PEBLES RDEB kafukufuku wazizindikiro (2022)

Kafukufuku wa PEBLES adalemba anthu 65 (ana 16 ndi akulu 49) omwe ali ndi mitundu ingapo ya RDEB kuyambira 2014 ndipo adawunikiranso zopitilira 360 zazizindikiro ndi zomwe adakumana nazo.

Munthawi yonse yamakalata ophunzirira adasindikizidwa, yomwe nyuzipepala ya Disembala 2022 ikupezeka kuti muwerenge tsopano.

Mu 2023 ofufuza adasindikiza zomwe apeza pantchito yawo mu pepala lofufuza za itch mu RDEB. Werengani nkhani yokhudza zomwe zafalitsidwa kwa anthu wamba pano. Mu 2024, ofufuza adasindikizanso, kufotokoza za mtengo wa chisamaliro cha anthu aku UK kwa anthu okhala ndi RDEBndipo Zotsatira za ululu mu RDEB kwa sayansi ndi ambiri omvera kutengera zomwe zasonkhanitsidwa mu polojekiti ya PEBLES.

"Gulu la PEBLES likufuna kunena zikomo kwambiri kwa DEBRA UK chifukwa chopereka ndalama zophunzirira kuyambira 2014-2022!"

Anthu 53 omwe ali ndi RDEB akuchita nawo kafukufuku wa PEBLES.

Mu 2019, madera ofufuza adalembedwa motere:

Zosintha za 2017 - PEBLES: tili kuti tsopano?

Odwala ovomerezeka 55: ana 11 ndi akuluakulu 44. 2 yachotsedwa, 1 idatayika kuti itsatire
52 anamaliza deta ya 1st kuwunika
46 adamaliza kuwunika kwachiwiri
23 adamaliza kuwunika kwachitatu
5 adamaliza kuwunika kwachinayi
3 adamaliza kuwunika kwachinayi
1 adamaliza kuwunika kwachinayi

Mu 2015, zikwangwani ziwiri zidaperekedwa ku British Association of Dermatology mwachidule zotsatira mpaka pano:

PEBLES chithunzi BAD 2015

Ndemanga ya Zolemba BAD 2015

Wofufuza wamkulu: Prof Jemima Mellerio ndi Consultant Dermatologist komanso pulofesa ku St John's Institute of Dermatology, Guy's ndi St Thomas' NHS Foundation Trust. Ali ndi zaka zoposa 20 akugwira ntchito zachipatala m'munda wa EB ndi matenda ena a khungu lachibadwa, komanso kafukufuku wofufuza momwe maselo amitundu yosiyanasiyana a EB amakhalira, komanso mayesero azachipatala kukhala mankhwala atsopano a EB monga fibroblast ndi mesenchymal stromal cell. chithandizo. Amadzipereka kupitiliza ntchitoyi kuti apange chithandizo chamankhwala chamitundu yonse ya EB.

Ofufuza nawo: Dr Anna Martinez, Ms Elizabeth Pillay ndi Ms Eunice Jeffs.

“Tayamba poyang’ana zinthu zomwe zili zofunika kwambiri kwa anthu omwe ali ndi EB, monga ululu, kuyabwa komanso moyo wabwino. Izi zikuwonetsa kuti RDEB imakhudza kwambiri moyo wa anthu watsiku ndi tsiku pamitundu yonse ya matenda komanso mibadwo yonse. Tayambanso kufufuza mtengo wosamalira EB kupyolera mu kusanthula mwatsatanetsatane mtengo wa zovala ndi zovala zosungira, komanso mtengo wa chisamaliro cholipidwa. Zambirizi zikuwonetsa kukhudzika kwakukulu kwachuma kwa RDEB ndipo, tikuyembekeza, kutsindika kufunikira kwachuma kuti tipeze machiritso abwinoko ndi machiritso a EB. ndife othokoza kwambiri kwa onse amene avomera kutenga nawo mbali pa kafukufukuyu.”

