Fabry Disease

Researchers are evaluating the safety, tolerability, and pharmacodynamics of 4D-310, a gene therapy, in adults with Fabry Disease who have heart involvement. This open-label, dose-escalation trial includes adult males and females aged 18 to 65 years and aims to understand how the treatment works after a single intravenous dose. Fabry Disease is a condition that affects multiple organs, including the heart, and requires new treatment approaches. Participants receive one single intravenous administration of 4D-310 at different dose levels as part of the study. The trial includes several dose groups, with some dose levels no longer enrolling. The study is conducted across multiple centers and is designed to carefully monitor responses to the gene therapy over time. During the study, participants will be regularly assessed for safety by tracking any adverse events for one year following treatment. Researchers will also monitor how the body responds to the therapy through various evaluations. The total participation time includes screening, treatment, and follow-up visits to ensure thorough observation of treatment effects and safety.

Researchers are conducting a global prospective observational study involving women with Fabry disease who are pregnant or breastfeeding, along with their infants. The study aims to evaluate outcomes related to pregnancy and breastfeeding in women and infants who have been exposed to the drug migalastat. An unexposed group of women with Fabry disease may also be included for comparison. This study will collect data over a minimum of 10 years to gain comprehensive insights. The study includes two groups Cohort 1 consists of pregnant or breastfeeding women with Fabry disease who have taken at least one dose of migalastat during this time, while Cohort 2 includes similar women who have not been exposed to migalastat. Participants are reported voluntarily from any country by healthcare providers, patients, or secondary contacts. The Pregnancy Coordinating Center will follow the mothers through pregnancy and breastfeeding, and their infants up to one year old. Participants will have their pregnancies and infants monitored for various outcomes such as birth defects, miscarriage, fetal death, delivery complications, infant growth measurements, allergic reactions, hospitalizations, and mortality up to one year of age. Data collection includes monitoring major and minor birth defects, neurodevelopmental problems, jaundice, and serious adverse events in both mothers and infants. This long-term follow-up helps researchers understand the effects of migalastat exposure during pregnancy and breastfeeding.

Researchers are conducting a large, multi-country observational study to assess the safety and effectiveness of pegunigalsidase alfa Elfabrio in patients with Fabry disease. This study includes patients who are currently treated with pegunigalsidase alfa in routine care and gathers data both retrospectively and prospectively. The study considers different patient groups such as those with Fabry-related heart disease, treatment-nave patients, and those transitioning from an earlier open-label extension study. The treatment being observed is pegunigalsidase alfa, administered through intravenous infusion as part of routine clinical care. Participants are grouped into cohorts based on their disease status and treatment history, including a cardiac cohort with Fabry-related heart involvement, a nave cohort who have not received prior Fabry treatment, and a long-term cohort of patients continuing from a previous clinical study. The study does not intervene in treatment but observes patients receiving this drug in real-world settings. Participants will be followed for up to four years, during which researchers will collect various clinical measurements such as kidney function estimated glomerular filtration rate, plasma lysoGb3 levels, heart structure and function via left ventricular mass index and cardiac biomarkers, and overall safety assessments. Data will be collected through routine clinical visits, imaging studies, and patient-reported outcomes. The study aims to provide comprehensive long-term information on the effects and safety of pegunigalsidase alfa in everyday clinical practice.

Researchers are evaluating a gene therapy called AAV9-GLB1 for treating Type I and Type II GM1 gangliosidosis, a rare and fatal disorder that destroys nerve cells due to a deficiency in the enzyme beta-galactosidase. This trial aims to test if the gene therapy can help improve symptoms related to these types of GM1 gangliosidosis. The study is a Phase 12 non-randomized trial focusing on safety and effectiveness in children ranging from 6 months to 12 years old, sponsored by the National Human Genome Research Institute NHGRI. Participants will receive a single intravenous infusion of the AAV9-GLB1 gene therapy at doses determined in stages. In Stage 1, different groups of Type I and Type II subjects will receive varying doses to assess safety. Immune system modulation drugs such as rituximab, sirolimus, methylprednisolone, and prednisone will be given before and after gene therapy to reduce immune reactions. Participants will stay at the study site for 8 to 10 weeks initially and may remain for additional safety monitoring after infusion. Stage 2 will administer the dose selected based on Stage 1 data, with further assessments planned. During the study, participants will undergo many tests including blood and urine tests, heart and hearing assessments, ultrasounds, EEGs, lumbar punctures, MRIs, bone scans, IQ and speech tests, and neurological exams. Central line placement and skin biopsies may also be done. Follow-up visits will occur at 3 and 6 months after treatment, then every 6 months for 2 years, and again at 3 years, with yearly visits for 2 more years in an extension study. Researchers will monitor safety, brain development, neurological function, motor skills, and immune responses throughout the study period.

Researchers are conducting a study to systematically screen newborns in the Normandy region for lysosomal storage diseases such as Mucopolysaccharidosis type I and Pompe disease. This observational study aims to evaluate the occurrence and epidemiology of these diseases using dried blood samples collected from newborns. The study is based on previous pilot work and seeks to include about 100,000 newborns over a period of three years. All newborns born in Normandy maternity hospitals who are participating in the national neonatal screening program will have additional blood samples collected on blotting paper for this study. The screening occurs within the first few days after birth, typically from day 2 to day 4. The study will continue until the target number of participants is reached. Participants will have blood samples collected as part of routine neonatal screening, with extra samples taken specifically for this research. The main outcome measured is the number of newborns screened relative to the number of samples collected. Secondary outcomes include the number of positive cases detected for Mucopolysaccharidosis type I and Pompe disease. The study involves parental consent and monitors newborns during these early days, with no further intervention or long-term follow-up described.

