Not yet recruitingRare disease

A Study of Migalastat Safety and Effects in Children Aged 2 to 12 Years with Fabry Disease and Suitable Gene Changes

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 study involves children between 2 and 12 years old who have Fabry disease. Fabry disease is a rare inherited condition where the body cannot properly break down a certain type of fat, which then builds up in various organs and can cause health problems. The treatment being tested is migalastat hydrochloride, which is also known by its code name AT1001. This medication comes as a dispersible tablet that can be dissolved in liquid before taking it by mouth. The study will only include children who have specific changes in their genes that make them suitable for treatment with this medication.

The purpose of this study is to understand how the body of children processes migalastat and to confirm the correct dose for different age groups, as well as to evaluate the safety of this treatment in children with Fabry disease. During the study, children will receive migalastat treatment for 12 months. The highest daily dose will be 140 milligrams, and the treatment will be given by mouth. Throughout the study, doctors will collect blood samples to measure the levels of medication in the body and will monitor various aspects of health.

During the 12 months of treatment, doctors will regularly check for any side effects or unwanted reactions to the medication. They will also monitor changes in laboratory test results, vital signs such as blood pressure and heart rate, physical examination findings, body weight and height, heart function using tests like electrocardiograms and echocardiograms, and development in older children. The study will track how the medication affects various complications of Fabry disease that the children may have, such as problems with the heart, kidneys, nervous system, or other organs.

The research process

The trial runs in 7 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial treatment preparation
Before starting the treatment, your child must not have received enzyme replacement therapy (medications called Replagal or Fabrazyme) for at least 14 days.
The medical team will confirm that your child has a specific gene variant that can respond to migalastat treatment.
Step 2
Baseline assessment
Your child will undergo a complete baseline evaluation before starting the medication.
This will include blood tests to measure medication levels in the blood and check overall health.
Your child will have vital signs measured, including blood pressure, heart rate, and temperature.
A physical examination will be performed to assess overall health.
Your child's weight and height will be measured and recorded.
An electrocardiogram will be performed to check the electrical activity of the heart.
An echocardiogram will be performed to examine the structure and function of the heart using ultrasound.
For girls aged 8 years and older and boys aged 9 years and older, a Tanner stage assessment will be performed to evaluate physical development.
Step 3
Treatment with migalastat
Your child will receive migalastat hydrochloride in the form of a dispersible tablet that can be dissolved in liquid.
The medication is taken by mouth.
The specific dose will be determined based on your child's age and weight to achieve the appropriate medication levels in the blood.
The treatment will continue for 12 months.
Step 4
Regular monitoring visits
Throughout the 12-month treatment period, your child will attend regular monitoring visits.
At these visits, blood samples will be taken to measure pharmacokinetics, which means how the medication moves through and is processed by the body.
The medical team will monitor for any side effects or unwanted reactions to the medication.
Blood tests will be repeated regularly to check for changes in laboratory values.
Vital signs will be measured at each visit to track any changes over time.
Physical examinations will be performed regularly to assess your child's overall health.
Weight and height will be measured at each visit to monitor growth.
Electrocardiograms will be performed periodically to monitor heart function.
For girls aged 8 years and older and boys aged 9 years and older, Tanner stage assessments will be repeated to track physical development.
Step 5
Safety monitoring throughout treatment
The medical team will continuously monitor for any treatment-emergent adverse events, which are any health problems that occur during treatment.
Any serious adverse events, which are significant health problems requiring immediate attention, will be carefully tracked.
If your child experiences side effects that make it necessary to stop the medication, this will be documented.
Step 6
Final assessment at month 12
At the end of the 12-month treatment period, your child will undergo a comprehensive final assessment.
This will include all the same tests performed at baseline: blood tests, vital signs, physical examination, weight and height measurements, electrocardiogram, and echocardiogram.
For girls aged 8 years and older and boys aged 9 years and older, a final Tanner stage assessment will be performed.
The medical team will compare all results from the final assessment with the baseline measurements to evaluate changes over the 12-month treatment period.
Step 7
Contraception requirements
If your child is of reproductive age, a medically accepted method of contraception must be used throughout the entire study period.
Contraception must continue for up to 30 days after the last dose of migalastat.