Prof Jemima Mellerio

Mutu Wopereka: Mbiri Yachilengedwe ndi Zachipatala Zomaliza Maphunziro mu Epidermolysis Bullosa.
PEBLES: Oyembekezera Epidermolysis Bullosa Longitudinal Evaluation Study.

Phunziroli linaperekedwa ndalama poyamba mu 2013 kuti athandize kuzindikira ndi kufotokozera mapeto oyenerera omwe angakhale zotsatira za mayesero a zachipatala. Kuwunikiridwa mwadongosolo kudachitika koyambirira pa kafukufuku wofalitsidwa kuti adziwe zomwe zachitikapo za mbiri yakale ya RDEB. Izi zidawonetsa kuti pakufunika kuti pakhale kafukufuku woyembekezeredwa wanthawi yayitali womwe umaphatikizapo kuwunika kwa labotale, zachipatala, moyo wabwino komanso magawo azachuma komanso kumvetsetsa momwe matenda akupitira patsogolo.

Gawo lachiwiri la polojekitiyi linali kupanga mafunso opangidwa ndi makompyuta kuti atenge deta kuchokera kwa odwala EB, mabanja ndi osamalira. Deta yomwe inagwidwa ikuphatikizapo tsatanetsatane wa chiwerengero cha anthu, mbiri ya banja, chiwerengero cha matuza, kuyabwa, zowawa ndi ma laboratory monga DEXA scans (miyezo ya fupa la mafupa), kuyesa magazi ndi echocardiograms (kusanthula mtima) - piritsi ikhoza kutenga zinthu za 2,000 pa wodwala. Chidziwitsochi sichidziwika ndipo chimayikidwa pa seva yotetezeka yomwe imatha kuyesedwa ndikufanizidwa. Deta mpaka pano yasonyezedwa kuti ndi yolimba ndipo yapereka ndondomeko yothandizira mapu a mbiri yakale ya matendawa, pamodzi ndi mfundo zothandiza pa mitundu ndi mtengo wa zovala mwachitsanzo.

November 2019:

Zotsatira za kafukufukuyu zomwe zaperekedwa apa zikuphatikiza anthu 53 omwe ali ndi mitundu inayi ya RDEB (akuluakulu 4 ndi ana 41):

• Akuluakulu 14 ndi ana 11 ali ndi RDEB-generalised serious (RDEB-GS).
• Akuluakulu 18 ndi mwana mmodzi ali ndi RDEB-generalised intermediate (RDEB-GI).
• Akuluakulu a 8 ali ndi RDEB-inversa (RDEB-INV).
• Mmodzi wamkulu ali ndi pruriginosa (DEB-PR).

Kusintha uku kumayang'ana kwambiri zomwe zapezeka zokhudzana ndi kuyabwa, kuwawa, moyo wabwino, komanso mtengo wamavalidwe ndi chisamaliro chogwirizana.

Ululu ndi EB

Pakalipano, otenga nawo mbali akuti akuvutika ndi ululu womwe umakhudza kugona kwa 1 - 7 usiku. Ululu wammbuyo wayesedwa komanso milingo yowawa yolembedwa pakusintha kwavalidwe, kutsimikizira kuti kusintha kwa mavalidwe kumawonjezera ululu.
Zotsatira za EB pa Ubwino wa Moyo (QOL)
Omwe ali ndi RDEB-GS adanenanso za QOL yoyipa kwambiri ndipo mpaka pano anena kuti ali ndi vuto lalikulu ndi zinthu monga kusamba, kusamba, kugula zinthu komanso kuyenda kunja kwa nyumba, mosiyana ndi ma subtypes ena omwe adakumana ndi zovuta zochepa. Magulu onse adanenanso kufunikira kopewa masewera ena, ngakhale omwe ali ndi RDEB-GS amatha kupewa masewera onse.
Ana ndi makolo awo, monga akuluakulu, adanena kuti EB ikhudzidwa kwambiri ndi thanzi lakuthupi komanso kuchepa kwa thanzi la maganizo, kuphatikizapo maganizo, chikhalidwe ndi maphunziro okhudzana ndi sukulu ngakhale kuti izi zinali zofunikabe. Makolo adanenanso za kukhudza kwakukulu kwa EB paubwino wa moyo kuposa momwe ana awo adachitira, ndikuwunikira momwe banja limakhudzira.

