Márcia Waddington Cruz, Y Sekijima, R Mundayat The Demographic, Genetic and Clinical Characteristics of Asian Subjects Enrolled in the THAOS Márcia Waddington Cruz, Y Sekijima, R Mundayat
Objective To describe the genotypic and phenotypic characteristics of Asian patients with ATTR enrolled in the THAOS registry Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
Methods Subjects came from THAOS-participating Asian countries (Japan, South Korea and Taiwan) Subjects were classified according to cardiac, neurologic or mixed disease phenotypes Subjects were classified according to symptom onset as early (>50 y/o) or late (≥50 y/o) onset Disease stage (mPND) was evaluated for all 3 Asian countries combined The cut-off date for the analysis was January 30, 2017 Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
132 THAOS subjects were in Asian countries Overall, 3231 subjects (56.8% were male) from 20 countries were enrolled in THAOS as of the cut-off date, of which 132 subjects were in Asian countries Gender, n (%) Japan n = 116 South Korea n = 15 Taiwan n = 1 Overall N = 132 Male 65 (56) 12 (80) 0 (0) 77 (58.3) Female 51 (44) 3 (20) 1 (100) 55 (41.7) Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In Japan, 94% of all subjects had ATTRm, most of which had a Val30Met mutation Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In Japan, Val30Met was the most prevalent mutation both in early- and late-onset ATTR Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In Japan, Val30Met was the most common mutation both in males and females, in early- or late-onset disease Genotype, n (%) Males Females Early onset (n = 26) Late onset (n = 39) All male (n = 65) (n = 33) (n = 16) All female (n = 51) Wild-type 1 (3.8) 4 (10.3) 5 (7.7) 0 (0) 2 (12.5) 2 (3.9) TTR mutation 25 (96.2) 35 (89.7) 60 (92.3) 33 (100) 14 (87.5) 49 (96.1) TTR genotype Val30Met Ser50Arg Tyr114Cys Asp38Ala Thr60Ala Ile107Val His88Arg Thr49Ile Glu42Gly Thr59Arg Ser50Ile 22 (88) 1 (4) 28 (80) 1 (2.9) 50 (83.3) 2 (3.3) 1 (1.7) 31 (93.9) 2 (6.1) 13 (92.9) 1 (7.1) 45 (91.8) 2 (4.1) 1 (2) Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In Japan, the most common phenotype was neurologic, both in males and females, in early- and late-onset subjects Phenotype/ Genotype, n (%) Males Females Early onset n = 26 Late onset n = 39 All male n = 65 n = 33 n = 16 All female n = 51 Neurologic 21 (80.6) 16 (41) 37 (56.9) 19 (57.6) 8 (50) 27 (52.9) Wild-type 1 (4.8) 0 (0) 1 (2.7) TTR mutation 20 (95.2) 16 (100) 36 (97.3) 19 (100) 8 (100) 27 (100) TTR genotype Val30Met Tyr114Cys Ile107Val Thr49Ile 19 (95) 1 (5) 14 (87.5) 1 (6.3) 33 (91.7) 1 (2.8) 17 (89.5) 2 (10.5) 25 (92.6) 2 (7.4) Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In South Korea, 86.7% of subjects had ATTRm, and Asp58Ala was the most prevalent mutation Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In South Korea, Asp58Ala was the most prevalent mutation both in males and females Genotype, n (%) Males (n = 12) Females (n = 3) Wild-type 2 (16.7) 0 (0) TTR mutation 10 (83.3) 3 (100) TTR genotype Asp58Ala Glu109Lys Asp38Ala Ala56Pro Lys55Asn Lys35Asn 5 (50) 2 (20) 1 (10) 2 (66.7) 1 (33.3) Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In South Korea, mixed phenotype was the most common both in males and females Phenotype/genotype, n (%) Males (n = 12) Females (n = 3) Mixed 5 (41.7) 2 (66.7) Wild-type 0 (0) TTR mutation 5 (100) 2 (100) TTR genotype Asp58Ala Asp38Ala Glu109Lys 3 (60) 1 (20) Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
In Japan, a neurologic phenotype was more common; whereas in South Korea a mixed phenotype was more common Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan
Conclusions The most prevalent genotype was Val30Met in Japan and Asp58Ala in South Korea The most prevalent phenotype was neurologic in Japan and mixed in South Korea The single subject in Taiwan was female with neurologic phenotype Awareness for the difference in phenotype and genotype between countries may help with diagnosis and management of ATTR Waddington-Cruz, Poster P246 presented at the XXIII World Congress of Neurology (WCN), September 17–21, 2017, Kyoto, Japan