Ongoing Clinical Trials for Fabry Disease
There are currently 7 ongoing clinical trials for Fabry Disease (also known as Fabry’s Disease), a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A. These studies are testing new treatments including gene therapies, enzyme replacement therapies, and substrate reduction therapies across multiple countries in Europe.
Clinical trial locations
- Austria
- Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy
- Study on the Long-Term Safety and Effectiveness of Pegunigalsidase Alfa for Adults with Fabry Disease
- Study on the Safety and Effects of Pegunigalsidase Alfa for Children and Adolescents with Fabry Disease
- Study on Long-Term Safety of Oral Lucerastat for Adults with Fabry Disease
- Belgium
- Czechia
- Denmark
- France
- Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy
- Study on the Safety of Migalastat for Patients with Fabry Disease and Severe Kidney Problems on Dialysis
- Study on the Safety and Effects of Pegunigalsidase Alfa for Children and Adolescents with Fabry Disease
- Study on Long-Term Safety of Oral Lucerastat for Adults with Fabry Disease
- Germany
- Long-Term Safety Study of ST-920 Gene Therapy for Patients with Fabry Disease
- Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy
- Study on Long-Term Safety of Oral Lucerastat for Adults with Fabry Disease
- Study on the Safety and Tolerability of ST-920 Gene Therapy for Patients with Fabry Disease
- Greece
- Italy
- Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy
- Study on the Long-Term Safety and Effectiveness of Pegunigalsidase Alfa for Adults with Fabry Disease
- Study on the Safety and Tolerability of ST-920 Gene Therapy for Patients with Fabry Disease
- Netherlands
- Norway
- Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy
- Study on the Long-Term Safety and Effectiveness of Pegunigalsidase Alfa for Adults with Fabry Disease
- Study on the Safety and Effects of Pegunigalsidase Alfa for Children and Adolescents with Fabry Disease
- Study on Long-Term Safety of Oral Lucerastat for Adults with Fabry Disease
- Poland
- Portugal
- Spain
- Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy
- Study on the Safety of Migalastat for Patients with Fabry Disease and Severe Kidney Problems on Dialysis
- Study on the Safety and Effects of Pegunigalsidase Alfa for Children and Adolescents with Fabry Disease
- Study on Long-Term Safety of Oral Lucerastat for Adults with Fabry Disease
Study on the Safety and Effects of Pegunigalsidase Alfa for Children and Adolescents with Fabry Disease
This study is investigating pegunigalsidase alfa, an enzyme replacement therapy, in children and adolescents aged 2 to less than 18 years. The medication is given as an intravenous infusion.
Main inclusion criteria: Children must have a confirmed diagnosis with genetic testing or specific symptoms such as pain, eye changes, or skin changes. They must also have a history of nerve-related pain and require enzyme replacement therapy according to their doctor.
Main exclusion criteria: Children without a confirmed diagnosis, those outside the specified age range, those unable to follow study procedures, those with interfering medical conditions, those taking certain medications, those who recently had or are planning surgery, pregnant or breastfeeding participants, those with allergies to similar medications, and those participating in other trials cannot join.
Focus: The study monitors how the treatment affects symptoms including pain and organ function. Regular check-ups include physical exams, blood tests, and assessments of growth and development. The study tracks specific substances in blood and urine related to the condition and evaluates quality of life through questionnaires.
Investigational drug: Pegunigalsidase alfa is designed to replace the missing enzyme, helping to reduce the buildup of fatty substances in the body that can damage organs and tissues.
Study on the Safety of Migalastat for Patients with Fabry Disease and Severe Kidney Problems on Dialysis
This study evaluates the safety of migalastat in patients with severe kidney impairment, including those with end-stage kidney disease undergoing hemodialysis. Migalastat is taken as hard capsules by mouth.
Main inclusion criteria: Patients must be 18 years or older with a specific genetic variant suitable for treatment. They must have severely reduced kidney function or be on a stable hemodialysis schedule for at least 2 months. Those on dialysis must complete at least 4 sessions during each 2-week treatment period and agree to use birth control if able to have children.
Main exclusion criteria: Patients without the specific genetic variants, those without severe kidney problems or not on hemodialysis, those outside the age range, those unwilling to follow procedures, those with interfering conditions, pregnant or breastfeeding individuals, those in other trials, and those with allergies to the medication cannot participate.
Focus: The study determines appropriate dosing by monitoring medication levels in blood and urine. Regular assessments include laboratory tests, vital signs, physical examinations, and kidney function measurements.
Investigational drug: Migalastat HCl works by helping the body break down accumulated substances more effectively. It stabilizes enzymes that are deficient in people with the condition, helping them function properly.
Long-Term Safety Study of ST-920 Gene Therapy for Patients with Fabry Disease
This long-term follow-up study monitors patients who previously received ST-920 gene therapy in an earlier trial. The study runs until 2040 to assess long-term safety.
Main inclusion criteria: Only male participants who received ST-920 therapy in the parent trial and consented to this follow-up study can join. Participants must be adults aged 18 and older.
Main exclusion criteria: Females and individuals outside the specified age range cannot participate.
Focus: The study monitors for any long-term side effects or adverse events that may occur years after treatment. Regular check-ups ensure participant well-being and gather data on the treatment’s lasting effects.
Investigational drug: ST-920 uses a modified virus to deliver a healthy gene copy that enables the body to produce the missing enzyme alpha-galactosidase A, potentially providing a long-term solution.
Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy
This 18-month study compares venglustat tablets with standard treatments including agalsidase alfa, agalsidase beta, and migalastat in patients with an enlarged heart muscle.
Main inclusion criteria: Patients must be between 18 and 65 years old with confirmed diagnosis and previous symptoms. They must have left ventricular hypertrophy and can be either receiving standard treatment or not. Female participants must not be pregnant or breastfeeding and must use contraception. Males must not donate sperm during the study.
Main exclusion criteria: Those outside the age range, with severe heart conditions unrelated to the disease, pregnant or breastfeeding women, those in other trials, those with severe kidney dysfunction, those with allergies to similar medications, those unable to follow the protocol, those on interfering medications, those with uncontrolled blood pressure, those unable to consent, those with recent substance abuse, those with conditions making participation unsafe, those who had major surgery in the last 3 months, and those with severe liver problems cannot participate.
Focus: The study uses cardiac MRI scans to measure heart muscle size, performs heart function tests, monitors kidney function, and assesses symptoms through questionnaires about tiredness and mood. The main focus is changes in heart muscle thickness.
Investigational drug: Venglustat is an oral medication that works by reducing the buildup of harmful substances in the body’s cells, particularly in the heart. It represents a different approach from traditional enzyme replacement therapies.
Study on Long-Term Safety of Oral Lucerastat for Adults with Fabry Disease
This extension study observes the long-term safety and tolerability of lucerastat taken orally as hard capsules for up to 72 weeks, with a maximum dose of 2000 milligrams per day.
Main inclusion criteria: Patients must have completed a previous 6-month treatment period in study 069A301 and signed informed consent before study procedures. Both males and females who are adults or older adults can participate.
Main exclusion criteria: The study specifically requires participants to have completed the previous study mentioned in the inclusion criteria.
Focus: The study monitors participants for any side effects or adverse reactions to the medication over the extended treatment period through regular assessments.
Investigational drug: Lucerastat is designed to help manage symptoms by potentially reducing the accumulation of fat in the body. It works by inhibiting the synthesis of certain lipids that accumulate in cells and is classified as a substrate reduction therapy.
Study on the Long-Term Safety and Effectiveness of Pegunigalsidase Alfa for Adults with Fabry Disease
This study evaluates pegunigalsidase alfa given as an intravenous infusion every four weeks at 2 mg per kg of body weight until December 2025.
Main inclusion criteria: Patients must have completed the previous study PB-102-F50 and signed informed consent. Those who can have children must agree to use reliable birth control for 2 weeks after treatment ends, including hormonal methods combined with barrier methods, intrauterine devices, vasectomized partners, or abstinence.
Main exclusion criteria: Those under 18, those without the condition, those unable to follow procedures or attend visits, those with interfering medical conditions, pregnant or breastfeeding individuals, and those in other trials cannot participate.
Focus: The study monitors kidney function through estimated glomerular filtration rate, heart health through left ventricular mass measurements, blood substance levels, protein in urine, pain medication use, exercise tolerance through stress tests, pain levels through questionnaires, disease severity scores, and quality of life assessments. Safety monitoring includes laboratory tests, physical examinations, injection site assessments, electrocardiography, and brain MRI.
Investigational drug: Pegunigalsidase alpha replaces the deficient enzyme, helping to break down certain fats that accumulate due to the disease, potentially alleviating symptoms and preventing progression.
Study on the Safety and Tolerability of ST-920 Gene Therapy for Patients with Fabry Disease
This study tests ST-920 gene therapy given as a single dose through intravenous injection, expected to conclude by March 2025.
Main inclusion criteria: Patients must be 18 years or older with a confirmed diagnosis and at least one of the following symptoms: cornea verticillata, acroparesthesia, anhidrosis, or angiokeratoma. They must sign informed consent and be fully vaccinated for COVID-19 at least one month before starting. Males must agree to use contraception and not donate sperm, while females must have a negative pregnancy test, use contraception, and not donate eggs. Specific enzyme activity levels and genetic testing results are required depending on the patient group.
Main exclusion criteria: Females, those under 18, and vulnerable populations cannot participate.
Focus: The study monitors treatment-emergent adverse events through routine blood tests, liver function tests, heart monitoring through ECG and echocardiogram, alpha fetoprotein levels, and liver imaging. Over one year, the study evaluates changes in alpha-Gal A activity, blood substance levels, kidney function, heart function through cardiac imaging, and clearance of the therapy vector in bodily fluids.
Investigational drug: ST-920 uses a specially designed virus to deliver a healthy gene copy that helps produce alpha-galactosidase A enzyme. The goal is to enable the body to produce the missing enzyme, potentially reducing symptoms and improving quality of life.
Summary
The seven ongoing clinical trials for Fabry Disease represent diverse treatment approaches including enzyme replacement therapies, gene therapies, and substrate reduction therapies. Several studies focus on different patient populations, from children as young as 2 years old to adults with specific complications like heart enlargement or severe kidney problems.
Geographically, the trials are concentrated in Western and Central Europe, with Austria, France, Germany, Norway, and Spain hosting the most studies. Italy, Belgium, Denmark, Czechia, Poland, Netherlands, Greece, and Portugal also participate in these research efforts.
Two trials are testing ST-920 gene therapy, representing an innovative approach that could provide long-lasting benefits. Multiple studies are evaluating pegunigalsidase alfa across different age groups and disease stages. Other treatments under investigation include migalastat for patients with kidney complications, venglustat for those with heart involvement, and lucerastat as an oral substrate reduction therapy.
Many trials are long-term extension studies running until 2025, 2027, or even 2040, reflecting the importance of understanding treatment effects over extended periods in this chronic genetic condition.
