LENTICOL-F (2019)

Recessive dystrophic epidermolysis bullosa (RDEB) yana lalacewa ta hanyar lalacewa a cikin kwayar halitta mai suna COL7A1 wanda ke sarrafa samar da furotin - nau'in 7 collagen (C7) a cikin fata.

C7 wani muhimmin sunadari ne mai danko wanda yake mannewa waje da ciki na fata tare ta hanyar sifofi kamar ƙugiya da ake kira anchoring fibrils. A RDEB, rashin C7 yana haifar da blisters.

Samun damar mayar da C7 a cikin fata na RDEB ta hanyar maganin kwayoyin halitta zai haifar da ƙananan blisters da fata mai karfi.

Tawagar a Cibiyar St John's ta ɓullo da tsarin kula da kwayoyin halitta don ƙoƙarin mayar da C7 a cikin fata na RDEB. An gudanar da binciken dakin gwaje-gwaje don yin kwafin wucin gadi na kwayar halittar COL7A1 da kuma isar da sabon kwayar halittar cikin kwayoyin fata da ake kira fibroblasts.

Fibroblasts sune sel waɗanda galibi ana samun su a cikin Layer na fata. Suna iya yin collagens da sauran sunadaran da ke kiyaye lafiyar fata.

Da zarar masu binciken sun tabbatar da cewa za'a iya gyara ƙwayoyin fata don yin sabbin sunadaran C7, sun gudanar da bincike mai mahimmanci na aminci da aiki don samar da samfurin maganin kwayoyin halitta mai girma wanda za'a iya amfani dashi a cikin mutanen da ke da RDEB.

Bayan kammala wannan aikin, an kafa gwajin gwaji na LENTICOL-F (duba Hoto 1) don gwada ko wannan nau'i na maganin kwayoyin halitta yana da lafiya don amfani da mutane.

Mutane hudu tare da RDEB sun shiga cikin binciken kuma sun kammala bibiyar watanni 12.

Kowane ɗan takarar da ya shiga cikin binciken ya karɓi allurar 3 na fibroblasts na kansa waɗanda aka canza don haɗawa da sabon ƙwayar COL7A1.

An ba da alluran a cikin hannun hagu na sama kuma kowane yanki na allurar tantanin halitta yana auna 1 cm x 1 cm.

An shirya sassan a Cibiyar Kula da Lafiyar Yara kuma an kai su Asibitin Guy inda aka yi alluran.

Babban makasudin shine don ganin ko allurar tantanin halitta ba ta da lafiya don haka an bibiyi mahalarta a hankali har tsawon shekara guda.

Hoto 1: Matakan da ke cikin gwajin LENTICOL-F.

Fibroblasts ɗin da aka gyaggyarawa sun yi haƙuri da kyau ba tare da wani tasiri ba. Ba a gano halayen rigakafi ba game da maganin kwayoyin halitta da aka gudanar.

Game da inganci, an sami karuwar ~ 1.3-zuwa 26-sau da yawa a cikin samar da furotin na C7 a cikin fata mai allura idan aka kwatanta da fata maras allura a cikin 3 na mahalarta 4. Har yanzu ana kiyaye wannan tasirin a cikin watanni 12 a cikin mahalarta 2 na 4.

Kasancewar kwayar halittar COL7A1 da aka gyara a cikin fata da aka yi wa allurar a Watan 12 an rubuta shi a cikin jigo ɗaya ko da yake ba a gano wani sabon balagagge ba.

John McGrath MD FRCP FMedSci

John McGrath ya rike kujerar Mary Dunhill a likitancin cuta a St John's Institute of Dermatology, King's College London, kuma shi ne Shugaban Sashen St John's Institute of Dermatology da sashin cututtukan fata na kwayoyin halitta, da kuma mai ba da shawara ga likitan fata ga Guy's. da St Thomas' NHS Foundation Trust a London. Babban abubuwan da ya fi sha'awa shine a cikin kwayoyin halitta da kuma maganin farfadowa da kuma yadda waɗannan tasiri akan dermatology da cututtukan fata. Yana da hannu a cikin shirye-shiryen tsara tsararraki da yawa na gaba don inganta bincike don maganin genodermatoses kuma shine babban mai bincike don yawancin gwajin asibiti na farkon lokaci na ƙwayoyin cuta da ƙwayoyin jijiya ga marasa lafiya da cututtukan fata da aka gada.

"Wannan shine farkon binciken ɗan adam wanda ke nuna cewa ƙwayoyin fibroblasts na marasa lafiya da aka gyaggyarawa - sel mafi yawan fata waɗanda ke samar da furotin C7 da suka ɓace - suna da aminci kuma suna iya ɗaukar alƙawarin azaman ingantaccen magani ga mutane masu RDEB amma ana buƙatar ƙarin gwaji don ƙarin kimantawa misali na farko."

Dr Su Lwin

"Maganin kwayoyin halitta yana da babban alƙawari don inganta fata na mutanen da ke zaune tare da EB. Wannan gwaji na asibiti ya haifar da mahimman bayanan aminci kuma yana ba mu kwarin gwiwa don faɗaɗa aikin jiyyarmu don haɓaka ingantattun jiyya ga EB. ”

Farfesa John McGrath

Wannan shine binciken ɗan adam na farko na jiyya na fibroblast injectable wanda aka nuna yana da aminci kuma wanda zai iya sake dawo da furotin C7 da ya ɓace a cikin fata na mutane tare da RDEB.

Waɗannan binciken sun nuna cewa jiyya na fibroblast na iya ɗaukar alƙawari a matsayin ingantaccen magani ga RDEB kuma ya ba da hujja don gudanar da manyan gwaje-gwaje na asibiti don ƙarin kimantawa.

An buga sakamakon wannan binciken a cikin Journal of Clinical Investigation Insight: https://insight.jci.org/articles/view/126243