Glycogen storage disease type II – European Clinical Trials Information Network https://clinicaltrials.eu Bridging Patients with Clinical Trials Tue, 23 Jun 2026 04:07:25 +0000 en-US hourly 1 https://wordpress.org/?v=7.0 https://clinicaltrials.eu/wp-content/uploads/2024/12/cropped-EU_icon-32x32.png Glycogen storage disease type II – European Clinical Trials Information Network https://clinicaltrials.eu 32 32 A Study of S-606001 Added to Enzyme Replacement Therapy for Patients with Late-Onset Pompe Disease https://clinicaltrials.eu/trial/a-study-of-s-606001-added-to-enzyme-replacement-therapy-for-patients-with-late-onset-pompe-disease/ Wed, 29 Apr 2026 15:08:51 +0000 https://clinicaltrials.eu/trial/a-study-of-s-606001-added-to-enzyme-replacement-therapy-for-patients-with-late-onset-pompe-disease/ This study involves people with late-onset Pompe disease, which is a rare inherited condition where the body cannot properly break down a complex sugar called glycogen. This leads to a buildup of glycogen in muscles, causing muscle weakness that gets worse over time, including weakness in the muscles used for breathing and walking. The study will test a medication called S-606001, which will be given as tablets taken by mouth. Some participants will receive S-606001 while others will receive placebo. All participants will continue to receive their regular treatment called enzyme replacement therapy, which is a standard treatment for Pompe disease where missing enzymes are given through an infusion into a vein.

The purpose of this study is to see if S-606001 when added to enzyme replacement therapy can improve lung function in people with late-onset Pompe disease. The study will also look at how safe the medication is and how it affects the body. During the study, participants will be randomly assigned to receive either S-606001 or placebo in addition to their regular enzyme replacement therapy. The treatment period will last for about one year.

Throughout the study, participants will have regular check-ups to measure their lung function, muscle strength, and ability to walk and perform daily activities. These measurements will include breathing tests while sitting and lying down, a walking test where participants walk for six minutes, and tests of muscle strength. Participants will also be asked questions about their energy levels, pain, breathing difficulties, and quality of life. Blood samples will be taken to check how the medication works in the body and to monitor safety. The study team will also monitor for any side effects and perform regular physical examinations, heart tests, and laboratory tests throughout the study period.

]]> Study on the Effects of Alglucosidase Alfa Enzyme Therapy in Children and Adults with Pompe Disease https://clinicaltrials.eu/trial/study-on-the-effects-of-alglucosidase-alfa-enzyme-therapy-in-children-and-adults-with-pompe-disease/ Wed, 29 Apr 2026 15:05:30 +0000 https://clinicaltrials.eu/trial/study-on-the-effects-of-alglucosidase-alfa-enzyme-therapy-in-children-and-adults-with-pompe-disease/ This clinical trial focuses on studying the effects of enzyme therapy in individuals with Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency. The treatment being used in this study is called Myozyme, which contains the active substance alglucosidase alfa. This medication is administered as a solution for infusion, meaning it is given directly into the bloodstream through a vein.

The purpose of the study is to increase understanding of the long-term effects of enzyme replacement therapy and to improve care for both children and adults with Pompe disease. Participants in the study will receive regular treatments with Myozyme and will be monitored over time to assess various health outcomes. These include survival, muscle strength and function, motor and mental development, lung function, heart health, hearing, and overall quality of life. The study also aims to gather information on the costs associated with Pompe disease and the impact of enzyme therapy on these costs.

Throughout the study, researchers will collect data to help develop guidelines for when to start or stop enzyme therapy and to determine the best dosing strategy. The study will also explore the possibility of safely administering enzyme therapy at home. By participating in this study, researchers hope to learn more about the ability of skeletal muscles to recover and grow in individuals with Pompe disease.