Fabry Disease is a rare inherited blood disorder caused by low levels of an enzyme called alpha-galactosidase A. This enzyme normally breaks down fat-like substances, but without enough of it, these substances can build up in blood vessels and harm vital organs such as the heart, kidneys, and brain over time. This study aims to learn more about the treatment effects of agalsidase alfa Replagal4, an enzyme replacement therapy, in Chinese children and adults with Fabry disease by observing its impact on heart and kidney function, quality of life, and safety in routine clinical use. Participants in this study will receive enzyme replacement therapy with agalsidase alfa as part of their usual clinical care in China. This is a non-interventional, observational study where no additional study-specific visits are scheduled. The treatment follows routine practice settings, and researchers will monitor participants receiving this therapy over time. During the study lasting up to 18 months, participants will be observed for changes in heart function using measures like left ventricular mass index and ejection fraction, and kidney function using estimated glomerular filtration rate and urine analyses. Quality of life assessments and monitoring of adverse events will also be conducted. The study collects data from regular clinical visits without extra procedures, aiming to understand how agalsidase alfa works and its safety in real-world treatment of Fabry disease.

Researchers are evaluating the safety, pharmacokinetics PK, pharmacodynamics PD, and efficacy of migalastat treatment in children aged 2 to less than 12 years with Fabry disease who have specific amenable GLA gene variants. This Phase 3b, open-label, uncontrolled, multicenter study focuses on pediatric subjects who have either never received enzyme replacement therapy ERT or have stopped ERT at least 14 days before the baseline visit. Participants will receive migalastat orally every other day, with the initial dose based on body weight at baseline. The study includes two consecutive treatment stages Stage 1 lasts about 3 months 12 weeks, followed immediately by Stage 2 lasting 9 months. After completing treatment, participants who stop treatment will have a 30-day safety follow-up period. Blood samples will be collected at specific times to measure migalastat levels and understand how the drug behaves in the body. During the study, participants will be monitored through various assessments including laboratory tests to evaluate safety, kidney function, heart measurements, symptom scores, and quality of life questionnaires. Blood samples for PK analysis will be collected at multiple points including during the first month and at 6 and 12 months. The study will track side effects and changes in disease markers throughout the 12 months of treatment, with continued safety monitoring during the follow-up period.

Researchers are conducting a global observational study to assess the long-term effects of treatments on patients with Fabry disease, focusing mainly on the drug migalastat. The study aims to evaluate the safety, effectiveness, and health-related quality of life among patients receiving different treatments or no treatment at all. This study plans to enroll at least 450 patients, including those treated with migalastat, enzyme replacement therapy ERT, and untreated individuals who have never received therapy for Fabry disease. Participants will be grouped based on their treatment status those treated with migalastat within 24 months before enrollment, those receiving ERT within the same period, and untreated patients meeting criteria for migalastat treatment. Enrollment will last for 5 years, and all patients will be followed for up to 5 years after joining. The study is non-interventional, meaning patients will continue their usual care while researchers collect data on their condition and treatment effects. During the study, participants will provide information through medical assessments and questionnaires to track kidney function, clinical events related to Fabry disease, enzyme activity, pain levels, gastrointestinal symptoms, and quality of life over time. Researchers will also monitor safety events and overall survival. Data will be collected retrospectively and prospectively, covering up to 5 years. The studys main measure is the change in kidney function rate. Participants can expect periodic evaluations to understand how treatments impact their health and well-being over the long term.

Researchers are evaluating the safety and effectiveness of Replagal in children and adults with Fabry disease in India. This open-label, single-arm Phase IV study aims to better understand the safety profile of Replagal by monitoring participants for about one year. Fabry disease participants must have a confirmed diagnosis based on gene mutation or enzyme deficiency and show clinical symptoms. Participants will receive Replagal at a dose of 0.2 mg per kilogram through intravenous infusion starting on Day 1 and then every two weeks up to Week 51. The treatment is given at the clinic and is designed to assess safety and potential benefits over approximately one year. This study does not include a comparison group and focuses on the effects of Replagal alone. During the study, participants will have regular assessments including kidney function tests, heart measurements, urine analyses, and quality of life questionnaires at various time points up to Week 53. Researchers will monitor adverse events, infusion reactions, and any treatment-related side effects throughout the study. Participants will be followed closely with scheduled visits to evaluate safety and any changes in their condition over the course of the year.

Researchers are evaluating the safety and effects of the study drug pegunigalsidase alfa PRX-102 in children and adolescents aged 2 to 17 years with Fabry disease. This enzyme replacement therapy is given intravenously every two weeks. The study focuses on finding the safest and most effective dose and understanding how PRX-102 impacts symptoms of Fabry disease including kidney and heart function, pain, and digestive issues. The trial includes 20 to 22 boys and girls divided into three age groups 2 to 7 years, 8 to 12 years, and 13 to under 18 years. The study has three stages Stage I to find the right dose, Stage II to confirm safety and how well the drug works, and an optional Stage III extension that continues until the drug is commercially available or the study ends. PRX-102 is given every two weeks during study visits, and doses may be adjusted based on early results. Participants will have regular visits every two weeks for treatment and assessments. These include physical exams, heart ultrasounds and ECGs, questionnaires on symptoms and quality of life, and blood and urine tests to monitor safety, disease severity, and how the drug behaves in the body. Blood samples are taken multiple times over several days to study drug levels. The main outcomes measured include side effects, heart and kidney function, pain levels, and quality of life over 12 months.