Quality of life and effectiveness of vutrisiran as treatment for hereditary transthyretin amyloidosis.

OBJECTIVES

To assess changes in quality of life in patients with rare disease hereditary transthyretin amyloidosis after initiating vutrisiran. Secondary objectives included evaluating effectiveness and safety.

METHODS

Prospective, observational study, conducted in a real-world clinical setting between November 2023 and May 2024. Quality of life was assessed using Norfolk QOL-DN questionnaire at baseline and six months after treatment initiation. Statistical analysis was performed using SPSS Statistics®, and the Wilcoxon signed-rank test was applied to compare outcomes.

RESULTS

Twenty-five patients were included. The median Norfolk QOL-DN score changed from 54 [40.5; 77.5] to 48 [32.0; 83.0] after six months (p = 0.935). NIS scores decreased from 41 [14.0; 70] to 22 [6.0; 66.5] (p = 0.177). Serum TTR levels were maintained or reduced to undetectable levels in all patients. NT-proBNP decreased from 464.0 [102.0; 827.0] to 345.0 pg/mL [146.0; 995.0] (p = 0.518). No treatment-related adverse events were reported.

CONCLUSION

Although statistical significance was not reached, vutrisiran maintained or improved quality of life and clinical status in a real-world population that was more pretreated and had greater disease burden than the clinical trial. Combined with its favorable safety profile, subcutaneous administration, and extended dosing interval-preferred by patients-vutrisiran represents a promising therapeutic option for ATTRv amyloidosis. Long-term real-world studies are warranted to confirm these findings.