Gene therapy for Aspartylglucosaminuria to improve neurological function

IND-enabling studies for Aspartylglucosaminuria (AGU) to support the initiation of an AAV9/AGA gene transfer clinical trial

NIH-funded research Ut Southwestern Medical Center · NIH-10913596

This study is testing a new gene therapy that aims to help people with Aspartylglucosaminuria (AGU) by delivering a healthy version of the faulty gene directly into the spinal canal, with the hope of improving brain function and slowing down the disease.

Quick facts

Grant typeU01 cooperative agreement
Study typeNIH-funded research
Funding institutionUt Southwestern Medical Center NIH-funded
Lab location1 site (Dallas, United States)
Project IDNIH-10913596 on NIH RePORTER

What this research studies

This research focuses on developing a gene therapy approach to treat Aspartylglucosaminuria (AGU), a severe genetic neurological disorder caused by a faulty AGA gene. The therapy aims to deliver a functional copy of the AGA gene using an AAV9 vector, which will be injected into the spinal canal. By restoring the enzyme's function, the research hopes to improve lysosomal function and reduce the harmful accumulation of substances that lead to neurological decline. This innovative approach is designed to address the underlying cause of AGU, potentially altering the disease's progression.

Who could benefit from this research

Good fit: Ideal candidates for this research are children under 11 years old diagnosed with Aspartylglucosaminuria.

Not a fit: Patients with other unrelated neurological disorders or those over the age of 11 may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could significantly improve the quality of life and neurological function for patients with Aspartylglucosaminuria.

How similar studies have performed: Previous gene therapy trials for similar genetic disorders have shown promising results, indicating the potential for success with this approach.

Where this research is happening

Dallas, 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.
Conditions Austin syndromeBatten DiseaseBatten-Mayou DiseaseBatten-Spielmeyer-Vogt Disease
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.