AAV TREATMENT

On September 21, 2020, the Foundation to Fight H-ABC entered into a sponsor research agreement with the University of Massachusetts to pursue gene therapy for a cure.  The Foundation is actively seeking support from donors and interested parties to support the cost of the research as presented herein, to save the lives of the young children affected by this disease, which if left untreated, is fatal. This therapy is a one time treatment and has shown significant promise with the recent approval by the FDA in March 2024 for similar leukodystrophy called MLD.

What is AAV Gene Therapy? 

Adeno-associated virus (AAV) vectors are the leading platform for gene delivery for the treatment of a variety of human diseases. Recent advances in developing clinically desirable AAV capsids, optimizing genome designs and harnessing revolutionary biotechnologies have contributed substantially to the growth of the gene therapy field. Preclinical and clinical successes in AAV-mediated gene replacement, gene silencing and gene editing have helped AAV gain popularity as the ideal therapeutic vector, with two AAV-based therapeutics gaining regulatory approval in Europe or the United States. Continued study of AAV biology and increased understanding of the associated therapeutic challenges and limitations will build the foundation for future clinical success.  

Nature Article: 01 February 2019 - Adeno-associated virus vector as a platform for gene therapy delivery, by Dan Wang, Phillip W. L. Tai & Guangping Gao.

Principal Investigator

Dr. Guangping Gao, PhD, University of Massachusetts Medical School

Guangping Gao, PhD is the 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, University of Massachusetts Medical School.

Dr. Gao is an internationally recognized gene therapy researcher who has played a key role in the discovery and characterization of new family of adeno-associated virus (AAV) serotypes, which was instrumental in reviving the gene therapy field, hugely impacting many currently untreatable human diseases

For nearly 30 years of his scientific research career, Dr. Gao has primarily focused on molecular genetics and viral vector gene therapy of rare genetic diseases, encompassing disease gene cloning, causative mutation identification, pathomechanism investigation, animal modeling, novel viral vector discovery and engineering for in vivo gene delivery, vector biology, preclinical and clinical gene therapy product development, viral vector manufacturing for preclinical and clinical gene therapy applications as well as technology platforms development as novel approaches for human gene therapy.  Dr. Gao will be the principal investigator for this project..

The Project

Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy. Currently there are no therapies available to treat H-ABC. 

The goal of the research is to develop AAV vectors to silence and/or out compete mutated TUBB4A gene for gene therapy of H-ABC.   The project timeline is 24 months.