looking into a new medicine called PRX-102 for children and teenagers (aged 2 to 17) who have Fabry disease. Fabry disease is a rare condition that can affect many parts of the body. PRX-102 is designed to act like a natural enzyme that's missing or not working properly in people with Fabry disease. Researchers want to find out the safest and most effective dose for young people. They will also check if PRX-102 helps improve common symptoms like pain, and how it affects important organs such as the kidneys and heart. About 20 to 22 young people will take part, receiving the medicine through a drip every two weeks.

At a glance

Status

Recruiting

Phase

PHASE2, PHASE3

Sponsor

Chiesi Farmaceutici S.p.A.

Enrolment target

Start

29 Jul 2025

Estimated completion

01 Apr 2031

Fabry Disease

What is this study about?

This study is designed to learn more about a new medicine called PRX-102 for children and teenagers who have Fabry disease. Fabry disease is a rare genetic condition where the body can't break down a certain type of fatty substance. This build-up can cause problems in many parts of the body, including the kidneys, heart, skin, and nervous system, leading to pain and other symptoms.

PRX-102 is a type of 'enzyme replacement therapy'. This means it's designed to replace the natural enzyme that's missing or not working correctly in people with Fabry disease. The medicine is given directly into a vein (like a drip) every two weeks. The main goals of this study are to work out the safest and most effective amount (dose) of PRX-102 for young people, and to see if it helps with common Fabry symptoms, such as pain, stomach problems, and how well the kidneys and heart are working.

Around 20 to 22 boys and girls between 2 and 17 years old with Fabry disease will be invited to take part. They will be split into different age groups for the study. The study has three main parts: first, finding the right dose for children; second, confirming how safe and effective that dose is; and finally, an optional long-term part where participants can continue receiving the treatment until it's widely available or the study ends.

Key takeaways

This study is testing a new medicine, PRX-102, for young people with Fabry disease.
It aims to find the safest and most helpful dose for children and teenagers.
PRX-102 is given every two weeks through a drip into a vein.
Participants will have regular check-ups and tests during the study.
The study assesses effects on symptoms like pain, and organ function (heart, kidneys).

Who may be eligible?

To join this study, children and teenagers usually need to be between 2 and 17 years old and have a confirmed diagnosis of Fabry disease. They should also be experiencing some typical signs of Fabry disease, such as nerve pain, specific eye changes, or red spots on the skin (angiokeratoma). Importantly, their doctor must believe that they would benefit from this type of enzyme replacement treatment.

There are also some reasons why someone might not be able to join. For example, if they have certain kidney problems, or have had a serious allergic reaction to similar treatments in the past. If they are taking another experimental medicine, or have certain severe heart conditions, or have had COVID-19 recently, they might also not be able to participate. The study will also check for other health issues that could make taking part unsafe.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is your child between 2 and 17 years old?
Does your child have a confirmed diagnosis of Fabry disease?
Does your child experience nerve pain, specific eye changes, or skin spots due to Fabry disease?
Has your child ever had a severe allergic reaction to similar medicines?
Does your child have certain severe heart or kidney conditions?
Is your child currently taking part in another experimental medical study?

Answer every question to see your result.

What does participation involve?

If your child takes part in this study, they will receive the study medicine, PRX-102, through a drip into a vein. This will happen at a clinic visit at least every two weeks. These visits will last for a few hours and will also include various tests to check their health and how the medicine is working.

These tests may include a physical examination, checking their heart with an ECG and ultrasound, and completing questionnaires about their symptoms, pain levels, and quality of life. Blood and urine samples will also be collected. The total duration of participation will vary. The initial stages involve researchers finding and confirming the right dose. An optional longer-term stage means some participants could continue on the treatment until it's available more widely or the study finishes.

Potential risks and benefits

Taking part in any medical study has potential benefits and risks. A possible benefit of this study is that PRX-102 might help improve your child's Fabry disease symptoms or slow down its progression. However, we don't know for sure if it will be effective or safe in the long term, as it's still being investigated. Potential risks include side effects from the medicine, or discomfort from the regular blood tests and infusions. All possible side effects will be carefully monitored. You have the right to withdraw your child from the study at any time, for any reason, without it affecting their future medical care.

Locations (12)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Phoenix Children's
Verified postcode
Phoenix, United States· Recruiting
Emory Genetics Clinical Trials Center
Verified postcode
Atlanta, United States· Recruiting
University of Iowa
Verified postcode
Iowa City, United States· Recruiting
Cincinnati Children's Hospital Medical Center
Verified postcode
Cincinnati, United States· Not yet recruiting
University of Utah
Verified postcode
Salt Lake City, United States· Recruiting
Lysosomal and Rare Disorders Research and Treatment Center Inc
Verified postcode
Fairfax, United States· Not yet recruiting
UK für Kinder- und Jugendheilkunde der PMU Salzburg
Verified postcode
Salzburg, Austria· Recruiting
Centre Hospitalier Universitaire (CHU) de Bordeaux - Groupe Hospitalier Pellegrin
Verified postcode
Bordeaux, France· Recruiting
Hopital Arnaud de Villeneuve
Verified postcode
Montpellier, France· Recruiting
Haukeland Universitetssjukehus
Verified postcode
Bergen, Norway· Recruiting
Hospital Clinico Universitario De Santiago De Compostela
Verified postcode
Santiago de Compostela, Spain· Recruiting
Great Ormond Street Hospital for Children NHS Foundation Trust
Verified postcode
London, United Kingdom· Not yet recruiting

Common questions

What is Fabry disease?

Fabry disease is a rare genetic condition where the body cannot properly break down a certain fat, leading to it building up in various organs like the kidneys, heart, and nerves.

How is PRX-102 given?

PRX-102 is given through a drip (intravenous infusion) into a vein, typically every two weeks at a clinic.

Who can take part in this study?

Children and teenagers aged 2 to 17 with a confirmed diagnosis of Fabry disease may be eligible, provided they meet other health criteria specified by the study.

How long will the study last?

The study has several stages, including dose-finding and confirmation. There's also an optional long-term extension, so the total time individual participants are involved can vary.

Will my child get the actual medicine or a dummy treatment?

In this specific study, all participants will receive the study medicine, PRX-102. There isn't a comparison group receiving a placebo (dummy treatment).

How to find out more

Chiesi Clinical Trial

clinicaltrials_info@chiesi.com +3905212791 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.