SPG 4 Denovo

Recent Advances in SPG4 Treatment Research: A Glimmer of Hope

July 2025

Gene Therapy: A Promising Approach

One of the most significant advancements in SPG4 research is the development of gene therapy aimed at correcting the underlying genetic mutation. In July 2024, the Lilly and Blair Foundation co-funded a gene therapy project involving multiple institutions, including Boston Children’s Hospital, Drexel University College of Medicine, UMass Chan Medical School, and the University of Wisconsin–Madison. The goal is to create a gene therapy that can replace the defective SPAST gene with a healthy copy, potentially halting or reversing disease progression.

As of May 2025, the research team has transitioned to using the PHP.eB capsid for intravenous delivery, which may simplify the treatment process and accelerate the path to clinical trials. The team is currently testing this new delivery method in a rat model, with results expected by August 2025.

Family Involvement and Advocacy

Families affected by SPG4, such as the Laidlaw family from Ottawa, have been instrumental in supporting and promoting research efforts. After their son Jack was diagnosed with SPG4 in December 2023, they connected with researchers at Boston Children’s Hospital and UMass Chan Medical School. Their advocacy has been crucial in raising awareness and funding for gene therapy research.

Challenges and Future Outlook

Despite these promising developments, challenges remain. The rarity of SPG4 makes it difficult to secure funding and resources for research. However, the collaborative efforts of researchers and families, along with support from organizations like the Lilly and Blair Foundation, are paving the way for potential treatments. If successful, gene therapy could offer a one-time treatment applicable to all individuals with SPG4, regardless of their specific mutation.(Boston Children’s Answers)

For more information or to support SPG4 research, consider visiting The Lilly and Blair Foundation or Blu Genes Foundation.