Gene therapy for glycogen storage disease type III

NIH-funded research Duke University · NIH-11053467

This study is testing a new gene therapy for people with glycogen storage disease type III, aiming to help their bodies break down harmful glycogen buildup in muscles and the liver by using a special virus to deliver a helpful enzyme.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionDuke University NIH-funded
Lab location1 site (Durham, United States)
Project IDNIH-11053467 on NIH RePORTER

What this research studies

This research investigates a new gene therapy approach for glycogen storage disease type III (GSD III), a genetic disorder that leads to harmful glycogen accumulation in muscles and liver. The therapy utilizes an adeno-associated virus (AAV) vector to deliver a modified version of the glycogen debranching enzyme, which is crucial for breaking down glycogen. By incorporating a small bacterial enzyme and a dual promoter to minimize immune response, the goal is to enable long-term expression of the therapeutic enzyme in affected tissues. This innovative approach aims to provide a potential treatment option for patients suffering from this debilitating condition.

Who could benefit from this research

Good fit: Ideal candidates for this research are individuals diagnosed with glycogen storage disease type III, particularly those with both muscle and liver involvement.

Not a fit: Patients with other forms of glycogen storage diseases or those without a confirmed diagnosis of GSD III may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could provide a long-term therapeutic solution for patients with glycogen storage disease type III, potentially improving their quality of life and reducing disease-related complications.

How similar studies have performed: Previous research has shown promise in using AAV-mediated gene therapy for other inherited muscle and liver disorders, indicating potential for success in this novel application.

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.