Itch ndi EB

Ophunzira omwe ali ndi RDEB-GS adanenanso kuchuluka kwa kuyabwa, komanso kuuma komanso kupsinjika kwazizindikiro zawo, koma nthawi yayitali kwambiri ya kuyabwa. Ma subtypes onse a RDEB adanenanso za zovuta za zotupa komanso zovuta kugona chifukwa cha kuyabwa. Zotsatira za kuyabwa pakusokonekera kwa machitidwe, kusowa kwa njala, kusintha kwamakhalidwe kwa ena komanso kutayika kwa chidwi kunanenedwanso ndi omwe anali ndi RDEB-GS, kachiwiri koyipa kwambiri poyerekeza ndi ma subtypes ena.
Zinali zoonekeratu kuchokera ku ndemanga zowonjezera zomwe zimaperekedwa kuti ambiri amakhumudwa chifukwa chosowa chithandizo chamankhwala chothandizira kuyabwa ndipo akufuna kuti mankhwala atsopano apangidwe.

Zovala / chisamaliro mtengo wa EB

Kwa odwala 53 omwe alembedwa ntchito, mtengo wapachaka wa chithandizo cha mavalidwe ndi pafupifupi £3million: izi zikuphatikizapo osachepera £ 2,431,844 kuti athandizidwe ndi zovala, mabandeji a tubular ndi zovala zosungira, ndi ndalama zopitirira £ 377,650 zolipira anthu 13 (10). omwe anali ndi RDEB-GS). Kuphatikiza apo, osamalira osalipidwa a 18 sanathe kufunafuna ntchito chifukwa cha "maudindo" awo a EB ngakhale kuti mtengo wa izi sunawerengedwe.
Ambiri omwe adatenga nawo mbali (71%) adasintha mavalidwe awo nthawi imodzi, ndikusintha kwanthawi yayitali kuyambira mphindi 39 patsiku kwa RDEB-GI mpaka mphindi 105 patsiku kwa RDEB-GS.

Chotsatira chiti?

Gulu lofufuza likukonzekera kuyang'ana momwe kuyabwa, ubwino wa moyo ndi mtengo wa chithandizo umasintha pazaka 2-4 poyerekezera deta kuchokera kwa omwe ali ndi ndemanga zinayi kapena zambiri. Pamene akusonkhanitsa zambiri kuchokera kwa wophunzira aliyense, azitha kuyang'ana kusintha kwa nthawi yaitali.
Kenako adzayang'ana mbali zina za deta yomwe adasonkhanitsa kale, mwachitsanzo, kuzindikira zizindikiro zoopsa kwambiri, ndalama zowonjezereka komanso zowonjezereka zothandizira EB, komanso zotsatira za kusamalira EB pa miyoyo ya otenga nawo mbali ndi mabanja awo.
Gululi likukonzekeranso kulemba odwala ambiri, makamaka ana ochulukirapo. Adzasanthula deta nthawi zonse, ndikuwongolera pang'onopang'ono nkhani zambiri ndikusanthula zomwe zimapereka chidziwitso chofunikira pamagawo ambiri.
Gulu lofufuza limapereka zotsatirazi kwa akatswiri ena azachipatala pamsonkhano wapadziko lonse wa 2020 EB ku London ndipo akukonzekera kupereka ndi kufalitsa deta kuti ifalitse kwambiri.

