Clinical Trials for Glycogen Storage Disease Type II

Glycogen storage disease type II, also known as Pompe disease or acid maltase deficiency, is a rare genetic disorder caused by the buildup of glycogen in the body’s cells. Currently, 12 clinical trials are actively recruiting or ongoing across Europe, investigating enzyme replacement therapies, gene therapies, and treatment optimization strategies for both infantile-onset and late-onset forms of the disease. These trials are being conducted in countries including the Netherlands, Germany, Italy, France, Belgium, Denmark, Spain, and others, offering patients access to innovative treatments such as avalglucosidase alfa, cipaglucosidase alfa combined with miglustat, and novel gene therapy approaches.

Clinical trial locations

• Belgium
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
  • Study on the Effectiveness and Safety of Avalglucosidase Alfa for Babies with Infantile-Onset Pompe Disease
• Czechia
  • Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
• Denmark
  • Study on the Effects of Avalglucosidase Alfa Enzyme Replacement Therapy in Patients with Pompe Disease
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
• France
  • Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-onset Pompe Disease
  • Long-Term Safety Study of Avalglucosidase Alfa for Patients with Pompe Disease in France
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
  • Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
• Germany
  • Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-onset Pompe Disease
  • Study on the Safety and Effects of SPK-3006 for Adults with Late-Onset Pompe Disease
  • Study on the Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Children with Late-onset Pompe Disease
  • Study on Gene Therapy with AAV9.LAMP2B for Male Patients with Danon Disease
  • Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
  • Study on the Effectiveness and Safety of Avalglucosidase Alfa for Babies with Infantile-Onset Pompe Disease
• Greece
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
• Hungary
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
  • Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
• Italy
  • Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-onset Pompe Disease
  • Study on the Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Children with Late-onset Pompe Disease
  • Study on Gene Therapy with AAV9.LAMP2B for Male Patients with Danon Disease
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
  • Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
  • Study on the Effectiveness and Safety of Avalglucosidase Alfa for Babies with Infantile-Onset Pompe Disease
• Netherlands
  • Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-onset Pompe Disease
  • Study on Reducing Treatment Frequency of Alglucosidase Alfa for Elderly Patients with Late-Onset Pompe Disease
  • Study on the Effects of Alglucosidase Alfa Enzyme Therapy in Children and Adults with Pompe Disease
  • Study on the Safety and Efficacy of Avalglucosidase Alfa for Patients Aged 5 and Older with Non-Classic Pompe Disease
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
  • Study on the Effectiveness and Safety of Avalglucosidase Alfa for Babies with Infantile-Onset Pompe Disease
• Poland
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
  • Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
• Slovenia
  • Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease
• Spain
  • Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
  • Study on the Effectiveness and Safety of Avalglucosidase Alfa for Babies with Infantile-Onset Pompe Disease

Study on the Effects of Avalglucosidase Alfa Enzyme Replacement Therapy in Patients with Pompe Disease

This trial, conducted in Denmark, is investigating avalglucosidase alfa enzyme replacement therapy in patients with late-onset Pompe disease who have never received this type of treatment before. The study focuses on understanding how this therapy affects muscle glycogen levels over a 12-month period.

Inclusion criteria: Participants must be at least 18 years old with genetically confirmed late-onset Pompe disease and must not have received enzyme replacement therapy previously.

Exclusion criteria: Patients who have already received treatment for Pompe disease cannot participate. Additionally, those who are part of vulnerable populations requiring special protection are excluded.

Study focus: The trial aims to measure changes in glycogen concentration in various muscles, including the hamstring, calf, anterior thigh, and lumbar muscles. Researchers will also evaluate changes in muscle fat content and correlate these findings with participants’ walking ability and lung function. The therapy is administered as Nexviadyme 100 mg through intravenous infusion.

Investigational drug: Avalglucosidase alfa is an enzyme replacement therapy designed to provide the missing enzyme that patients with Pompe disease lack. By supplying this enzyme, the therapy helps reduce glycogen buildup in muscles and aims to improve muscle function.

Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-onset Pompe Disease

This international trial, taking place in Germany, Italy, France, and the Netherlands, evaluates the combination of cipaglucosidase alfa and miglustat in children with infantile-onset Pompe disease. The study includes both treatment-naïve children and those who have previously received enzyme replacement therapy.

Inclusion criteria: For children aged 6 months to under 18 years (Cohort 1), participants must have received enzyme replacement therapy for at least 6 months. For infants aged 0 to under 6 months (Cohort 2), no previous enzyme replacement therapy is allowed. All participants must have a confirmed genetic diagnosis and documented heart muscle thickening at diagnosis.

Exclusion criteria: Children with known allergies to the study medications, those participating in other clinical trials, or those with serious medical conditions that could interfere with the study are excluded. Pregnant or breastfeeding participants and those with certain heart conditions or uncontrolled high blood pressure cannot join.

Study focus: The trial monitors participants over 104 weeks to assess safety and tolerability. Researchers track infusion-associated reactions, vital signs, and heart function through echocardiograms and ECGs. The study may extend for those who benefit without significant safety concerns.

