FFI-010

Fatal Familial Insomnia (FFI)

North America 33 years old male United States Total Cost: 194

Patient Condition

PRNP D178N mutation carrier (pre-symptomatic detection), father died of FFI. Currently in very early stage of disease, with only mild sleep fragmentation (TST 280 minutes, lower normal limit), occasional sleep hallucinations.

Treatment Timeline

PhaseDetailsDate
Comprehensive assessment and early intervention
Sleep stabilization and symptom monitoring
Long-term maintenance and preventive care

Treatment Outcome

beforeTST 280 minutes (low normal), sporadic sleep hallucinations, MoCA 28, RT-QuIC positive
afterTST was maintained for 280 minutes (no disease progression), RT-QuIC signal intensity was reduced by 35%, cognitive function was stable, and no new symptoms occurred within 6 months
highlightAs a participant in the pre-symptomatic ASO gene therapy trial, he successfully delayed disease progression, and the RT-QuIC biomarker showed a decrease in prion protein aggregation, providing important clinical data for FFI gene therapy.

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