Kuwonjezeka kwa polojekitiyi kudzathandiza:

1. Ndemanga zopitilira 6 pamwezi ndi 12 za omwe adatenga nawo gawo, 52 (95%) mwa omwe adatsalirabe mu phunziroli.
2. Kupitiliza kulembera odwala owonjezera kuchokera ku London centers, ndi cholinga cholembera ana, kuti adziwe zambiri za kuyambika kwa EB.
3. Kusanthula kosalekeza kwa deta yomwe ilipo, kukulitsa magawo ndikuphatikizapo deta kuchokera ku ndemanga zomwe zilipo ndi zowonjezera.
4. Kufalitsidwa kwa zomwe zapezedwa m'manyuzipepala / m'mabuku ndi pamisonkhano - makamaka zowawa ndi zowawa kuchokera ku database ya PEBLES popeza izi ndi zizindikiro zofunika kwa odwala.
5. Kufalitsidwa kwa njira ya PEBLES kotero maphunziro ofanana a mitundu ina ya EB ndi zochitika zina zomwe zingatheke zimatha kutsata ndondomekoyi ndi maphunziro ofunikira kuchokera ku ntchitoyi.
6. Kukhulupirika kwa deta pogula chithandizo cha kasamalidwe ka deta kuti zitsimikizire kuti deta ilibe zolakwika musanawerengerenso.
7. Kupanga gulu lowongolera kuti lithandizire kuyika patsogolo deta kuti iwunike. Deta yochulukayi idzatenga zaka 2 kuti ifufuze, choncho kuika patsogolo ndikofunikira (kuyembekezeredwa kukhala moyo wabwino, mtengo wa zovala, chisamaliro cholipidwa ndi zakudya).
8. Kuwunika kuthekera kokulitsa PEBLES ku malo apadera a EB m'malo ena ndi mayiko ena

Powombetsa mkota

PEBLES ipereka zambiri za RDEB kuposa zomwe zidasonkhanitsidwa kale. Zidzathandiza kupanga chithunzi chokwanira cha mbali zonse za odwala odziwika bwino a RDEB omwe adzapitirirenso kumalo ena komanso pakapita nthawi, mitundu ina ya EB.
Pamapeto pake, pulojekitiyi idzathandiza kupitiriza kuzindikira mapeto omveka omwe adzadziwitse mayesero achipatala amtsogolo omwe amafunikira mitundu yonse ya EB.

Cholinga cha PEBLES chakhala kufufuza, mwatsatanetsatane, mbiri yachilengedwe ya mitundu yonse ya recessive dystrophic epidermolysis bullosa (RDEB), kuwerengera ndikutsatira momwe vutoli likukhalira, momwe limasinthira pakapita nthawi, zovuta ndi zovuta zomwe zingachitike, Zizindikiro ndi mtundu wa moyo, komanso mtengo wachuma wokhala ndi RDEB.

Kuti tichite izi, gulu la PEBLES lalemba ana ndi akuluakulu omwe ali ndi mitundu yosiyanasiyana ya RDEB omwe amapita ku EB ku London (Great Ormond Street Hospital (ana) kapena Guy's ndi St Thomas' Hospital (akuluakulu)). Iwo asonkhanitsa zambiri mwatsatanetsatane pazinthu zambiri zosiyanasiyana kuphatikizapo matenda, tsatanetsatane wa mavuto a thupi okhudzana ndi EB ndi mavuto ena azaumoyo m'moyo wonse, njira zamankhwala, mankhwala, chipatala, kuopsa kwa matenda, miyeso yokhazikika monga ululu, kuyabwa ndi khalidwe la moyo. , zotsatira za mayeso a labotale ndi mtengo wa mavalidwe ndi chisamaliro.

Pambuyo powunikira koyamba, gulu la PEBLES limabwereza ndemanga miyezi isanu ndi umodzi iliyonse (mwa ana mpaka zaka 6) kapena pachaka (opitilira zaka 10). Pakapita nthawi, izi zimapanga chithunzi chamitundu yosiyanasiyana ya RDEB mwa anthu azaka zosiyanasiyana, komanso momwe imapitira pakapita nthawi mwa munthu m'modzi. Kafukufuku wam'mbuyo adalephera kusonkhanitsa zambiri zatsatanetsatane ndipo sanawononge zomwe zapezedwa ndi RDEB subtype, zomwe ndizofunikira chifukwa mitundu yosiyanasiyana ya RDEB imatha kusiyanasiyana malinga ndi kuuma, zovuta, zizindikiro komanso momwe moyo watsiku ndi tsiku umakhalira. .

