FABRY DISEASE

This study aims to learn about the safety and effects of Replagal, an enzyme replacement therapy, in Indian children and adults with Fabry disease. Participants will receive Replagal infusions every two weeks at a clinic for about one year. The research will monitor side effects …

This study is testing an enzyme replacement therapy called PRX-102 in children and adolescents aged 2 to 17 who have Fabry disease, a rare genetic disorder. The main goals are to find the safest and most effective dose for young patients and to see how well the treatment works at…

This study is testing a new, one-time gene therapy called EXG110 for people with Fabry disease, a rare genetic disorder. Researchers want to find a safe dose and see if it can help control the disease by improving kidney and heart function. The study is enrolling a small group of…

This is an early-stage study testing a single-dose gene therapy called AMT-191 in adult men with classic Fabry disease. The main goals are to find a safe dose and see how the body processes the treatment. The therapy aims to help the liver produce a missing enzyme, potentially of…

This study aims to understand how well a manufactured enzyme therapy works for people in China living with Fabry disease, a rare inherited disorder. Researchers will observe 200 children and adults who are already receiving this standard treatment in their regular care. The main …

This study aims to understand the long-term effects of the drug migalastat for adults with Fabry disease, a rare genetic disorder. Researchers will follow 450 patients for up to 5 years to see how well the treatment controls the disease, its safety, and its impact on quality of l…

This study is observing 100 adults with Fabry disease who are already taking or planning to take the medication Elfabrio® as part of their regular care. Researchers will collect information from medical records and ongoing check-ups to see how well the drug works and how safe it …

This study is testing a medication called migalastat in children aged 2 to under 12 years old who have Fabry disease, a rare genetic condition. The goal is to see if the drug is safe, how the body processes it, and if it helps control the disease over 12 months of treatment. The …

This study is testing a new drug called pegunigalsidase alfa (PRX-102) for Japanese adults and teenagers with Fabry disease, a rare genetic disorder. The main goal is to see if the drug is safe and if it can help prevent or reduce the health problems caused by the disease. Partic…

This study aims to see if a specific enzyme replacement therapy (agalsidase alfa) can reduce inflammation in the hearts of people with Fabry disease. Researchers will use detailed heart scans (PET-CMR) to measure inflammation in 25 patients before they start treatment and again a…

This study aims to better understand different types of small vessel brain diseases, which can lead to stroke or dementia. Researchers will use brain scans and genetic testing on 500 participants to see if they can identify patterns that predict who might develop these serious pr…

This international registry collects health information from 9,000 people with Fabry disease to better understand how this rare genetic condition progresses over time. Participants receive their normal medical care while researchers track their health outcomes, including pregnanc…

This study is testing whether a special type of MRI scan can detect and measure kidney damage in people with Fabry disease, a rare genetic disorder. Researchers will compare scan results from about 70 adults with Fabry disease to those from people without it. The goal is to see i…

This study aims to understand how treatments affect the quality of life for people aged 65 and older living with Fabry disease, a rare genetic disorder. Researchers will follow 100 participants for five years, comparing the daily life experiences of those receiving treatment to t…

This study aims to better understand how Fabry disease affects heart rhythms over time. Researchers will implant small heart monitors in 40 male patients with Fabry disease and track their heart activity for three years. The goal is to identify patterns and connections between he…

This study is testing whether advanced heart imaging techniques can improve how doctors diagnose and predict risks for rare heart muscle diseases. Researchers will use special heart scans to create detailed pictures of participants' hearts, looking for patterns that might help id…

This study aims to improve the diagnosis and understanding of rare diseases that cause strokes, which are often missed. It will enroll 500 people in Italy who have conditions like CADASIL or Moyamoya disease. Researchers will create a detailed patient registry and use virtual exp…