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AAV9 Gene Therapy for SPG4

Recent advancements in gene therapy for genetic diseases have given hope to the SPG4 community.  Gene therapy goes beyond treating symptoms.  With gene therapy, the faulty code in the DNA is fixed.  The flawed mutation is removed and a new, healthy gene replaces it.  In 2020, Cure SPG4 Foundation initiated a collaboration between leading experts at UMass Chan Medical School and Drexel University College of Medicine to begin work on AAV9 gene therapy for SPG4 Hereditary Spastic Paraplegia.   This project is ongoing. 

Basics of Gene Therapy

Gene therapy is the introduction, removal or change in genetic material—specifically DNA or RNA—into the cells of a patient to treat a specific disease. The transferred genetic material changes how a protein—or group of proteins—is produced by the cell.

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A healthy copy of the patient's defective gene is loaded into a virus that has been stripped of its own DNA.

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Trillions of viruses, each containing a healthy copy of the gene, are injected into the patient's spinal fluid. 

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The viruses bind to cells in the patient's spinal cord and brain and deliver healthy genes to the cell's nucleus.

Project Status

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AAV9 Vector Development

  • January 2022 - Dr. Miguel Sena-Esteves developed two AAV9 vectors designed to knock out the mutant SPAST and replace it with a healthy copy of the gene.  This method can treat any form of SPG4, no matter the specific mutation within the SPAST gene.

  • August 2022 - Four additional vectors were designed for use in animal studies.

AAV9 Cell and
Small Animal Testing

  • 2022 - Drexel University begins injecting AAV9 vectors into SPG4 mouse models

  • February 2023 - Positive initial results found after 3 months of treatment 

  • May 2023 - SPG4 affected mice, treated for 6 months with AAV9 gene therapy, show statistically significant improvement in behavioral function

  • Small animal testing is ongoing as team continues AAV9 treatment and data collection to compile evidence for safety and efficacy.

AAV9 Large
Animal Studies

  • September 2023 - Naturally occurring SPG4 cattle with severe phenotype have been identified.  Cure SPG4 Foundation awards grant to purchase 4 carrier cattle and support breeding costs to establish large stock.

  • Goal is to test AAV9 gene therapy on SPG4 cattle, as they are excellent test subjects and more similar to humans.  Critical funding is still needed to advance therapy to human trials! 

  • Please do your part and donate to help support and expedite this project.  100% of donations to Cure SPG4 Foundation go directly to the research!

Research Team

Cure SPG4 Foundation is proud to partner with some of the leading experts in SPG4 Hereditary Spastic Paraplegia and gene therapy research.  We are thankful for the efforts of the SPG4 gene therapy research team!

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