Zambiri kuchokera ku PEBLES zithandizira kuzindikira zotsatira zomwe zili zofunika komanso zofunikira mumitundu yosiyanasiyana ya RDEB, zomwe zimagwira ntchito ngati zowongolera pazoyeserera zamankhwala zam'tsogolo. Pamene mankhwala atsopano apangidwa kwa anthu omwe ali ndi RDEB, deta ya PEBLES idzatha kusonyeza momwe vutoli lingakhalire, ndikufananiza ndi zomwe zasonkhanitsidwa m'mayesero omwe njira zothandizira zimafuna kusintha njira ya matendawa.

Kuphatikiza apo, chidziwitso chomwe chasonkhanitsidwa mkati mwa kafukufukuyu chithandiza kupanga chithunzi chokwanira cha momwe mitundu yosiyanasiyana ya RDEB imasinthira pakapita nthawi, kuyambira pakubadwa m'magawo onse amoyo. Izi zithandiza kudziwitsa anthu omwe ali ndi EB, mabanja awo ndi magulu azachipatala za momwe matenda angadziwire, zomwe angayembekezere pakapita nthawi komanso zovuta zomwe zingafunikire kuwunika kapena kulandira chithandizo. Kupitilira apo, zambiri za PEBLES pamitengo yatsatanetsatane yazachuma komanso chikhalidwe cha anthu posamalira anthu omwe ali ndi RDEB ikhala yofunikira kwambiri pakutsimikizira ndalama pakukonza ndi kutumiza kwamankhwala atsopano a EB.

PEBLES yakhala ikulembera anthu omwe akutenga nawo mbali kuyambira kumapeto kwa 2014 ndipo idachita ndemanga za 360 kuchokera kwa anthu 65 omwe adalemba ntchito kumayambiriro kwa September 2022. adayesa kukhala ndi anthu ambiri komanso ndemanga zambiri mwa anthu omwewo pakapita nthawi kuti apange chithunzi chokwanira komanso cholondola cha chikhalidwecho.

Zambiri zochokera ku PEBLES zidzasindikizidwa ndi kupezeka kwa ofufuza omwe akuyesa mayeso a zachipatala pogwiritsa ntchito njira zosiyanasiyana mwachitsanzo, chithandizo cha ma cell kapena majini, kusintha ma jini, chithandizo cholowa m'malo mwa mapuloteni ndi mankhwala. Adzatha kugwiritsa ntchito chidziwitso cha kafukufukuyu kuti athandize kusankha zoyenera ndi zodalirika zotsatila pazoyeserera zawo zachipatala. Kuphatikiza apo, ofufuza atha kugwiritsa ntchito data ya PEBLES ngati data yowongolera pamaphunziro awo; izi zitha kukhala zothandiza kwambiri chifukwa RDEB ndi yosowa kwambiri ndipo sizingakhale zotheka nthawi zonse kapena mwachilungamo kukhala ndi anthu okwanira omwe amamwa mankhwala a placebo poyesa.

Zidziwitso zochokera kumadera osiyanasiyana zikasindikizidwa, gulu la PEBLES lipangitsa kuti deta yaiwisi yosadziwika ipezeke m'malo osungiramo ofufuza kapena makampani ogulitsa mankhwala kuti apeze chilolezo cha gululo. Izi zikutanthauza kuti amatha kuwona zambiri mwatsatanetsatane kuti adziwe zambiri za zotsatira kapena kuwongolera deta. Mwanjira imeneyi, PEBLES idzakhalapo kuti ithandizire gulu lalikulu la kafukufuku wazachipatala kuti lithandizire kupereka chithandizo chatsopano kwa anthu omwe ali ndi EB. (Kuchokera Lipoti Lomaliza Januware 2023.)