{"id":840,"date":"2026-07-26T08:40:00","date_gmt":"2026-07-25T23:40:00","guid":{"rendered":"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-07-26-scn2a-personalized-aso-vi\/"},"modified":"2026-07-26T08:48:52","modified_gmt":"2026-07-25T23:48:52","slug":"2026-07-26-scn2a-personalized-aso-vi","status":"publish","type":"briefing","link":"https:\/\/onepress.co.kr\/index.php\/briefing\/2026-07-26-scn2a-personalized-aso-vi\/","title":{"rendered":"Hai li\u1ec7u ph\u00e1p l\u00e0m ri\u00eang cho hai b\u1ec7nh nh\u00e2n gi\u1ea3m c\u01a1n co gi\u1eadt 26% v\u00e0 90%"},"content":{"rendered":"

2026-07-26 08:40 KST<\/strong><\/p>\n

Hai tr\u1ebb m\u1eafc b\u1ec7nh n\u00e3o \u0111\u1ed9ng kinh ph\u00e1t tri\u1ec3n n\u1eb7ng li\u00ean quan SCN2A \u0111\u01b0\u1ee3c d\u00f9ng oligonucleotide \u0111\u1ed1i ngh\u0129a thi\u1ebft k\u1ebf ri\u00eang cho b\u1ea3n sao gene \u0111\u1ed9t bi\u1ebfn c\u1ee7a t\u1eebng em. T\u1ea7n su\u1ea5t co gi\u1eadt gi\u1ea3m 26% v\u00e0 90% trong hai n\u0103m.<\/p>\n

M\u1ed9t b\u1ec7nh nh\u00e2n l\u1ea7n \u0111\u1ea7u t\u1ef1 \u0111i \u1edf tu\u1ed5i 15, nh\u01b0ng b\u1eb1ng ch\u1ee9ng ch\u1ec9 \u0111\u1ebfn t\u1eeb hai nghi\u00ean c\u1ee9u n-of-1 kh\u00f4ng c\u00f3 nh\u00f3m \u0111\u1ed1i ch\u1ee9ng v\u00e0 kh\u00f4ng ch\u1ee9ng minh m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p ch\u1eefa kh\u1ecfi n\u00f3i chung.<\/p>\n

C\u00f9ng ch\u1ea9n \u0111o\u00e1n nh\u01b0ng thu\u1ed1c kh\u00e1c nhau<\/h2>\n

B\u1ec7nh SCN2A c\u00f3 th\u1ec3 x\u1ea3y ra khi \u0111\u1ed9t bi\u1ebfn \u1edf m\u1ed9t b\u1ea3n sao gene l\u00e0m k\u00eanh natri th\u1ea7n kinh b\u1ecb k\u00edch th\u00edch b\u1ea5t th\u01b0\u1eddng. M\u1ed7i ASO nh\u1eadn di\u1ec7n m\u1ed9t d\u1ea5u \u1ea5n v\u00f4 h\u1ea1i g\u1ea7n \u0111\u1ed9t bi\u1ebfn v\u00e0 gi\u1eef b\u1ea3n sao b\u00ecnh th\u01b0\u1eddng ho\u1ea1t \u0111\u1ed9ng.<\/p>\n

\u0110i\u1ec1u tr\u1ecb v\u00e0o d\u1ecbch n\u00e3o t\u1ee7y kh\u00f4ng ch\u1ec9nh s\u1eeda DNA v\u0129nh vi\u1ec5n. N\u00f3 l\u00e0m gi\u1ea3m s\u1ea3n xu\u1ea5t t\u1eeb b\u1ea3n sao \u0111\u1ed9t bi\u1ebfn n\u00ean ph\u1ea3i l\u1eb7p l\u1ea1i m\u1ed7i hai \u0111\u1ebfn ba th\u00e1ng.<\/p>\n

\u0110i\u1ec1u thay \u0111\u1ed5i trong hai nghi\u00ean c\u1ee9u n-of-1<\/h2>\n

B\u1ec7nh nh\u00e2n 9 v\u00e0 14 tu\u1ed5i khi b\u1eaft \u0111\u1ea7u. C\u01a1n co gi\u1eadt gi\u1ea3m 26% v\u00e0 90%, c\u1ea3 hai \u0111\u1ec1u gi\u1ea3m ho\u1eb7c ng\u1eebng m\u1ed9t s\u1ed1 thu\u1ed1c ch\u1ed1ng co gi\u1eadt.<\/p>\n

Nh\u00f3m nghi\u00ean c\u1ee9u c\u0169ng ghi nh\u1eadn c\u1ea3i thi\u1ec7n ng\u00f4n ng\u1eef, v\u1eadn \u0111\u1ed9ng, x\u1eed l\u00fd c\u1ea3m gi\u00e1c v\u00e0 h\u00e0nh vi th\u00edch \u1ee9ng. Kh\u00f4ng c\u00f3 bi\u1ebfn c\u1ed1 nghi\u00eam tr\u1ecdng li\u00ean quan ASO \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o.<\/p>\n

\"H\u00ecnh
H\u00ecnh do ONEPRESS t\u1ea1o \u0111\u1ec3 gi\u1ea3i th\u00edch ASO c\u00e1 nh\u00e2n h\u00f3a l\u00e0m gi\u1ea3m ch\u1ecdn l\u1ecdc bi\u1ec3u hi\u1ec7n c\u1ee7a b\u1ea3n sao gene \u0111\u1ed9t bi\u1ebfn. \u0110\u00e2y kh\u00f4ng ph\u1ea3i b\u1ec7nh nh\u00e2n hay c\u1ea3nh \u0111i\u1ec1u tr\u1ecb th\u1eadt.<\/figcaption><\/figure>\n

