INV20
LYS-SAF302 gene therapy study in Mucopolysaccharidosis type IIIA (MPS IIIA) children
M Hocquemiller ¹ P Drevot ¹ M Deneux ¹ M Trad ¹ R Laufer ¹ K Aiach ¹ A Chakrapani ² R Crystal ³ T de Saint-Denis ⁴ L Emrick ⁵ D Guillaume ⁶ B Heron ⁷ N Muschol ⁸ M Souweidane ³ R Y Wang ⁹ C B Whitley ⁶ F Wijburg ¹⁰ M Zerah ⁴
1: Lysogene 2: Great Ormond Street Hospital 3: Weill Cornell Medicine 4: Necker Hôpital Enfants Malades 5: Texas Children's 6: University of Minnesota 7: Hôpital Trousseau 8: University Medical Center 9: CHOC children's 10: Academic Medical Center Genetic Metabolic Disorders
Mucopolysaccharidosis type IIIA (MPSIIIA) or Sanfilippo A (OMIM 252900) leads to early-onset neurodegeneration and premature death. AAVance is a Phase 2-3, single-arm, international study of AAVrh.10 carrying the human SGSH cDNA (LYS-SAF302 (olenasufligene relduparvovec)), delivered directly to the brain via intraparenchymal infusion, for the treatment of MPS IIIA (NCT03612869). Eight clinical sites in the US and Europe are participating in this trial. The trial is fully enrolled, with 19 patients dosed from February 2019 to March 2020. The primary objective of AAVance is to assess the drug efficacy in improving or stabilizing the neurodevelopmental status of patients compared to the expected evolution based on natural history data. Safety, tolerability, biomarkers, effect on behavior, sleep and quality of life are secondary endpoints. Preclinical work and an update on the status of the clinical study (including data on safety and biomarkers) will be presented.