Advocacy at warp speed: delivering the first gene replacement therapy for SLC6A1
Abstract
“We have now de-risked the SLC6A1 transgene and generated human data. That opens the door to many new research opportunities. Someone had to take that leap of faith, and now the data exist”In September 2025, patient-advocate Amber Freed’s son made history to become the first patient to receive a gene replacement therapy for SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD). Abi Pinchbeck (Editor, Cell & Gene Therapy Insights) speaks with Amber Freed (Founder and CEO, SLC6A1 Connect) about patient-led research, the rapid development of an AAV gene replacement therapy for SLC6A1-NDD, and the evolving role of advocacy in rare disease drug development.
Fields of Study & Subjects
Virus-based gene therapy research
Lysosomal Storage Disorders Research
Neurogenetic and Muscular Disorders Research
Publication details
- Journal / source
- Cell and Gene Therapy Insights
- Volume
- 12
- Issue
- 1
- Pages
- 33–37–33–37
- Publication date
- 4 February 2026
- Language
- EN