Lysosomal lipid storage disorder

This study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as p…

This study tested the safety and effectiveness of eliglustat, an oral medication, in 57 children aged 2 to 17 with Gaucher disease types 1 and 3. Some children also received the standard enzyme therapy imiglucerase. Researchers measured how the drug moves through the body, side e…

This early-stage trial tested a new gene therapy called FLT201 in 10 adults with Gaucher disease type 1. The therapy uses a harmless virus to deliver a working copy of the gene that produces a missing enzyme. The main goal was to check safety and see if the treatment can boost en…

This study looked at the long-term safety and effectiveness of a drug called pegunigalsidase alfa for adults with Fabry disease, a rare genetic condition. Participants received an infusion every four weeks for up to several years. The goal was to see if the drug is safe over time…

This study tested an oral drug called AZ-3102 in 13 people with GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) or Niemann-Pick type C disease. The main goal was to check safety and how the drug moves through the body over 12 weeks. It was a randomized, double-blind, placebo-c…

This study followed 24 people with metachromatic leukodystrophy (MLD), a rare and serious brain disease, who were already receiving an experimental drug called HGT-1110. The main goal was to check for side effects and immune reactions over a long period. Researchers wanted to see…

This study followed 26 people with Anderson-Fabry disease, some taking the enzyme replacement drug Replagal® and some not, to see how their hearts changed over two years. Researchers used special MRI scans to measure heart tissue relaxation time, which may indicate early damage. …

This trial tested a new gene therapy called ST-920 for Fabry disease, a rare genetic condition. The therapy uses a harmless virus to deliver a working gene that helps the body produce an enzyme it's missing. 36 adults with Fabry disease received a single intravenous dose and were…

This study followed 3 people with acid sphingomyelinase deficiency (ASMD) who had already completed earlier trials of olipudase alfa. The goal was to monitor safety and side effects while they continued receiving the enzyme replacement therapy every two weeks until the drug was o…

This study tested an experimental drug called METAZYM (a lab-made enzyme) in one child with late infantile metachromatic leukodystrophy (MLD) who had already received a stem cell transplant. The goal was to see if the enzyme could improve nerve function and reduce harmful buildup…

This study tested the safety and effectiveness of atorvastatin (Lipitor) in 15 children with Alagille syndrome who had skin cholesterol deposits called xanthomas. The children took the drug for 6 months, and doctors graded the size and number of the lumps. The goal was to see if …

This study looked at the long-term safety of pegunigalsidase alfa, an enzyme replacement therapy, in 97 adults with Fabry disease. Participants received the drug intravenously every two weeks for up to several years. The main goal was to track side effects and see how well the dr…

This study tested a gene therapy called OTL-200 in 10 children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. The treatment uses the child's own blood stem cells, modified to produce a missing enzyme, and aims to slow or stop disease progres…

This completed study in Japan looked at the safety and effectiveness of the drug VPRIV (velaglucerase alfa) in 63 people with Gaucher disease. Participants were either new to treatment or switching from another Gaucher therapy. The main goal was to track side effects and serious …

This study tested a gene therapy for children with early-onset metachromatic leukodystrophy (MLD), a rare and severe brain disease. Five children aged 6 months to 5 years received injections of a harmless virus carrying a working copy of the ARSA gene directly into their brains. …

This phase 3 trial tested a new version of the drug agalsidase beta (AGA BETA BS) in 20 people with Fabry disease who were already stable on the standard drug Fabrazyme. Participants switched to the new drug for 54 weeks to see if it worked just as well. The main goal was to keep…

This study looked at the long-term safety of a drug called migalastat in 16 people over age 12 with Fabry disease, a rare genetic disorder. Participants had already completed an earlier study and continued taking migalastat to see if it was safe and how it affected kidney functio…

This early-phase study tested a drug called adrabetadex (VTS-270) given through a vein to treat liver disease in infants with Niemann-Pick disease type C, a rare and fatal genetic disorder. Four babies up to 6 months old received multiple doses to see if the drug could lower abno…

This study tested a gene therapy for children with metachromatic leukodystrophy (MLD), a rare, inherited brain disease that causes severe disability and early death. The treatment uses the child's own blood stem cells, which are modified in a lab to carry a working copy of the mi…

This study tested a one-time gene therapy for children with a rare, severe brain disease called variant late infantile Batten disease. The treatment delivers a working CLN6 gene into the spinal fluid to help slow the loss of motor and language skills. The trial included 13 childr…

This study tested whether giving Fabrazyme, a lifelong enzyme replacement therapy for Fabry disease, at a faster infusion rate is safe and tolerable. Eight patients who had been on Fabrazyme without recent reactions participated. The goal was to see if shortening infusion time co…

This study tested the enzyme replacement drug imiglucerase (Cerezyme) in 12 Chinese patients with Gaucher disease type 3, a rare genetic disorder that affects the brain and body. Participants received the highest approved dose (60 units per kilogram) every two weeks for one year.…

