Manaʻolana hou no Duchenne Muscular Dystrophy (DMD): E aʻo kākou e pili ana i ka mālama ʻana i ka gene Elevidys ma nā ʻōlelo maʻalahi

Pehea kou kaumaha ma ke ʻano he makuahine a makua paha i ka wā e pilikia ai kāu keiki liʻiliʻi i ka holo ʻana, ka lele ʻana, ka piʻi ʻana i nā alapiʻi, a i ʻole ke ala ʻana mai kahi noho ʻana? ʻO Duchenne Muscular Dystrophy (DMD) kahi maʻi genetic e hoʻonāwaliwali mālie i nā ʻiʻo a pili nui i nā keikikāne. ʻOiai ʻaʻohe lāʻau lapaʻau mau loa no kēia, ua hoʻolauna ʻia nā lāʻau lapaʻau hou i ka honua e kāohi i ka maʻi a hoʻomaʻalahi i ke ola o ke keiki. I kēia lā, e kamaʻilio mākou e pili ana i ka lāʻau lapaʻau gene i kapa ʻia ʻo Elevidys, ka mea i lawe mai i ka manaʻolana hou.

Pehea e hana maoli ai kēia lāʻau lapaʻau i kapa ʻia ʻo Elevidys?

I mea e hoʻomaopopo ai i kēia, e nānā mua kākou pehea e ulu ai ʻo DMD. E noʻonoʻo i nā ʻiʻo i loko o ko kākou kino e like me kahi hale ikaika. I mea e ikaika ai kēia hale a ʻaʻole e hiolo, pono mākou i kahi protein kūikawā i kapa ʻia ʻo 'dystrophin'. Ua like ia me ka sima e hoʻopaʻa ana i nā piliki i loko o kahi hale.

I nā keiki me DMD, ma muli o kahi hoʻololi genetic, ʻaʻole i hana pono ʻia kēia 'sima' i kapa ʻia ʻo dystrophin. ʻO kēia ke kumu o nā poloka kūkulu i kapa ʻia ʻo nā ʻiʻo e nāwaliwali mālie a hāʻule. ʻO ka mea mua, hoʻomaka nā ʻiʻo ma nā wāwae a me nā pūhaka e nāwaliwali. ʻO kēia ka mea e paʻakikī ai ke holo, lele, a piʻi i nā alapiʻi. I ka hala ʻana o ka manawa, hiki i kēia nāwaliwali ke hoʻopilikia i nā lima, ka puʻuwai, a me nā māmā.

Kōkua kēia i ke kino o ke keiki e hana i kahi ʻano pōkole, akā ʻoi aku ka hana, o ka protein dystrophin. Manaʻolana nā kauka e hoʻolohi kēia 'sima hou' i ka wikiwiki o ka nāwaliwali o nā ʻiʻo.

Pehea e hāʻawi ʻia ai kēia lāʻau lapaʻau?

ʻAʻole kēia he pila i kēlā me kēia lā. He lāʻau lapaʻau hoʻokahi wale nō ʻo Elevidys i ke ola.

Hāʻawi ʻia kēia ma ke ʻano he infusion, e like me ka saline, i loko o kahi vein. Akā, ʻaʻole hiki ke hana ʻia kēia ma ka home. Hāʻawi ʻia ia ma ka haukapila, ma lalo o ka nānā piha ʻana o nā kauka . No ka mea, pono e nānā pono ʻia ke keiki no kekahi mau hola i ka wā e hāʻawi ʻia ai ka lāʻau lapaʻau.

Ma mua o ka mālama ʻana, hoʻomaka ʻia kahi lāʻau steroid ʻano corticosteroid e hōʻemi i ka pilikia o nā hopena ʻaoʻao. E hōʻoia pū ke kauka ua hoʻopau ke keiki i kāna mau lāʻau pale āpau.

He aha nā hopena o ka noiʻi?

Ua hana ʻia kekahi mau noiʻi e pili ana i ka pono a me ka palekana o kēia lāʻau. Ua aʻo kēia mau noiʻi i nā ʻokoʻa ma waena o nā keiki i hāʻawi ʻia iā Elevidys a me ka poʻe i hāʻawi ʻole ʻia (hui placebo). No laila, eia kekahi o nā pono nui i loaʻa.

