Gene therapy to treat glycogen storage disease type III (GSD III)

Gene therapy for glycogen storage disease type III

NIH-funded research Duke University · NIH-11306653

This project will use an AAV gene therapy carrying a smaller bacterial enzyme and immune-sparing control elements to help adults with GSD III clear harmful glycogen from liver and muscle.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionDuke University NIH-funded
Lab location1 site (Durham, United States)
Project IDNIH-11306653 on NIH RePORTER

What this research studies

From a patient perspective, researchers are packaging a compact bacterial version of the missing debranching enzyme into an AAV9 viral carrier so the defective enzyme can be delivered to liver and muscle. They are adding a novel dual promoter designed to reduce immune attack so the enzyme can keep working long-term. The approach is being tested in a mouse model of GSD III to see if it reduces abnormal glycogen buildup and prevents tissue damage. The project is focused on preparing the data and safety approach needed to move this therapy toward human trials.

Who could benefit from this research

Good fit: Ideal candidates for future trials would be adults diagnosed with GSD III (including those with both liver and muscle involvement) who meet standard gene therapy eligibility criteria.

Not a fit: People without GSD III, those with end-stage organ failure not correctable by gene therapy, or individuals with high pre-existing immunity to the AAV vector may not benefit.

Why it matters

Potential benefit: If successful, this approach could reduce or prevent liver failure and muscle damage in people with GSD III and offer a long-lasting treatment rather than only supportive care.

How similar studies have performed: AAV gene therapies have worked for other inherited liver and muscle diseases in humans, but using a bacterial debranching enzyme with an immune-tolerizing promoter for GSD III is a novel strategy that has only shown promise so far in animal models.

Where this research is happening

Durham, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.