This study tested the safety and effectiveness of Fabrazyme (agalsidase beta) in 22 Chinese patients with Fabry disease, a rare genetic disorder. Participants received enzyme replacement therapy through IV infusions over 54 weeks. The study monitored side effects and changes in d…

This study tested the drug miglustat in 6 adults aged 17 and older with CLN3 Batten disease, a rare genetic disorder that causes nerve damage. The goal was to see if the drug is safe and to find the best dose over 2 years. Researchers tracked side effects and how the drug moved t…

This study tested whether a special MRI scan called T1 mapping can detect kidney damage in people with Fabry disease, a rare genetic disorder. Researchers compared MRI results from 70 adults with and without Fabry disease. The goal was to see if this non-invasive scan could help …

This study tested 776 people with chronic pain of unknown cause to see if they had Fabry disease, a rare inherited disorder that can cause pain, kidney, heart, and nerve problems. Researchers used enzyme tests in men and genetic tests in women to find cases. The goal was to see h…

This completed study used PET and MRI scans to compare brain dopamine function in people with Gaucher disease or Parkinson disease, their family members, and healthy volunteers. Researchers aimed to see if certain genetic mutations cause early changes in dopamine storage. The stu…

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

This study looked at how blood vessel function relates to heart blockage in people with a genetic heart condition called hypertrophic cardiomyopathy. Researchers measured blood flow and vessel flexibility in 40 adults. The goal was to understand the connection, not to test a trea…

This study tested 137 people with chronic pain of unknown cause to see if they had Fabry disease, a rare genetic disorder. Researchers used blood tests to check for the condition. The goal was to find out how common Fabry disease is in this group and help diagnose it earlier.

This study collected information from over 15,000 people hospitalized with cardiomyopathy, a heart muscle disease. Researchers looked at how much these hospital stays cost and what the money was spent on. The goal was to understand the real-world financial impact and help manage …

This completed study monitored 100 adults with Fabry disease using a wearable device and questionnaires to measure physical activity, sleep, and quality of life. The goal was to understand how daily movement and rest relate to anxiety, depression, and overall well-being. No treat…

This study aims to develop a computer algorithm that can detect Fabry disease earlier by analyzing hospital electronic health records. Researchers will look at data from the past 10 years to see if they can identify patients with Fabry disease using a ranking system. No drugs or …

This study checked in on 5 adults with Fabry disease who had been taking enzyme replacement therapy (ERT) since childhood for about 15 years. Researchers measured kidney function and heart health to see how well the long-term treatment worked. The goal was to gather follow-up dat…

This study followed 10 people with late onset Tay-Sachs disease to see how their symptoms and body chemistry changed over six months. Researchers measured balance, coordination, and brain chemicals. The goal was to gather information that will help design better clinical trials f…

This study looked for two rare genetic diseases, Gaucher disease and acid sphingomyelinase deficiency (ASMD), in 122 adults with an unexplained enlarged spleen or who had their spleen removed for unknown reasons. Researchers used a simple blood spot test to check enzyme activity …

This study measured levels of brain chemicals related to oxidative stress and inflammation in people with type 1 Gaucher disease and healthy volunteers. Researchers gave 33 participants with Gaucher disease the antioxidant N-acetylcysteine (NAC) for about 90 days to see if it cha…

This completed study looked at how much time healthcare professionals spend preparing and giving enzyme replacement therapy (ERT) to adults with Fabry disease. It also measured the impact on patients and their caregivers, including time, costs, and quality of life. The goal was t…

This study used powerful MRI scans to track how a rare genetic disease called metachromatic leukodystrophy (MLD) damages the brain's white matter in young children. Researchers studied 29 children aged 1 to 6 years with MLD, along with a control group, to better understand how th…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This study followed 31 children with infantile or juvenile GM1 gangliosidosis, a rare and severe genetic disorder, for up to 3 years. Researchers collected data from exams, blood tests, and developmental assessments to better understand how the disease progresses. The goal was to…

This early study tested whether a new version of the enzyme replacement drug agalsidase beta (made by Biosidus) works similarly to the approved drug Fabrazyme. Twenty-four healthy men received a single infusion of one of the two drugs. Researchers measured how the drug moved thro…

This study looked for Fabry disease, a rare genetic disorder, in 409 Portuguese adults with unexplained heart muscle diseases. Researchers tested patients with different types of cardiomyopathy to see how many actually had Fabry disease. The goal was to better understand how comm…

This study followed 31 children with GM1 or GM2 gangliosidosis (including Tay-Sachs and Sandhoff disease) to carefully measure how their neurological symptoms, like walking and speech, change over time. The goal was to create a clear picture of disease progression to help design …

This study examined 60 children under 18 with an unexplained enlarged spleen to see how often rare diseases like Gaucher disease were the cause. Researchers ruled out common reasons first, then tested for specific enzyme deficiencies. The goal was to better understand what hidden…

This early-stage study gave a single dose of the experimental drug venglustat to 6 healthy men to see how it is processed and eliminated from the body. Researchers measured radioactivity in urine, feces, and blood to map the drug's breakdown and excretion. The goal was to underst…