Investigational drugs: Cipaglucosidase alfa is administered intravenously as enzyme replacement therapy to help break down accumulated glycogen. Miglustat is taken orally and works to enhance the effectiveness of enzyme replacement therapy by reducing glycogen production.

Study on the Safety and Effects of SPK-3006 for Adults with Late-Onset Pompe Disease

Conducted in Germany, this trial explores SPK-3006, a gene therapy approach for adults with late-onset Pompe disease. The study represents an innovative treatment strategy using a viral vector to deliver a functional gene.

Inclusion criteria: Participants must be at least 18 years old with confirmed late-onset Pompe disease. They should be able to walk at least a certain distance in a 6-minute walk test and have specific lung function measurements. Candidates must provide informed consent and agree to use reliable contraception.

Exclusion criteria: Those without a confirmed diagnosis, individuals outside the specified age range, or those considered part of vulnerable populations cannot participate.

Study focus: The trial uses a dose-escalation design to evaluate safety and tolerability. Participants receive a single intravenous infusion of SPK-3006, which contains vanglusagene ensiparvovec, a viral vector designed to help produce the necessary enzyme. The study monitors walking ability, lung function, muscle injury markers, and glycogen levels.

Investigational drug: SPK-3006 is a gene therapy that uses an adeno-associated virus to deliver a functional copy of the gene responsible for producing the missing enzyme in Pompe disease, potentially addressing the underlying genetic cause.

Study on the Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Children with Late-onset Pompe Disease

This trial in Germany and Italy investigates the combination therapy of cipaglucosidase alfa and miglustat in children and teenagers with late-onset Pompe disease over a 52-week period.

Inclusion criteria: Participants aged 12 to under 18 years (Cohort 1) must weigh 115 kg or less, have lung function of at least 30% of predicted capacity, and be able to walk at least 75 meters in 6 minutes. For children aged 0 months to under 12 years (Cohort 2), those aged 5 to under 12 must walk at least 40 meters. All participants need confirmed diagnosis and parental consent.

Exclusion criteria: Individuals without a confirmed diagnosis of late-onset Pompe disease or those outside the specified age ranges are excluded. Those unable to follow study procedures or from vulnerable populations cannot participate.

Study focus: The open-label study monitors participants through regular assessments of muscle strength, breathing ability, walking tests, and motor function evaluations. The study aims to gather comprehensive safety and efficacy data for this combination therapy in pediatric patients.

Investigational drugs: Cipaglucosidase alfa replaces the deficient enzyme, while miglustat enhances treatment effectiveness by reducing glycogen production. Both medications work together to improve treatment outcomes.

Study on Gene Therapy with AAV9.LAMP2B for Male Patients with Danon Disease

This trial in Italy and Germany focuses on Danon disease, a related genetic disorder that shares some features with Pompe disease. The study tests RP-A501, a gene therapy for male patients aged 8 and older.

Inclusion criteria: Participants must be male, at least 8 years old, with documented genetic variants of the LAMP2 gene. They must show heart muscle thickening with normal pumping function and experience mild to moderate physical limitations due to heart symptoms. Specific heart stress markers must be elevated.

Exclusion criteria: Those without Danon disease, females, and individuals from vulnerable populations are excluded.

Study focus: The trial delivers a healthy version of the LAMP2B gene using an adeno-associated virus through intravenous infusion. Researchers monitor heart function through regular assessments, tracking changes in heart structure and LAMP2 protein expression.

Investigational drug: RP-A501 uses AAV9 viral vector technology to deliver the correct LAMP2B gene to heart cells, aiming to improve heart function by addressing the genetic cause of Danon disease.

Study on Reducing Treatment Frequency of Alglucosidase Alfa for Elderly Patients with Late-Onset Pompe Disease

This Dutch trial explores whether elderly patients with late-onset Pompe disease can safely reduce their treatment frequency from every two weeks to every four weeks.

Inclusion criteria: Participants must be 50 years or older with confirmed diagnosis, currently receiving alglucosidase alfa treatment for at least 4 years, and maintaining stable clinical condition. They must be able to walk at least 150 meters in 6 minutes and have lung function above specified thresholds.

Exclusion criteria: Wheelchair users, those requiring respiratory support, patients at immediate risk of losing daily function abilities, and those in unstable condition are excluded.

Study focus: Over 9 months, the trial monitors muscle strength, function, and lung capacity with the reduced treatment frequency of 20 mg/kg every four weeks. Regular assessments ensure the less frequent schedule doesn’t cause disease progression.

Investigational drug: Alglucosidase alfa (Myozyme) is an established enzyme replacement therapy that provides the missing enzyme to help break down glycogen, reducing its accumulation in muscles.

Study on the Effects of Alglucosidase Alfa Enzyme Therapy in Children and Adults with Pompe Disease

This comprehensive Dutch observational study examines the long-term effects of Myozyme enzyme replacement therapy in both children and adults with Pompe disease.

Inclusion criteria: Participants must have genetically confirmed Pompe disease with documented enzyme deficiency. There is no age limit, though blood sample volumes differ for children under 12. Patients must show symptoms such as skeletal muscle weakness, reduced lung function, or heart muscle enlargement. Treatment initiation requires committee approval.