]]> Long-Term Safety Study of Avalglucosidase Alfa for Patients with Pompe Disease in France https://clinicaltrials.eu/trial/long-term-safety-study-of-avalglucosidase-alfa-for-patients-with-pompe-disease-in-france/ Wed, 29 Apr 2026 15:00:58 +0000 https://clinicaltrials.eu/trial/long-term-safety-study-of-avalglucosidase-alfa-for-patients-with-pompe-disease-in-france/ This clinical trial is focused on studying the long-term safety and effectiveness of a treatment for Pompe disease, also known as Glycogen storage disease type II. The treatment being tested is called avalglucosidase alfa, which is also known by the code name GZ402666. This medication is given as a solution through an intravenous infusion, which means it is administered directly into the bloodstream through a vein.

The purpose of the study is to assess the long-term safety of avalglucosidase alfa in patients who have previously participated in other studies related to this treatment. Participants in this study will receive the medication over a period of time, and their health will be monitored to identify any adverse events, which are any unwanted effects that might occur during the treatment. The study will also evaluate the participants’ ability to walk a certain distance in six minutes, their lung function, and their overall quality of life. For those with late-onset Pompe disease, additional assessments will include motor function tests and specific quality of life evaluations. For those with infantile-onset Pompe disease, evaluations will include a pediatric disability inventory and a heart function test.

This study is an extension of previous research and will continue until the medication is reimbursed in France or until December 2025, whichever comes first. Participants will be closely monitored throughout the study to ensure their safety and to gather important data on the effectiveness of avalglucosidase alfa in managing Pompe disease.

]]> Study on the Safety and Effects of SPK-3006 for Adults with Late-Onset Pompe Disease https://clinicaltrials.eu/trial/study-on-the-safety-and-effects-of-spk-3006-for-adults-with-late-onset-pompe-disease/ Wed, 29 Apr 2026 14:59:13 +0000 https://clinicaltrials.eu/trial/study-on-the-safety-and-effects-of-spk-3006-for-adults-with-late-onset-pompe-disease/ This clinical trial is focused on studying Pompe Disease, also known as glycogen storage disease type II. This is a rare genetic disorder that affects the body’s ability to break down glycogen, a stored form of sugar used for energy. The study will use a treatment called SPK-3006, which is a solution for infusion. This treatment involves a single intravenous infusion, meaning it is administered directly into the bloodstream through a vein. The active substance in SPK-3006 is called vanglusagene ensiparvovec, which is a specially designed viral vector that helps deliver a gene to produce a necessary enzyme in the body.

The purpose of the study is to evaluate the safety and tolerability of SPK-3006 in adults with late-onset Pompe Disease. Participants will receive a single dose of the treatment, and the study will gradually increase the dose levels to observe how the body responds. The study will monitor participants for any adverse effects, changes in vital signs, and immune responses. It will also assess how well the treatment works by measuring changes in physical abilities, such as walking distance, and lung function.

Throughout the study, researchers will collect information on the levels of the enzyme produced by the treatment and any signs of muscle injury or glycogen buildup. The study aims to provide valuable insights into the potential benefits and risks of SPK-3006 for individuals with late-onset Pompe Disease. Participants will be closely monitored to ensure their safety and to gather comprehensive data on the treatment’s effects.

]]> Study on Reducing Treatment Frequency of Alglucosidase Alfa for Elderly Patients with Late-Onset Pompe Disease https://clinicaltrials.eu/trial/study-on-reducing-treatment-frequency-of-alglucosidase-alfa-for-elderly-patients-with-late-onset-pompe-disease/ Wed, 29 Apr 2026 14:57:30 +0000 https://clinicaltrials.eu/trial/study-on-reducing-treatment-frequency-of-alglucosidase-alfa-for-elderly-patients-with-late-onset-pompe-disease/ This clinical trial is focused on studying a condition known as Pompe disease, specifically in elderly patients who have a late-onset form of the disease. Pompe disease is a rare genetic disorder that affects muscle strength and function. The treatment being investigated in this study is called alglucosidase alfa, which is currently administered as an infusion every two weeks. The study aims to explore whether reducing the frequency of this treatment to once every four weeks is safe and does not lead to worsening of the disease.

