Nazarin Alamun PEBLES RDEB (2022)

Binciken PEBLES ya ɗauki mutane 65 (yara 16 da manya 49) tare da nau'ikan RDEB daban-daban tun daga 2014 kuma sun gudanar da bita sama da 360 na alamun su da abubuwan da suka faru.

A duk cikin wasiƙun binciken an buga su, waɗanda wasiƙar Disamba 2022 tana nan don karantawa yanzu.

A cikin 2023 masu bincike sun buga sakamakon aikin su a cikin takarda bincike game da itching a cikin RDEB. Karanta labarin game da binciken da aka buga don masu sauraro gaba ɗaya a nan. A cikin 2024, masu bincike sun sake bugawa, suna kwatanta Kudin kulawar al'ummar Burtaniya ga mutanen da ke zaune tare da RDEB, Da kuma binciken akan zafi a RDEB don kimiyya da kuma janar masu sauraro bisa bayanan da aka tattara a cikin aikin PEBLES.

"Ƙungiyar PEBLES za su so su ce babban godiya ga DEBRA UK don ba da tallafin binciken daga 2014-2022!"

Mutane 53 masu RDEB sun shiga cikin binciken PEBLES.

A cikin 2019, an jera wuraren bincike kamar:

2017 sabuntawa - PEBLES: ina muke yanzu?

Marasa lafiya 55 sun yarda: yara 11 da manya 44. An janye 2, 1 ya ɓace don bibiya
52 kammala bayanai don kima na 1st
46 kammala kima na 2
23 kammala kima na 3
5 kammala kima na 4
3 kammala kima na 5
1 kammala kima na 6

A cikin 2015, an gabatar da sakon wasika biyu ga kungiyar takan takaita ta zamani.

Farashin PEBLES BAD 2015

Sharhin Adabi BAD 2015

Jagorar mai bincike: Farfesa Jemima Mellero Mashawarcin Likitan fata ne kuma farfesa a St John's Institute of Dermatology, Guy's da St Thomas' NHS Foundation Trust. Tana da fiye da shekaru 20 tana aiki a asibiti a fannin EB da sauran cututtukan fata na kwayoyin halitta, da kuma bayanan bincike da ke kallon tushen kwayoyin halitta na nau'ikan EB daban-daban, da gwaje-gwajen asibiti zuwa sabbin hanyoyin kwantar da hankali na EB kamar fibroblast da mesenchymal stromal cell. far. Ta sadaukar da ita don ci gaba da wannan aikin don haɓaka ingantattun jiyya ga kowane nau'in EB.

Masu bincike: Dr Anna Martinez, Ms Elizabeth Pillay da Ms Eunice Jeffs.

“Mun fara ne da duba batutuwan da suka fi dacewa ga mutanen da ke fama da EB, wato ciwo, ƙaiƙayi da ingancin rayuwa. Wannan yana nuna cewa RDEB yana da matuƙar tasiri ga rayuwar yau da kullun na mutane a duk nau'ikan cututtukan cuta da kowane shekaru. Har ila yau, mun fara bincikar farashin kula da EB ta hanyar cikakken nazarin farashin sutura da riguna, da kuma farashin kulawar da aka biya. Wannan bayanin yana bayyana babban tasirin kuɗi na RDEB kuma, muna fata, zai nuna mahimmancin tattalin arziki don nemo ingantattun jiyya da magani ga EB. muna matukar godiya ga duk wadanda suka amince su shiga wannan aikin na bincike.”

Farfesa Jemima Mellero

Taken Bada: Tarihin Halitta da Nazarin Ƙarshen Nazari a cikin Epidermolysis Bullosa.
PEBLES: Nazari na Tsawon Tsawon Kwayoyin cuta Bullosa.

An fara ba da kuɗin wannan binciken a cikin 2013 don taimakawa ganowa da ayyana ƙarshen ƙarshen da zai iya zama sakamakon da aka yi niyya don gwaji na asibiti. An fara gudanar da bita na tsari na binciken da aka buga don sanin ilimin halin yanzu game da tarihin halitta na RDEB. Wannan ya nuna cewa akwai buƙatar bincike na dogon lokaci wanda ya haɗa da kima na dakin gwaje-gwaje, asibiti, ingancin rayuwa da sigogi na zamantakewa da fahimtar ci gaban cututtuka zuwa mafi girma.

