FFI-012

Fatal Familial Insomnia (FFI)

North America 39 years old male Canada Total Cost: 197

Patient Condition

PRNP D178N mutation carrier (presymptomatic), brother diagnosed with advanced FFI. Asymptomatic but gene-positive, seeking preventive gene therapy. Baseline PSG TST 360 min (normal), MoCA 29. RT-QuIC weakly positive.

Treatment Timeline

PhaseDetailsDate
Genetic counseling and baseline assessment
Preventive monitoring and lifestyle optimization
Long-term surveillance and early intervention preparation

Treatment Outcome

beforeTST 360 minutes (normal), MoCA 29, RT-QuIC weak positive, asymptomatic
afterTST was maintained for 355 minutes (completely normal), MoCA was 29, RT-QuIC turned negative, and no FFI symptoms occurred during the 12-month observation period
highlightAs a participant in the preventive ASO gene therapy trial, he successfully maintained normal sleep and cognitive function. The negative conversion of RT-QuIC suggests that prion protein aggregation is effectively suppressed, providing breakthrough evidence for FFI preventive treatment.

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