The purpose of the study is to determine if patients with late-onset Pompe disease can maintain their muscle strength, muscle function, and lung function with less frequent treatment. Participants will receive alglucosidase alfa at a dose of 20 mg per kilogram of body weight every four weeks. The study will monitor the patients over a period of nine months to ensure that the less frequent treatment does not cause any negative effects on their health.

Throughout the study, various aspects of the patients’ health will be assessed, including their muscle strength, ability to perform daily activities, and lung function. The study will also keep track of any side effects or reactions to the treatment. If the results show that the less frequent treatment is safe and effective, there may be potential to further reduce or even discontinue the treatment in the future. This study is an important step in understanding how to best manage Pompe disease in elderly patients.

]]> Study on the Effectiveness and Safety of Avalglucosidase Alfa for Babies with Infantile-Onset Pompe Disease https://clinicaltrials.eu/trial/study-on-the-effectiveness-and-safety-of-avalglucosidase-alfa-for-babies-with-infantile-onset-pompe-disease/ Wed, 29 Apr 2026 14:27:34 +0000 https://clinicaltrials.eu/trial/study-on-the-effectiveness-and-safety-of-avalglucosidase-alfa-for-babies-with-infantile-onset-pompe-disease/ This clinical trial is focused on studying a rare genetic disorder known as Glycogen Storage Disease Type II, commonly referred to as Pompe Disease. This condition affects the body’s ability to break down glycogen, a stored form of sugar, leading to muscle weakness and other serious health issues. The study is specifically targeting infants with the early-onset form of this disease, known as Infantile-Onset Pompe Disease (IOPD). The treatment being tested is called Avalglucosidase Alfa, which is a type of enzyme replacement therapy. This therapy aims to provide the missing enzyme that helps break down glycogen in the body.

The purpose of the study is to evaluate the effectiveness and safety of Avalglucosidase Alfa in infants who have not previously received treatment for IOPD. Participants in the study will receive the treatment through an intravenous infusion, which means the medication is delivered directly into the bloodstream through a vein. The study will monitor the participants over a period of time to assess their survival and whether they can live without the need for invasive breathing support, such as a ventilator, after 52 weeks of treatment.

Throughout the study, various health indicators will be observed, including changes in heart size, growth measurements like body length and weight, and motor skills development. The study will also track any side effects or reactions to the treatment. The goal is to gather comprehensive data on how Avalglucosidase Alfa impacts the health and development of infants with IOPD, providing valuable insights into the potential benefits and risks of this treatment option.

]]> Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease https://clinicaltrials.eu/trial/study-on-long-term-safety-and-efficacy-of-cipaglucosidase-alfa-and-miglustat-for-adults-with-late-onset-pompe-disease/ Wed, 29 Apr 2026 14:27:23 +0000 https://clinicaltrials.eu/trial/study-on-long-term-safety-and-efficacy-of-cipaglucosidase-alfa-and-miglustat-for-adults-with-late-onset-pompe-disease/ This clinical trial is focused on studying the long-term safety and effectiveness of a treatment for Pompe disease, specifically in adults with the late-onset form of the disease. Pompe disease is a rare genetic disorder that affects muscle function due to the buildup of a complex sugar called glycogen in the body’s cells. The treatment being studied involves two medications: ATB200 and AT2221. ATB200 is administered through an intravenous (IV) injection, which means it is given directly into a vein, while AT2221 is taken orally in the form of a capsule. The purpose of this study is to assess how safe and tolerable these medications are when used together over a long period.

Participants in the study will receive the treatment and be monitored for any side effects or changes in their health. The study will track various health indicators, such as the distance a participant can walk in six minutes, muscle strength, and overall physical function. These measures help researchers understand how the treatment affects the participants’ ability to perform daily activities and their overall quality of life. The study will also look at any potential immune reactions to the treatment, as well as changes in certain blood and urine markers that are related to Pompe disease.