Kashi na biyu na wannan aikin shine haɓaka takardar tambaya ta hanyar lantarki don ɗaukar bayanai daga majinyatan EB, iyalai da masu kulawa. Bayanan da aka kama sun haɗa da cikakkun bayanai na alƙaluma, tarihin iyali, ƙidayar blister, ƙaiƙayi, zafi da sigogi na dakin gwaje-gwaje kamar su DEXA scans (ma'auni na yawan kashi), gwajin jini da echocardiograms (binciken zuciya) - kwamfutar hannu na iya ɗaukar abubuwa har zuwa 2,000 ga kowane mai haƙuri. Ana ɓoye wannan bayanin sannan a loda shi zuwa amintaccen uwar garken wanda za'a iya bincika kuma a kwatanta shi. Bayanai sun nuna ya zuwa yanzu suna da ƙarfi kuma sun ba da tsari don taimakawa taswirar tarihin cutar, tare da bayanai masu amfani akan nau'ikan da farashin sutura alal misali.

Nuwamba 2019:

Sakamako daga wannan binciken da aka gabatar anan sun haɗa da mahalarta 53 tare da nau'ikan RDEB 4 daban-daban (bagai 41 da yara 12):

• Manya 14 da yara 11 suna da RDEB-generalised mai tsanani (RDEB-GS).
• Manya 18 da yaro ɗaya suna da RDEB-generalised Intermediate (RDEB-GI).
• Manya 8 suna da RDEB-inversa (RDEB-INV).
• 1 babba yana da pruriginosa (DEB-PR).

Wannan sabuntawa yana mai da hankali kan binciken game da ƙaiƙayi, zafi, ingancin rayuwa, da farashin sutura da kulawa mai alaƙa.

Pain da EB

Ya zuwa yanzu, an ba da rahoton cewa mahalarta suna fama da ciwo wanda ke shafar daga barcin dare 1 – 7. An auna ciwon baya da kuma matakan jin zafi da aka rubuta a lokacin sauye-sauyen sutura, yana tabbatar da cewa canje-canjen sutura yana ƙara yawan matakan zafi.
Tasirin EB akan Ingantacciyar Rayuwa (QOL)
Wadanda ke da RDEB-GS sun ba da rahoton mafi munin QOL kuma ya zuwa yanzu sun ba da rahoton babbar matsala tare da ayyuka kamar wanka, shawa, sayayya da motsi a waje da gida, sabanin sauran nau'ikan da suka sami ƙaramin tasiri. Duk ƙungiyoyi sun ba da rahoton buƙatar guje wa wasu wasanni, kodayake waɗanda ke da RDEB-GS sun fi dacewa su guji duk wasanni.
Yara da iyayensu, kamar manya, sun ba da rahoton tasiri mafi girma daga EB akan lafiyar jiki da rashin tasiri a kan lafiyar kwakwalwa, ciki har da aikin tunani, zamantakewa da makaranta ko da yake wannan yana da mahimmanci. Iyaye sun ba da rahoton babban tasiri na EB akan ingancin rayuwa fiye da yadda 'ya'yansu suke yi, suna nuna tasirin dangi.

Ciwon kai da EB

Mahalarta tare da RDEB-GS sun ba da rahoton mafi girman yawan ƙaiƙayi, tare da tsanani da damuwa daga alamun su, amma mafi ƙarancin lokacin itching. Duk nau'ikan RDEB sun ba da rahoton matsaloli tare da raunuka da wahalar yin barci sakamakon ƙaiƙayi. Tasirin ƙaiƙayi akan tashin hankali ga abubuwan yau da kullun, asarar ci, canjin hali ga wasu da kuma asarar maida hankali mahalarta tare da RDEB-GS suma sun ba da rahoto, kuma sun ɗan yi muni idan aka kwatanta da sauran nau'ikan subtypes.
Ya bayyana a sarari daga ƙarin tsokaci muddin mutane da yawa suna takaici saboda rashin ingantaccen magani na ƙaiƙayi kuma suna son a samar da sabbin jiyya.

