Glycogen Storage Disease Type II (GSD II) Clinical Trials

Glycogen Storage Disease Type II results from mutations in the GAA gene encoding acid alpha-glucosidase, the sole enzyme responsible for degrading glycogen within lysosomes. GAA deficiency leads to massive glycogen accumulation, particularly in cardiac myocytes, skeletal muscle fibers, and anterior horn cells. The pathophysiology involves lysosomal dysfunction, autophagic impairment, cellular stress, and ultimately muscle fiber death.

The most common symptoms of Glycogen Storage Disease Type II include Infantile form: hypotonia, failure to thrive, and profound muscle weakness, Cardiomyopathy with heart enlargement and failure, Progressive respiratory muscle weakness requiring ventilation, Late-onset: progressive proximal muscle weakness starting in childhood, Adult-onset: slow progressive myopathy primarily affecting legs and trunk, among others. Approximately 1 per 14,000 to 1 per 40,000 live births globally; infantile form is most common. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Glycogen Storage Disease Type II from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Research in Glycogen Storage Disease Type II is advancing through multiple complementary approaches. Enzyme replacement therapy remains foundational, with ongoing research optimizing dosage schedules and administration approaches.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Glycogen Storage Disease Type II. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Glycogen Storage Disease Type II is caused by variants in the GAA gene. Same disorder as Pompe disease; all forms are biallelic GAA variants.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. Approximately 1 per 14,000 to 1 per 40,000 live births globally; infantile form is most common. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Glycogen Storage Disease Type II looks at the GAA gene. Same disorder as Pompe disease; all forms are biallelic GAA variants.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Glycogen Storage Disease Type II clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Glycogen Storage Disease Type II clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.