The study is designed to last for several years, allowing researchers to gather comprehensive data on the long-term effects of the treatment. Participants will have regular check-ups and assessments to ensure their safety and to evaluate the treatment’s impact on their condition. This research aims to provide valuable insights into the management of Pompe disease and potentially improve treatment options for those affected by this condition.

]]> Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-onset Pompe Disease https://clinicaltrials.eu/trial/study-on-the-safety-and-effects-of-cipaglucosidase-alfa-and-miglustat-for-children-with-infantile-onset-pompe-disease/ Wed, 29 Apr 2026 14:26:29 +0000 https://clinicaltrials.eu/trial/study-on-the-safety-and-effects-of-cipaglucosidase-alfa-and-miglustat-for-children-with-infantile-onset-pompe-disease/ This clinical trial is focused on studying a rare genetic disorder called Infantile-onset Pompe Disease, which affects children from birth to under 18 years old. The study will explore the effects of two treatments: cipaglucosidase alfa and miglustat. Cipaglucosidase alfa is a protein-based treatment given through an intravenous infusion, which means it is delivered directly into the bloodstream through a vein. Miglustat is a chemical-based treatment taken orally in the form of a hard gelatin capsule.

The purpose of the study is to evaluate the safety and tolerability of these treatments when used together in children who have previously received enzyme replacement therapy (ERT) and those who have not. The study will involve monitoring the participants over a period of time to observe any reactions to the treatments and to assess their overall health. Participants will receive the treatments for up to 104 weeks, which is about two years.

Throughout the study, researchers will pay close attention to any infusion-associated reactions, which are responses that might occur when the treatment is administered. They will also monitor for any other side effects, changes in vital signs, and results from heart tests like echocardiograms and ECGs. The study aims to provide valuable information on how these treatments can help manage Infantile-onset Pompe Disease in children.

]]> Study on the Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Children with Late-onset Pompe Disease https://clinicaltrials.eu/trial/study-on-the-safety-and-efficacy-of-cipaglucosidase-alfa-and-miglustat-for-children-with-late-onset-pompe-disease/ Wed, 29 Apr 2026 14:26:26 +0000 https://clinicaltrials.eu/trial/study-on-the-safety-and-efficacy-of-cipaglucosidase-alfa-and-miglustat-for-children-with-late-onset-pompe-disease/ This clinical trial is focused on studying Late-onset Pompe disease, a rare genetic disorder that affects muscle function. The study will evaluate the safety and effectiveness of two treatments: Cipaglucosidase Alfa and Miglustat. Cipaglucosidase Alfa is a protein-based treatment given through an injection, while Miglustat is a chemical-based treatment taken as a capsule by mouth. The purpose of the study is to assess how well these treatments work together in children and teenagers with this condition.

Participants in the study will receive both treatments over a period of up to 52 weeks. During this time, researchers will monitor the participants to see how their bodies respond to the treatments. This includes checking for any side effects and measuring changes in muscle strength and breathing ability. The study aims to provide valuable information on how these treatments can help manage the symptoms of Late-onset Pompe disease in young patients.

The study is open-label, meaning that both the participants and the researchers know which treatments are being administered. This approach helps in closely observing the effects of the treatments. The information gathered from this study will contribute to understanding the potential benefits and risks of using Cipaglucosidase Alfa and Miglustat together for managing Late-onset Pompe disease in children and teenagers.

]]> Study on the Effects of Avalglucosidase Alfa Enzyme Replacement Therapy in Patients with Pompe Disease https://clinicaltrials.eu/trial/study-on-the-effects-of-avalglucosidase-alfa-enzyme-replacement-therapy-in-patients-with-pompe-disease/ Wed, 29 Apr 2026 14:25:22 +0000 https://clinicaltrials.eu/trial/study-on-the-effects-of-avalglucosidase-alfa-enzyme-replacement-therapy-in-patients-with-pompe-disease/ This clinical trial is focused on studying Pompe Disease, a rare genetic disorder that affects muscle function. The study will use a treatment called Nexviadyme, which contains the active substance avalglucosidase alfa. This treatment is given as a solution through an infusion, which means it is delivered directly into the bloodstream. The purpose of the study is to understand how this enzyme replacement therapy affects muscle glycogen, a type of sugar stored in muscles, in patients who have not previously received this type of treatment.

