AAV Gene Therapy for H-ABC: Hope in Progress

What is AAV Gene Therapy?

Adeno-associated virus (AAV) gene therapy is one of the most promising approaches for treating genetic diseases, including leukodystrophies like H-ABC/TUBB4A. AAV vectors are currently the leading platform for delivering genes into human cells due to their relative safety, long-lasting effects, and ability to target specific tissues.

Recent scientific breakthroughs—including optimized AAV capsids, refined genome design, and cutting-edge delivery techniques—have rapidly accelerated the development of AAV-based therapies. Today, AAV gene therapy is being used in gene replacement, gene silencing, and gene editing strategies, and two AAV-based treatments have already received FDA and European approvals, paving the way for others like it.

Ongoing advancements in understanding vector biology, immune responses, and delivery challenges are essential to expanding AAV’s impact—and H-ABC is now part of that momentum.


The Research Initiative

In September 2020, the Foundation to Fight H-ABC entered into a sponsored research agreement with UMass Chan Medical School to explore AAV gene therapy as a potential cure for H-ABC.

The research aims to develop AAV vectors that can silence or outcompete the mutated TUBB4A gene, which causes H-ABC. This strategy could halt the disease’s devastating neurological progression—particularly if delivered early. The treatment would be a single administration, offering the potential for long-term or even permanent benefit.

The project is currently in its discovery phase (Year 4). If efficacy is demonstrated, the next step will be preclinical testing in primates, followed by submission to the FDA for review—a critical step on the path to clinical trials.

Portrait of a Dr. Guangping Gao, wearing glasses, a blue blazer, and a checkered shirt, smiling in an office setting.

Meet the Lead Investigator: Dr. Guangping Gao

Guangping Gao, PhD

  • Co-Director, Li Weibo Institute for Rare Diseases Research

  • Director, Horae Gene Therapy Center and Viral Vector Core

  • Professor of Microbiology and Physiological Systems

  • Penelope Booth Rockwell Professor in Biomedical Research

  • UMass Chan Medical School

Dr. Gao is a world-renowned gene therapy pioneer whose groundbreaking work has shaped the modern gene therapy field. He was instrumental in discovering and characterizing a new family of AAV serotypes—work that reinvigorated gene therapy globally and helped lay the foundation for today’s clinical successes.

With nearly 30 years of experience, Dr. Gao’s expertise spans:

  • Rare disease gene discovery

  • AAV vector engineering and biology

  • In vivo gene delivery

  • Preclinical modeling and therapy development

  • Viral vector manufacturing and platform development

Dr. Gao will serve as the Principal Investigator leading this research into an AAV-based gene therapy for H-ABC.

Why It Matters

There are currently no available treatments for H-ABC/TUBB4A. If left untreated, the disease is progressive and ultimately fatal. But if this research succeeds, it could stop disease progression—offering families hope for a healthier future.

We are proud to be supporting this groundbreaking work—and invite others to join us in helping make a cure possible.