Lysosomal lipid storage disorder

This study looks at the long-term safety of a daily pill called lucerastat for adults with Fabry disease, a rare genetic disorder. About 107 people who completed a previous study will take the drug and be monitored for side effects over several years. The goal is to see if lucera…

This study tests a gene therapy called PBKR03 for babies with early infantile Krabbe disease, a severe genetic disorder that damages the brain and nerves. The treatment delivers a working copy of the GALC gene to the brain and body. Researchers will check safety and find the best…

This study tests a single dose of PBGM01, a gene therapy delivered directly into the fluid around the brain and spinal cord, in children with GM1 gangliosidosis. The therapy uses a harmless virus to carry a working copy of the GLB1 gene, which is missing or faulty in these patien…

This phase 3 study tests whether venglustat, an experimental oral drug, can slow heart thickening better than current standard treatments in 104 adults with Fabry disease. Participants are randomly assigned to venglustat or usual care (enzyme replacement or migalastat) for 18 mon…

This phase 2 trial tests an oral drug called venglustat, given alongside the standard enzyme therapy Cerezyme, in adults with Gaucher disease type 3 (a rare genetic disorder affecting the body and brain). The study has four parts: first, it checks spinal fluid biomarkers to disti…

This early-stage trial tests a one-time gene therapy called CLN-301 in 7 children aged 3 to 10 with CLN3 Batten disease, a rare genetic disorder that causes progressive loss of vision, movement, and thinking skills. The therapy delivers a working copy of the CLN3 gene directly in…

This study tests a one-time gene therapy infusion (FBX-101) given after a standard stem cell transplant in 6 children with infantile Krabbe disease, a severe genetic disorder affecting the nervous system. The therapy uses a harmless virus to deliver a working copy of the GALC gen…

This study follows 60 adults with Fabry disease who are receiving pegunigalsidase-alfa, a newer enzyme replacement therapy. Researchers want to see how well it works in everyday medical practice, especially for kidney function. Participants will be treated for 2 years at speciali…

This study tests whether injecting a replacement enzyme directly into the eye can slow or stop vision loss in children with CLN2 Batten disease, a rare genetic disorder that causes blindness and brain damage. Five children aged 2 to 6 who already receive brain infusions of the en…

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 tests the safety and how the body processes migalastat in 14 adults with Fabry disease who have severe kidney impairment or are on dialysis. Participants take migalastat capsules, and researchers measure drug levels in blood and dialysate. The goal is to ensure proper …

This early-phase trial is testing a single-dose gene therapy called LY3884961 in 7 infants with Type 2 Gaucher disease, a severe and rapidly fatal genetic disorder. The therapy is injected into the fluid around the brain and spinal cord to deliver a working copy of the faulty gen…

This study tests a new gene therapy called LY3884961 in 32 people with moderate to severe Parkinson's disease who have a specific genetic change (GBA1 mutation). The treatment is given as a single injection into the fluid around the brain and spinal cord. The main goal is to chec…

This early-phase trial tests a single intravenous dose of LY-M001 gene therapy in 9 children (ages 6 to 17) with type 1 Gaucher disease. The goal is to see if it is safe and can improve key symptoms like liver size and blood markers. Researchers will monitor participants for side…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This early-stage study tests a one-time gene therapy injection into the spinal fluid of children aged 1-18 with CLN7 Batten disease, a rare and fatal genetic brain disorder. The main goal is to check safety, but researchers will also measure changes in movement, thinking, and vis…

This early-phase trial tests a single infusion of a gene therapy called FBX-101 in 9 people with Krabbe disease who have already received a stem cell transplant. The therapy uses a harmless virus to deliver a working copy of the GALC gene, aiming to improve motor function and saf…

This study follows 75 people with Gaucher disease type 1 who previously received FLT201 gene therapy. Researchers will monitor them for 5 years to see if the treatment remains safe and if its effects last. The goal is to understand whether a single dose can provide long-term dise…

This phase 3 trial tests venglustat, a daily oral drug, against the standard IV treatment Cerezyme in 43 people with Gaucher disease type 3. Participants must have been on enzyme replacement therapy for at least 3 years. The goal is to see if venglustat can stabilize or improve n…

This study follows 7 people who previously received a gene therapy called AXO-AAV-GM2 for Tay-Sachs or Sandhoff disease — rare, fatal genetic disorders that destroy nerve cells. Researchers will track them for up to 5 years to see if the treatment remains safe and whether it help…

This study follows 10 people with CLN6 Batten disease who received a single dose of gene therapy (AT-GTX-501) in an earlier trial. Researchers are checking long-term safety and how the disease progresses over time. No new treatment is given in this follow-up.

This study tests a single infusion of OTL-200 gene therapy in 6 people with late juvenile metachromatic leukodystrophy (MLD), a rare genetic disease that damages the brain and nerves. The therapy uses the patient's own blood stem cells, modified to produce a missing enzyme. Resea…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study looks at whether a special brain scan called diffusion tensor imaging (DTI) can help doctors find Krabbe disease in newborns and decide who needs urgent treatment. About 100 babies with a positive newborn screen or family history of Krabbe disease will be scanned and f…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study is testing whether a 12-week physiotherapy and exercise program can improve physical fitness and quality of life in adults with Fabry disease. Fifteen participants will do regular exercise sessions using body weight, resistance bands, and increased daily activity. The …

This study tests whether venglustat can reduce nerve pain in the arms and legs, and belly pain, in people with Fabry disease. Participants are 16 or older and have not had Fabry treatment for at least 6 months. The trial lasts 12 months, with visits every 3 months, and compares v…

This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to bette…

This study follows 35 children with CLN2 disease (a rare, severe brain disorder) who are taking cerliponase alfa (Brineura). Researchers will monitor for side effects and serious reactions over time. The goal is to better understand the long-term safety of this enzyme replacement…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study follows 78 adults in Taiwan who have Fabry disease and carry a specific genetic mutation called GLA IVS4. Researchers are looking at how the disease affects the heart and other organs over time, both in people who have never been treated and those who have received aga…

This study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…

This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition where harmful substances build up and damage organs, especially the heart. Researchers use advanced heart scans and blood tests to track how the disease prog…

This study looks at whether people with Fabry, Gaucher, or Hunter disease are more likely to continue their IV treatment when it's given at home versus at a hospital. Researchers will review existing data from 222 patients in Mexico. No new treatments are given; the goal is to un…

This study watches 100 people with Fabry disease who are already taking enzyme replacement therapy as part of their regular care. Researchers want to see how the treatment affects their health over time by checking things like kidney function and pain levels. The study does not t…

This study looks at symptoms and lab tests to help doctors better diagnose acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, a rare genetic disorder. Researchers will track changes in spleen and liver size using ultrasound over 12 months in 7 patients. …

This study looks at how children with CLN2 Batten disease develop over time, including their thinking, language, and motor skills. Researchers will compare children who receive treatment (cerliponase alfa) with those who do not. The goal is to find better ways to measure the dise…