Participants in the study will receive the treatment over a period of 12 months. During this time, researchers will monitor changes in the glycogen levels in various muscles, including the hamstring, calf, anterior thigh, and lumbar muscles. The study will also look at changes in the fat content of these muscles and how these changes relate to the participants’ ability to walk and breathe over the course of the study.

The trial aims to provide valuable insights into how enzyme replacement therapy can help manage Pompe Disease by observing changes in muscle glycogen and other related factors. This information could be crucial for improving treatment strategies for individuals living with this condition.

]]> Study on Gene Therapy with AAV9.LAMP2B for Male Patients with Danon Disease https://clinicaltrials.eu/trial/study-on-gene-therapy-with-aav9-lamp2b-for-male-patients-with-danon-disease/ Wed, 29 Apr 2026 14:25:20 +0000 https://clinicaltrials.eu/trial/study-on-gene-therapy-with-aav9-lamp2b-for-male-patients-with-danon-disease/ This clinical trial is focused on studying Danon Disease, a rare genetic disorder that affects the heart and other parts of the body. The study will use a treatment called RP-A501, which is a type of gene therapy. This therapy involves using a virus, specifically the Adeno-Associated Virus Serotype 9, to deliver a healthy version of a gene known as LAMP2B into the body. The goal is to see if this treatment can improve heart function in male patients with Danon Disease.

The purpose of the study is to evaluate the effectiveness and safety of the RP-A501 treatment. Participants will receive the treatment through an intravenous infusion, which means it will be delivered directly into the bloodstream. The study will monitor how well the treatment works by looking at specific markers in the heart tissue and measuring changes in heart size and function. The study will also track any side effects or safety concerns that may arise during the treatment period.

Throughout the study, participants will undergo regular check-ups and tests to assess their heart health and overall well-being. The study aims to provide valuable information on whether RP-A501 can be a beneficial treatment option for those with Danon Disease, potentially leading to improved quality of life and better management of the condition. The study is expected to continue for several years to gather comprehensive data on the treatment’s long-term effects.

]]> Study on the Safety and Efficacy of Avalglucosidase Alfa for Patients Aged 5 and Older with Non-Classic Pompe Disease https://clinicaltrials.eu/trial/study-on-the-safety-and-efficacy-of-avalglucosidase-alfa-for-patients-aged-5-and-older-with-non-classic-pompe-disease/ Wed, 29 Apr 2026 14:23:02 +0000 https://clinicaltrials.eu/trial/study-on-the-safety-and-efficacy-of-avalglucosidase-alfa-for-patients-aged-5-and-older-with-non-classic-pompe-disease/ This clinical trial is focused on studying the effects of a treatment for Pompe disease, specifically the non-classic form of this condition. Pompe disease is a rare genetic disorder that affects the body’s ability to break down a complex sugar called glycogen, leading to muscle weakness and other health issues. The treatment being tested in this study is called avalglucosidase alfa, which is also known by the code name Nexviadyme. This medication is given as a solution through an intravenous infusion, which means it is administered directly into the bloodstream through a vein.

The purpose of the study is to explore the safety and effectiveness of avalglucosidase alfa in patients aged 5 years and older who have non-classic Pompe disease and are experiencing a decline in their condition despite receiving standard treatment. Participants in the study will receive avalglucosidase alfa and will be monitored for any side effects or improvements in their health. The study will look at various aspects of the participants’ health, including muscle strength, muscle function, and lung function, to determine how well the treatment works.

Throughout the study, researchers will assess the safety of avalglucosidase alfa by keeping track of any adverse events, such as infusion-related reactions, and by checking for the presence of antibodies against the medication. They will also conduct laboratory tests to evaluate liver and muscle function. The study aims to provide valuable information about the potential benefits and risks of using avalglucosidase alfa for treating non-classic Pompe disease, which could help improve treatment options for patients with this condition in the future.

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