Who can join the trial?

7 criteria

The child must be diagnosed with Fabry disease, which is a rare inherited condition that affects how the body breaks down certain fats
The child must be between 2 and 12 years old at the time of joining the study. If the child is 11 years old, their birthday must be more than 30 days after joining
A parent or legal guardian must be willing to sign a consent form allowing the child to take part in the study
The child must have a specific change in their GLA gene, which is the gene that causes Fabry disease. This gene change must be one that can respond to the study medicine called migalastat. This information must be confirmed before a certain study visit
The child must not have received enzyme replacement therapy, which is a type of treatment given through an infusion into a vein, for at least 14 days before starting the study
The child must have at least one complication or symptom caused by Fabry disease, such as eye changes, pain in hands and feet, stomach problems, reduced sweating, heart changes, kidney problems, high levels of certain substances in blood or urine, or hearing problems
If the child is old enough to have children, they must agree to use birth control during the study and for 30 days after taking the last dose of the study medicine

Who cannot join the trial?

5 criteria

The study does not list specific exclusion criteria in the provided information, which means the detailed reasons why someone cannot participate are not available in this document
Generally, clinical trials have exclusion criteria to ensure patient safety and that the study results are reliable
If you are interested in this study for Fabry disease (a rare genetic condition that affects how the body breaks down certain fats), you would need to contact the study team to learn about all the specific requirements
The study is testing a medicine called migalastat in children between 2 and 12 years old who have a specific type of gene change that can be helped by this treatment
Not all patients with Fabry disease may be eligible, as the study only includes those with certain gene variants (specific changes in the genetic code) that respond to migalastat

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Verified sites

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

Fundacion Para La Investigacion Biomedica Del Hospital Universitario La Paz
Responsive
Madrid, Spain
Katholieke Universiteit te Leuven
Responsive
Leuven, Belgium
Universitaetsklinikum Muenster AöR
Verified
Munster, Germany

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Investigated drugs

Migalastat is a medicine used to treat Fabry disease in patients who have specific gene changes that respond to this treatment. It works by helping to stabilize and improve the activity of an enzyme called alpha-galactosidase A, which is not working properly in people with Fabry disease. This medicine is taken by mouth and helps the body's own enzyme work better, rather than replacing it with an enzyme from an outside source.

What is already known about the treatment

Migalastat – Migalastat is an oral medication taken by mouth in capsule form, used to treat Fabry disease in patients who have specific genetic variants that respond to this treatment. It works as a pharmacological chaperone, which means it helps stabilize and improve the function of the defective alpha-galactosidase A enzyme at the molecular level, allowing it to be properly transported within cells and break down harmful fat substances that accumulate in Fabry disease. This medication is approved and used in clinical practice for eligible Fabry disease patients, and ongoing studies are evaluating its safety and effectiveness in younger children aged 2 to 12 years. Migalastat belongs to a class of drugs called enzyme stabilizers or pharmacological chaperones, offering an alternative treatment approach for patients with amenable genetic mutations.

Investigated diseases

Fabry Disease – Fabry disease is a rare genetic disorder caused by mutations in the gene that produces an enzyme called alpha-galactosidase A. When this enzyme is missing or not working properly, certain fatty substances build up in the cells of the body over time. This accumulation affects various organs and systems, including the kidneys, heart, skin, and nervous system. The disease is inherited in an X-linked pattern, meaning it is passed from parents to children through the X chromosome. Symptoms often begin in childhood or adolescence and may include pain in the hands and feet, skin rashes, decreased ability to sweat, and gastrointestinal problems. As the disease progresses, the buildup of fatty substances can lead to more serious complications affecting major organs.