Research Updates: Gene Therapy & Drug Repurposing for AP-4 HSP

We are encouraged to share meaningful progress on two important fronts in the fight against AP-4 HSP: a promising drug repurposing effort and an advancing gene therapy trial.

Drug Update

Unravel Bio has identified an FDA-approved drug that appears promising for individuals with AP-4 HSP. Because this medication is already approved for another indication, it offers a potentially faster path to understanding whether it may benefit our community.

The goal is to launch a formal study in the near future. This study will:

• Include multiple participants

• Be overseen by a qualified physician

• Receive IRB (Institutional Review Board) approval to ensure safety, ethics, and participant protection

What makes this development especially exciting is that this drug has the potential to help all AP-4 subtypes, not just one specific genetic variant. In addition, unlike the gene therapy trial—which is limited to children under five—this clinical study would be geared toward an older age group, offering hope to many individuals who are not eligible for gene therapy.

The hope is that this drug may help address spasticity, seizures, cognition, and potentially other symptoms associated with AP-4 HSP. While it's too soon to tell anything with certainty, this approach offers a meaningful opportunity to better understand how an existing medication might improve quality of life across the AP-4 community.

Gene Therapy Update

The Phase 1/2 gene therapy trial for AP-4 HSP has received FDA approval, and Boston Children’s Hospital is ready to begin. The clinical team, trial design, and infrastructure are all in place.

The final step is funding:

• $5 million is needed to fully fund the trial

• $2 million will allow the trial to kick-start

• The initial trial will include 5 children

This trial represents a critical step toward a potential disease-modifying treatment for AP-4 HSP.

👉 You can learn more about the gene therapy trial here:
https://clinicaltrials.gov/study/NCT06948019