Riguna / farashin kulawa na EB

Ga majinyata 53 da aka ɗauka, jimlar kuɗin jiyya na shekara-shekara na jiyya an kiyasta kusan fam miliyan 3: wannan ya haɗa da aƙalla £2,431,844 don magani tare da sutura, bandeji na tubular da riguna, da kuma sama da £377,650 da aka biya kulawa ga mutane 13 (10). wanda ke da RDEB-GS). Bugu da ƙari, masu kula da 18 da ba a biya su ba sun kasa neman aikin yi saboda "hakinsu" na EB ko da yake ba za a iya ƙididdige farashin wannan ba.
Yawancin mahalarta (71%) sun canza suturar su gaba ɗaya, tare da matsakaicin lokacin canjin sutura wanda ya tashi daga mintuna 39 kowace rana don RDEB-GI zuwa mintuna 105 kowace rana don RDEB-GS.

Menene gaba?

Ƙungiyar bincike ta shirya don duba yadda ƙaiƙayi, ingancin rayuwa da farashin magani ke canzawa a cikin shekaru 2-4 ta hanyar kwatanta bayanai daga mahalarta tare da sake dubawa hudu ko fiye. Yayin da suke tattara ƙarin bayanai daga kowane ɗan takara, za su iya duba canje-canje na tsawon lokaci.
Daga nan za su duba wasu fannoni na bayanan da suka rigaya suka tattara, alal misali, gano mafi munin bayyanar cututtuka, ƙarin cikakkun bayanai da cikakkun farashi don magance EB, da tasirin kula da EB akan rayuwar mahalarta da danginsu.
Kungiyar ta kuma shirya daukar karin majinyata, musamman ma yara. Za su bincika bayanan akai-akai, a hankali suna magance batutuwa da yawa da nazari waɗanda zasu samar da bayanai masu mahimmanci akan sigogi da yawa
Ƙungiyar binciken ta gabatar da waɗannan binciken ga wasu ƙwararrun ƙwararrun kiwon lafiya a taron duniya na 2020 na EB a London kuma suna shirin gabatarwa da buga bayanai don yaduwa.

Tsawaita aikin zai taimaka:

1. Ci gaba da bita na 6-watanni da 12-wata-wata na mahalarta data kasance, 52 (95%) waɗanda ke ci gaba da binciken.
2. Ci gaba da ɗaukar ƙarin majinyata daga cibiyoyin London, tare da fifiko don ɗaukar yara, don ɗaukar ƙarin game da farkon EB.
3. Binciken ci gaba na bayanan da ake samu, faɗaɗa sigogi da haɗa bayanai daga bayanan da ake da su da ƙarin bita.
4. Buga binciken da aka samu a cikin jarida / s da kuma a taro-musamman ciwo da ƙaiƙayi bayanai daga bayanan PEBLES kamar yadda waɗannan alamu ne masu mahimmanci ga marasa lafiya.
5. Buga tsarin PEBLES don haka irin wannan binciken don wasu nau'ikan EB da yuwuwar wasu yanayi na iya bin tsari da mahimman koyo daga wannan aikin.
6. Mutuncin bayanan ta hanyar siyan tallafin sarrafa bayanai don tabbatar da cewa bayanan ba su da kuskure kafin yin bitar kididdiga.
7. Ƙirƙirar ƙungiyar tuƙi don taimakawa ba da fifikon bayanai don bincike. Wannan adadi mai yawa na bayanai zai ɗauki shekaru 2 don yin nazari, saboda haka fifiko yana da mahimmanci (wanda ake tsammanin zama ingancin rayuwa, farashin sutura, kulawa da kulawa da abinci mai gina jiki).
8. Binciken yuwuwar faɗaɗa PEBLES zuwa cibiyoyin EB na ƙwararrun a wasu shafuka da ƙarin ƙasashe.

A takaice

PEBLES zai samar da ƙarin cikakkun bayanai game da RDEB fiye da waɗanda aka tattara a baya. Zai taimaka wajen gina hoto mai mahimmanci na duk wani nau'i na ma'aikatan RDEB masu kyau wanda zai kara zuwa wasu cibiyoyin kuma a cikin lokaci, sauran nau'in EB.
Daga ƙarshe, wannan aikin zai taimaka ci gaba da gano ma'anar ƙarshen ƙarshen da za su sanar da gwaje-gwajen asibiti na gaba da ake buƙata don kowane nau'in EB.

Manufar PEBLES ita ce bincika, daki-daki, tarihin halitta na kowane nau'i na dystrophic epidermolysis bullosa (RDEB), don ƙididdigewa da bin yadda yanayin ke nunawa, yadda yake canzawa akan lokaci, rikitarwa da matsalolin da zasu iya faruwa. alamomi da ingancin rayuwa, da kuma tsadar rayuwa ta zamantakewa tare da RDEB.