Ph\u00e1t tri\u1ec3n thu\u1ed1c b\u1ec7nh hi\u1ebfm thu h\u1eb9p t\u1edbi t\u1eebng ng\u01b0\u1eddi<\/h2>\n

Thay v\u00ec m\u1ed9t thu\u1ed1c cho to\u00e0n b\u1ed9 ch\u1ea9n \u0111o\u00e1n, m\u00f4 h\u00ecnh n\u00e0y thi\u1ebft k\u1ebf v\u00e0 th\u1eed s\u1ea3n ph\u1ea9m quanh b\u1ed9 gene c\u1ee7a m\u1ed9t ng\u01b0\u1eddi. N\u00f3 c\u00f3 th\u1ec3 m\u1edf \u0111\u01b0\u1eddng cho c\u00e1c \u0111\u1ed9t bi\u1ebfn qu\u00e1 hi\u1ebfm \u0111\u1ec3 l\u00e0m th\u1eed nghi\u1ec7m l\u1edbn.<\/p>\n

M\u1ed9t nh\u00f3m tr\u1ebb s\u01a1 sinh kh\u00e1c cho th\u1ea5y kho\u1ea3ng 16% c\u00f3 d\u1ea5u \u1ea5n g\u1ea7n ph\u00f9 h\u1ee3p v\u1edbi chi\u1ebfn l\u01b0\u1ee3c n\u00e0y. \u0110\u00f3 l\u00e0 kh\u1ea3 n\u0103ng m\u1edf r\u1ed9ng, kh\u00f4ng ph\u1ea3i b\u1eb1ng ch\u1ee9ng \u00e1p d\u1ee5ng \u0111\u01b0\u1ee3c cho m\u1ecdi b\u1ec7nh nh\u00e2n SCN2A.<\/p>\n

V\u00ec sao ch\u01b0a th\u1ec3 kh\u00e1i qu\u00e1t<\/h2>\n

M\u1ed7i tr\u1ebb \u0111\u01b0\u1ee3c so v\u1edbi ch\u00ednh m\u00ecnh tr\u01b0\u1edbc \u0111i\u1ec1u tr\u1ecb, kh\u00f4ng ng\u1eabu nhi\u00ean v\u00e0 kh\u00f4ng \u0111\u1ed1i ch\u1ee9ng. Kh\u00f4ng th\u1ec3 t\u00e1ch ho\u00e0n to\u00e0n thay \u0111\u1ed5i ph\u00e1t tri\u1ec3n kh\u1ecfi gi\u1ea3m co gi\u1eadt, \u0111i\u1ec1u ch\u1ec9nh thu\u1ed1c v\u00e0 t\u0103ng tr\u01b0\u1edfng; an to\u00e0n d\u00e0i h\u1ea1n v\u1eabn c\u1ea7n theo d\u00f5i.<\/p>\n

Nghi\u00ean c\u1ee9u cho th\u1ea5y \u0111i\u1ec1u tr\u1ecb c\u00e1 nh\u00e2n h\u00f3a c\u00f3 th\u1ec3 t\u1ea1o thay \u0111\u1ed5i \u0111o \u0111\u01b0\u1ee3c, nh\u01b0ng ch\u01b0a thi\u1ebft l\u1eadp li\u1ec7u ph\u00e1p chu\u1ea9n ph\u1ed5 bi\u1ebfn.<\/p>\n

\u0110i\u1ec1u c\u1ea7n theo d\u00f5i<\/h2>\n

C\u1ea7n x\u00e1c nh\u1eadn l\u1ee3i \u00edch c\u00f3 duy tr\u00ec kh\u00f4ng, d\u00f9ng thu\u1ed1c n\u1ed9i t\u1ee7y l\u1eb7p l\u1ea1i c\u00f3 an to\u00e0n l\u00e2u d\u00e0i kh\u00f4ng v\u00e0 ph\u01b0\u01a1ng ph\u00e1p thi\u1ebft k\u1ebf n\u00e0y c\u00f3 th\u1ec3 m\u1edf r\u1ed9ng nhanh t\u1edbi c\u00e1c b\u1ec7nh di truy\u1ec1n kh\u00e1c \u0111\u1ebfn \u0111\u00e2u.<\/p>\n

Ngu\u1ed3n s\u01a1 c\u1ea5p ch\u00ednh th\u1ee9c<\/h2>\n

Nature Medicine \/ PubMed original study<\/a><\/p>\n

Rady Children’s Institute for Genomic Medicine study release<\/a><\/p>\n

ClinicalTrials.gov NCT06314490<\/a><\/p>\n

California Institute for Regenerative Medicine trial record<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Hai tr\u1ebb m\u1eafc b\u1ec7nh n\u00e3o \u0111\u1ed9ng kinh ph\u00e1t tri\u1ec3n n\u1eb7ng li\u00ean quan SCN2A \u0111\u01b0\u1ee3c d\u00f9ng ASO thi\u1ebft k\u1ebf ri\u00eang cho b\u1ea3n sao gene \u0111\u1ed9t bi\u1ebfn. T\u1ea7n su\u1ea5t co gi\u1eadt gi\u1ea3m 26% v\u00e0 90% trong hai n\u0103m, nh\u01b0ng \u0111\u00e2y ch\u1ec9 l\u00e0 hai nghi\u00ean c\u1ee9u n-of-1 kh\u00f4ng \u0111\u1ed1i ch\u1ee9ng.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":[],"class_list":["post-840","briefing","type-briefing","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/briefing\/840","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/briefing"}],"about":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/types\/briefing"}],"wp:attachment":[{"href":"https:\/\/onepress.co.kr\/index.php\/wp-json\/wp\/v2\/media?parent=840"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}