1. 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

2. 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

3. 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

4. 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

5. 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

6. 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

7. 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

8. 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

10. 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

11. 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

12. 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

13. 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

14. 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