Author(s)
Denoncourt RN1, Adams D2, Gonzalez-Duarte A3, O'Riordan W4, Yang C5, Yamashita T6, Kristen A7, Tournev I8, Schmidt H9, Coelho T10, Berk J11, Lin K12, Chen J1, Gollob J1, Suhr O13
1Alnylam Pharmaceuticals, Cambridge, MA, USA, 2National Reference Center for FAP (NNERF)/ APHP/ INSERM U 1195/ CHU Bicêtre, Le Kremlin-Bicêtre, France, 3National Institute of Medical Science and Nutrition Salvador Zubirán, Mexico City, Mexico, 4eStudySite, La Mesa, CA, USA, 5National Taiwan University Hospital, Taipei, Taiwan, Taipei, Taiwan, 6Kumamoto University Hospital, Kumamoto, Japan, 7Heidelberg University, Heidelberg, Germany, 8University Multiprofile Hospital for Active Treatment, Sofia, Bulgaria, 9Universitätsklinikum Münster, Münster, Germany, 10Unidade Clinica de Paramiloidose, Hospital de Santo Antonio, Porto, Portugal, 11Boston University Medical Center, Boston, MA, USA, 12Taipei Veterans General Hospital, Taipei, Taiwan, 13Umeå University, Umeå, Sweden
OBJECTIVES: Hereditary ATTR amyloidosis with polyneuropathy (hATTR-PN), also known as familial amyloidotic polyneuropathy (FAP), is an inherited, progressive disease leading to death within 5-15 years. hATTR-PN is due to a mutation in the transthyretin (TTR) gene. Patisiran is an investigational, RNA interference (RNAi) therapeutic targeting TTR. This abstract aims to further characterize hATTR-PN burden of illness.
METHODS: The ongoing, patisiran Phase 3 APOLLO trial was utilized to collect patient-reported EQ-5D, Norfolk-DN, Rasch-built Overall Disability Scale (R-ODS), and healthcare resource utilization from hATTR-PN patients with symptomatic disease.
RESULTS: APOLLO included 225 patients; median age of 62 years (range: 24-82), median neurological impairment score (NIS) of 6-141.6 and representative of the global patient population (19 countries) with a broad range of mutations and disease severities. At baseline, 57 patients had a Polyneuropathy Disability (PND) Score I and 168 patients had a PND Score ≥ II. By FAP Stage, 104 were FAP Stage 1 and 121 were FAP Stage 2. 41 patients (PND Score ≥ II) reported ≥1 hospitalization of ≥3 nights in duration due to hATTR-PN in the 12 months prior to enrollment. Mean EQ-5D scores were 0.76 (PND Score I) and 0.59 (PND Score ≥ II). Patients reported perceived health status on the EQ-VAS with mean scores of 66.9 (PND Score I) and 51.3 (PND Score ≥ II). Mean Norfolk-QoL-DN scores were 35.5 (PND Score I) and 66.0 (PND Score ≥ II). 145 patients (131 PND Score ≥ II) reported they cannot work because of hATTR-PN. Mean R-ODS scores were 40.9 and 25.9 for PND Score I and PND Score ≥ II, respectively.
CONCLUSIONS: These data, from the largest controlled study of patients with hATTR-PN to date, further demonstrate that patients experience considerable burden of illness early in the course of disease and this burden increases with disease progression.
Conference/Value in Health Info
2016-10, ISPOR Europe 2016, Vienna, Austria
Value in Health, Vol. 19, No. 7 (November 2016)
Code
PND63
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Neurological Disorders, Rare and Orphan Diseases
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