O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts

increase from baseline: 851% and 271%, respectively; both p<0.0001; n=12), and were sustained 48 weeks post-gene therapy (mean [SD] change from baseline in CSF HVA levels, 28.3 [13.7] nmol/L; mean percentage increase from baseline, 1073%; p=0.0003; n=9) (mean [SD] change from baseline in F-DOPA uptake, 0.253 [0.120]; mean percentage increase from baseline, 296%; p<0.0001; n=10).Among the 12 participants who reached week 48, nine achieved full head control, seven achieved sitting with assistance and four of these participants could sit unassisted.Two participants achieved walking backwards using a normal stride.TEAEs recorded in >50% of participants in the 48 weeks post-gene therapy were pyrexia, dyskinesia and diarrhea.No TEAEs were deemed to be related to the SmartFlow MR-compatible ventricular cannula.Conclusion: CSF HVA levels and F-DOPA uptake were statistically significantly increased from baseline to week 8 and were sustained up to 48 weeks following treatment with eladocagene exuparvovec in pediatric patients with AADC deficiency.These findings coincided with increased acquisition of motor milestones.Administration with the SmartFlow cannula was well tolerated.