Quality of life and effectiveness of vutrisiran as treatment for hereditary transthyretin amyloidosis
Year: 2026
Type: article
Study design: Observational Study
Abstract: 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. 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. 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. 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. Evaluar los cambios en calidad de vida en pacientes con amiloidosis hereditaria por transtiretina tras iniciar vutrisirán. Objetivos secundarios fueron la efectividad y seguridad. Estudio prospectivo, observacional en vida real, realizado entre noviembre 2023-mayo 2024. La calidad de vida se evaluó mediante cuestionario Norfolk QOL-DN al inicio y a los seis meses del tratamiento. El análisis estadístico se realizó con SPSS Statistics® y se aplicó la prueba de rangos con signo de Wilcoxon. Se incluyeron 25 pacientes. La mediana de la puntuación Norfolk QOL-DN pasó de 54 [40.5;77.5] a 48 [32.0;83.0] (p = 0.935). La puntuación NIS disminuyó de 41 [14.0;70.0] a 22 [6.0;66.5] (p = 0.177). La TTR sérica se mantuvo o redujo a niveles indetectables en todos los pacientes. El NT-proBNP disminuyó de 464.0 a 345.0 pg/mL (p = 0.518). No hubo eventos adversos relevantes. Aunque no se alcanzó significancia estadística, el tratamiento permitió mantener o mejorar la calidad de vida y el estado clínico en vida real, población más pretratada y mayor carga de enfermedad que en ensayos clínicos. Sumado a su perfil de seguridad favorable, administración subcutánea sin premedicación y dosificación prolongada—preferidas por los pacientes—vutrisiran se perfila como una opción terapéutica prometedora. Se requieren estudios más a largo plazo para confirmar estos hallazgos.
Source: Farmacia Hospitalaria
Institution: Hospital Clínico San Carlos
Language: Spanish
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,640
OpenAlex ID: W7127570870