Akā e hoʻomanaʻo i kēia. ʻAʻole e loaʻa i nā keiki āpau nā hopena like. Pono ʻoe a me kāu kauka e kūkākūkā i nā hopena e hoʻoholo ai i ka holomua o ka lāʻau lapaʻau.

Aia kekahi mau hihia i ʻole e hāʻawi ʻia ai kēia lāʻau?

ʻAe, ʻoiaʻiʻo nō. ʻAʻole hiki ke hāʻawi ʻia kēia lāʻau lapaʻau i nā keiki āpau me DMD. Aia kekahi mau hihia kūikawā kahi i ʻole e hāʻawi ʻia ai ka lāʻau Elevidys.

• Nā kīnā hoʻoilina kikoʻī: ʻAʻole hāʻawi ʻia kēia lāʻau i nā keiki me kekahi mau kīnā kikoʻī i loko o ka gene e hoʻoulu ai i ka DMD (no ka laʻana , nā holoi ʻana i ka exon 8 a i ʻole exon 9 ). Hiki ke ʻike ʻia kēia ma o ka hoʻāʻo ʻana i ka genetic ma mua o ka lāʻau.
• Hoʻonui ʻia nā pae antibody:ʻAʻole pono e hāʻawi ʻia ʻo Elevidys i nā keiki nona ka pae kiʻekiʻe o nā antibodies e kūʻē i ka maʻi (AAVrh74 vector) e lawe ana iā ia. ʻO kēia no ka mea hiki i kēlā mau antibodies ke pale i ka lāʻau lapaʻau mai ka hiki ʻana i nā ʻiʻo a hiki ke hana i nā hopena ʻaoʻao koʻikoʻi. Hiki ke ʻike mua ʻia kēia me kahi hoʻāʻo koko.
• Ka Maʻi ʻAna: Inā loaʻa i ke keiki kekahi maʻi e like me ke kuni, ke anu, ke kuni, a i ʻole ka ʻeha ʻōpū i ka wā e hoʻomaka ai ka lāʻau lapaʻau, ʻaʻole e hoʻomaka ka lāʻau lapaʻau a hiki i ka ho'ōla piha ʻia ʻana.

Nā hopena ʻaoʻao a pehea e mālama ai iā lākou?

E like me nā lāʻau lapaʻau a pau, hiki iā Elevidys ke hana i nā hopena ʻaoʻao. ʻO nā hopena ʻaoʻao maʻamau ka nausea a me ka luaʻi . Loaʻa pinepine kēia i nā pule mua. Inā loaʻa i kāu keiki kekahi o kēia mau hōʻailona, ​​e haʻi i kāu kauka. E hāʻawi lākou iā ʻoe i ka lāʻau lapaʻau e kōkua i ka luaʻi ʻana. He mea nui hoʻi e inu i ka nui o nā wai e pale aku ai i ka maloʻo ʻana o ka wai.

Eia kekahi, he mea maikaʻi ke ʻike i nā hopena ʻaoʻao ʻē aʻe a me kā lākou mau hōʻailona.

He aha nā hoʻokolohua e hana ʻia ma mua a ma hope o ka mālama ʻana?

ʻAe, no ka mea he lāʻau paʻakikī kēia, ua hana ʻia kekahi mau hoʻokolohua e hoʻomaopopo maikaʻi i ke kūlana olakino o ke keiki.

• Nā hoʻāʻo Gene: E hōʻoia inā loaʻa i ke keiki ka DMD ponoʻī a inā he mau kīnā genetic e hoʻolilo ai iā Elevidys i kūpono ʻole.
• Nā hoʻāʻo antibody: E nānā i ka pae o nā antibodies e kūʻē i ka maʻi AAVrh74 a mākou i kamaʻilio ai ma mua.
• Helu koko piha (CBC): E nānā no nā maʻi a i ʻole nā ​​​​​​ʻano koko ʻē aʻe.
• Nā hoʻāʻo hana ate (LFT): E nānā i ke olakino o ke akepaʻa ma mua a ma hope o ka mālama ʻana.
• Ola kino o ka puʻuwai (hoʻāʻo Troponin): E ʻike inā ua hoʻopilikia ʻia ka puʻuwai.
• Nā pae platelet koko: E nānā no ka emi ʻana o nā pae platelet koko ma hope o ka lāʻau lapaʻau.

Hana ʻia kēia mau hoʻokolohua a pau no ka hōʻoia ʻana i ka palekana o ke keiki i ka hiki piha loa.