Exclusion criteria: Those without confirmed diagnosis, unable to provide informed consent, currently in conflicting trials, with conditions making participation unsafe, with severe allergic reactions to the therapy, or who are pregnant or breastfeeding cannot participate.

Study focus: The trial collects extensive data on survival, muscle strength and function, motor and mental development, lung and heart health, hearing, and quality of life. It aims to develop guidelines for treatment initiation and dosing strategies while exploring the possibility of home administration.

Investigational drug: Myozyme provides the missing acid alpha-glucosidase enzyme through intravenous infusion, helping reduce glycogen buildup and improve muscle function in affected individuals.

Study on the Safety and Efficacy of Avalglucosidase Alfa for Patients Aged 5 and Older with Non-Classic Pompe Disease

This Dutch study evaluates avalglucosidase alfa in patients aged 5 to 55 years with non-classic Pompe disease who are experiencing decline despite current treatment.

Inclusion criteria: Participants must be between 5 and 55 years old with childhood or juvenile/young adult symptom onset. They must have received alglucosidase alfa for at least 2 years and show worsening in lung function, walking ability, or muscle strength. Measurable lung function issues and muscle weakness are required, with wheelchair users allowed.

Exclusion criteria: Those without the specific disease, younger than 5 years old, or whose condition is not worsening on standard treatment cannot participate.

Study focus: The trial assesses whether switching to avalglucosidase alfa can improve outcomes in patients not responding optimally to standard alglucosidase alfa therapy. Regular monitoring tracks muscle strength, function, and lung capacity.

Investigational drugs: Avalglucosidase alfa is a next-generation enzyme replacement therapy designed to improve cellular uptake and glycogen breakdown compared to standard alglucosidase alfa.

Long-Term Safety Study of Avalglucosidase Alfa for Patients with Pompe Disease in France

This French extension study monitors the long-term safety and effectiveness of avalglucosidase alfa in patients who completed previous related trials.

Inclusion criteria: Participants must have completed one of three specific previous French studies: EFC14028, LTS13769, or ACT14132. Female participants of childbearing potential need negative pregnancy tests and agreement to use contraception. Both participants and guardians must be able to follow study procedures.

Exclusion criteria: Those who haven’t completed the specified previous studies, lack confirmed diagnosis, fall outside age ranges, cannot follow procedures, or have interfering medical conditions are excluded.

Study focus: The extension continues until medication reimbursement in France or December 2025, whichever comes first. Monitoring includes walking tests, motor function assessments, lung function tests, and quality of life evaluations tailored to disease onset type.

Investigational drug: Avalglucosidase alfa (Nexviadyme) is administered through intravenous infusion to provide enzyme replacement therapy, with frequency determined by the study protocol.

Study on Long-term Safety and Efficacy of Cipaglucosidase Alfa and Miglustat for Adults with Late-onset Pompe Disease

This large international trial spans Greece, Denmark, France, Netherlands, Slovenia, Belgium, Italy, Hungary, and Poland, examining the long-term effects of combined cipaglucosidase alfa and miglustat therapy in adults with late-onset disease.

Inclusion criteria: Participants must have completed the previous ATB200-03 study. Those who left that study for non-treatment-related reasons may still be eligible with medical monitor approval. All participants must agree to use effective contraception during the study and for 90 days after treatment ends.

Exclusion criteria: Non-adults, those without late-onset Pompe disease, individuals unable to safely take the study medications, and vulnerable populations are excluded.

Study focus: Running until December 2027, the trial monitors safety, walking distance, muscle strength, and respiratory function through regular assessments. The study tracks antibody development and various health indicators to evaluate long-term treatment effects.

Investigational drugs: ATB200 (cipaglucosidase alfa) provides enzyme replacement through intravenous infusion, while AT2221 (miglustat), taken orally, acts as a pharmacological chaperone to enhance enzyme stability and effectiveness.

Summary

The 12 ongoing clinical trials for glycogen storage disease type II demonstrate significant research activity across Europe, with the Netherlands leading in trial participation, hosting 6 studies. Germany follows with participation in 6 trials, while Italy, France, and Belgium are involved in multiple studies. This geographic concentration reflects established expertise centers for rare metabolic disorders in these countries.

The trials primarily investigate enzyme replacement therapies, with particular focus on newer formulations like avalglucosidase alfa and the combination of cipaglucosidase alfa with miglustat. Several studies explore innovative approaches, including gene therapy trials using viral vectors and treatment optimization strategies such as reduced dosing frequency in stable elderly patients.

Patient populations span from newborns with infantile-onset disease to adults with late-onset forms, reflecting the disease’s variable presentation. The research addresses critical questions about treatment effectiveness, long-term safety, and quality of life improvements. Many trials include extension phases to gather comprehensive long-term data, essential for understanding the sustained benefits and risks of these therapies.

These studies represent important opportunities for patients to access innovative treatments while contributing to medical knowledge that may improve future care standards for individuals living with this rare genetic disorder.