Disorder of glycogen metabolism

This trial tests an investigational medicine called ATR 1072 in adults with PRKAG2 syndrome, a genetic condition that causes abnormal heart muscle thickening and rhythm problems. The drug is designed to reduce the activity of the faulty PRKAG2 gene. Researchers are evaluating its…

This early-stage trial is testing a new drug called DNL952 in 32 adults with late-onset Pompe disease. The main goal is to check if the drug is safe and how the body processes it. Participants will receive the drug through an IV infusion at different doses.

This study tests a single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…

This study tests an experimental oral drug called S-606001 in 45 adults with late-onset Pompe disease. Participants take the drug or a placebo on top of their standard enzyme replacement therapy. The main goal is to see if the drug improves lung function and walking ability over …

This study tests a gene therapy called RP-A501 in 14 males with Danon disease, a rare genetic condition that causes heart problems. The treatment uses a harmless virus to deliver a working copy of the LAMP2 gene, aiming to improve heart muscle function and reduce thickening. Part…

This study tests a drug called avalglucosidase alfa in 13 Chinese children with infantile-onset Pompe disease, a rare genetic disorder that causes severe muscle weakness and heart problems. Participants will receive the drug through an IV every two weeks for about a year. The goa…

This study tests whether giving enzyme replacement therapy to fetuses with certain rare genetic diseases (like MPS I, Gaucher, or Pompe) before birth is safe and feasible. About 10 pregnant participants will receive the treatment through the umbilical vein. The goal is to see if …

This Phase 3 trial is testing a combination of two drugs—cipaglucosidase alfa (an enzyme replacement therapy) and miglustat (an oral medication)—in children with infantile-onset Pompe disease, a rare genetic disorder that weakens muscles and the heart. The study includes both chi…

This study tests a new drug called ION283 in 10 people aged 10 to 18 with Lafora disease, a rare and severe form of epilepsy. The drug is given via a spinal injection to see if it is safe and can help control seizures and other symptoms. All participants will receive the same dos…

This study tests a new gene therapy called BEAM-301 in 36 adults with glycogen storage disease type Ia (GSDIa) who have a specific gene change. The goal is to see if a single dose can safely improve blood sugar control and reduce the need for cornstarch supplements. Participants …

This expanded access program provides ATB200/AT2221 to people with Pompe disease who cannot join ongoing clinical trials or choose not to use standard therapy. The treatment combines an enzyme replacement therapy with a chaperone drug to help break down glycogen buildup. Particip…

This expanded access program offers a new treatment combination (ATB200 and AT2221) to children with infantile-onset Pompe disease who are not eligible for other clinical trials and are declining on standard enzyme replacement therapy. The goal is to provide access to this experi…

This study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This observational study follows people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401. The goal is to track their health and safety for at least 10 years after treatment. No new drugs or treatments are given in this study. It will help re…

This study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…

This study follows 60 people with Danon disease, a rare genetic heart condition, to learn how it progresses over time. Researchers will monitor heart function and symptoms in males aged 8 and older and females aged 8 to 50. The goal is to gather natural history data that could su…

This global registry enrolls people with Pompe disease to track how the condition changes over time, whether they receive treatment or not. By collecting data from up to 2,000 participants, researchers hope to better understand the disease's progression and improve patient care. …

This study aims to better understand how Pompe disease affects the nerves and muscles involved in breathing. Researchers will analyze nerve conduction and diaphragm activity in 20 adults with Pompe disease or unexplained respiratory failure. The goal is to identify patterns that …

This observational study looks at whether taking raw cornstarch with meals helps control blood sugar in adults with glycogen storage disease type I (GSD I). Eight participants will wear continuous glucose monitors and keep food diaries for two weeks. Researchers will compare bloo…

This study looks at whether adults with glycogen storage disease type I (GSDI) can safely include more fructose and galactose in their diet. Currently, patients must avoid these sugars, which limits food choices. Researchers will give 20 adults either fructose alone or fructose p…

This study gathers medical information from 200 people with glycogen branching enzyme deficiency, known as GSD IV or APBD. The goal is to learn how these rare diseases progress over time. No new treatments are tested; instead, researchers review clinic records to better understan…

This study is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab r…

This study follows pregnant women with Pompe disease to see how the condition and its treatments affect pregnancy and infant growth. Researchers will track complications and monitor babies for up to three years after birth. No new drugs are being tested; participants receive thei…

This study collects information from up to 250 patients with lysosomal storage diseases (like certain forms of MPS, Pompe, Gaucher, and Wolman disease) to understand how these conditions develop and respond to treatments given before birth. Researchers will track symptoms, lab re…

This study follows up to 400 children with Pompe disease to see how their immune system reacts to enzyme replacement therapy. Researchers will collect medical records from birth to age 18 to understand which children develop antibodies that block treatment. The goal is to improve…

This study is a global registry that will follow about 500 people with Pompe disease over time. It includes both treated and untreated patients, and aims to collect real-world data on treatment safety, effectiveness, and quality of life. No new treatments are being tested—this is…

This study aims to learn how Pompe disease affects the brain and nerves over the long term. Researchers will use brain scans, thinking and language tests, and muscle checks in 45 people with Pompe disease. Participants will be followed for 3 to 6 years. No new treatment is being …

This study looks at whether portable lactate monitors (like those used at home) give accurate results for people with glycogen storage disease type Ia. Ten participants will have their lactate and glucose levels measured by finger-stick and by standard lab tests. The goal is to s…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

This study gathers safety information from about 100 women with Pompe disease who received Nexviazyme while pregnant or breastfeeding, and from their babies. Researchers will track pregnancy complications, birth outcomes, and infant growth and development through the first year o…

This study tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…

This study looks at using liver elastography, a non-invasive ultrasound-like technique, to measure liver fibrosis in children with type III glycogen storage disease (GSDIII). The goal is to see if this method can replace painful liver biopsies for monitoring disease progression. …

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …