A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis

Table 1 Patient baseline demographics and disease characteristics

Characteristic	Total population (n = 27)
Age, years, median (range)	64 (29 to 77)
Sex, n
Male	18 (67%)
Female	9 (33%)
Genotype
Val30Met	20 (74%)
Other^a	7 (26%)
FAP stage
1	24 (89%)
2	3 (11%)
PND score
I	15 (56%)
II	9 (33%)
IIIa	2 (7%)
IIIb	1 (4%)
On TTR stabilizer at study entry
Tafamidis	13 (48%)
Diflunisal	7 (26%)
None	7 (26%)
mNIS+7 (max. impairment: 304)	53.0 (2.0 to 122.5)
NIS (max. impairment: 244)	34.8 (4.0 to 93.4)
mBMI, (kg/m² × g/L)	1030.5 (728.6 to 1379.6)
EQ-5D (max. impairment: 0)	0.8 (0.3 to 1.0)
Cardiac subgroup	11 (41%)
Val30Met/non-Val30Met^b, n	8/3
NT-proBNP (pg/mL)^c	809.8 (105.0 to 2070.0)
Troponin I (ng/mL)^d	0.14 (0.03 to 0.69)
LV wall thickness (cm)	1.6 (1.3 to 1.9)

Abbreviations: EQ-5D EuroQoL 5-dimensions questionnaire, FAP familial amyloid polyneuropathy, LV left ventricular, mBMI modified body mass index, mNIS+7 modified Neuropathy Impairment Score + 7, NIS Neuropathy Impairment Score, NT-proBNP N-terminal pro-brain natriuretic peptide, PND polyneuropathy disability, QOL quality of life, TTR transthyretin. All data are mean (range) or n (%), unless otherwise stated
^aNon-Val30Met mutations: Ser77Tyr (n = 2), Ser77Phe (n = 2), Tyr116Ser (n = 1), Phe64Leu (n = 1), Arg54Thr (n = 1)
^bNon-Val30Met mutations in cardiac subgroup: Arg54Thr (n = 1), Ser77Phe (n = 1), Ser77Tyr (n = 1)
^cNT-proBNP normal range is: ≤ 97 pg/mL (age 18–45); ≤ 121 pg/mL (age 45–55); ≤ 198 pg/mL (age 55–65); ≤ 285 pg/mL (age 65–75); ≤ 526 pg/mL (age ≥ 75)
^dTroponin I normal range is: < 0.03 ng/mL

ISSN: 1750-1172