Don yin wannan, ƙungiyar PEBLES ta ɗauki yara da manya masu nau'ikan RDEB daban-daban waɗanda ke halartar ayyukan EB a London (Asibitin Babban Ormond Street (yara) ko Asibitin Guy da St Thomas' (manyan)). Sun tattara cikakkun bayanai game da bangarori daban-daban ciki har da ganewar asali, cikakkun bayanai game da matsalolin jiki da suka shafi EB da sauran matsalolin kiwon lafiya a duk tsawon rayuwa, hanyoyin kiwon lafiya, magunguna, alƙawura na asibiti, ƙananan cututtuka, matakan ƙididdiga kamar zafi, ƙaiƙayi da ingancin rayuwa. , sakamakon gwaje-gwajen dakin gwaje-gwaje da farashin sutura da kulawa.

Bayan bita na farko, ƙungiyar PEBLES tana maimaita bita kowane watanni 6 (a cikin yara har zuwa shekaru 10) ko kowace shekara (masu shekaru sama da 10). Bayan lokaci, wannan yana gina hoto na nau'ikan nau'ikan RDEB daban-daban a cikin daidaikun mutane na shekaru daban-daban, amma kuma yadda yake ci gaba akan lokaci a kowane mutum ɗaya. Nazarin da suka gabata sun kasa tattara irin waɗannan cikakkun bayanai kuma da wuya sun rushe binciken ta hanyar RDEB subtype, wanda ke da mahimmanci kamar yadda nau'ikan RDEB daban-daban na iya bambanta da yawa dangane da tsanani, rikitarwa, bayyanar cututtuka da tasiri a rayuwar yau da kullun. .

Bayanin daga PEBLES zai taimaka wajen gano sakamakon da ke da mahimmanci da mahimmanci a cikin nau'o'in RDEB daban-daban, yin aiki a matsayin bayanan kulawa don gwaji na asibiti na gaba. Lokacin da aka samar da sababbin hanyoyin kwantar da hankali ga mutanen da ke zaune tare da RDEB, bayanan PEBLES za su iya nuna yadda yanayin zai kasance kullum, yana aiki a matsayin mai kwatanta bayanan da aka tattara a cikin gwaje-gwajen inda ayyukan da ke nufin canza yanayin cutar.

Bugu da ƙari, bayanan da aka tattara a yayin nazarin zai taimaka wajen gina cikakken hoto na yadda nau'in RDEB daban-daban ke canzawa a kan lokaci, tun daga haihuwa a duk matakan rayuwa. Wannan bayanin zai taimaka wajen sanar da mutanen da ke zaune tare da EB, iyalansu da kungiyoyin likitoci game da hasashen cutar, abin da za su iya tsammanin tsawon lokaci da kuma yiwuwar rikitarwa waɗanda za su buƙaci kulawa ko magani. Bugu da ari, bayanan PEBLES akan cikakken farashin tattalin arziƙin zamantakewa na kula da mutanen da ke da RDEB zai kasance mai matuƙar mahimmanci wajen tabbatar da saka hannun jari a cikin ƙira da isar da sabbin hanyoyin kwantar da hankali na EB.

PEBLES yana ɗaukar mahalarta tun daga ƙarshen 2014 kuma ya aiwatar da sake dubawa sama da 360 daga masu ɗaukar ma'aikata 65 a farkon Satumba 2022. Tun da RDEB cuta ce da ba kasafai ba, musamman lokacin da aka rushe cikin nau'ikanta daban-daban, kuma tare da mutane na kowane zamani da aka haɗa, muna da yayi ƙoƙari ya ƙunshi mahalarta da yawa da kuma bita da yawa a cikin mutane ɗaya a tsawon lokaci don gina cikakken hoto mai kyau na yanayin.

Za a buga bayanai daga PEBLES kuma ga masu binciken da ke gudanar da gwaje-gwaje na asibiti tare da hanyoyi daban-daban na hanyoyin magance tantanin halitta, gyaran kwayoyin halitta, maganin maye gurbin furotin da magungunan ƙwayoyi. Za su iya yin amfani da bayanai daga binciken don taimakawa wajen zabar matakan sakamako masu dacewa da abin dogara don gwajin asibiti. Bugu da ƙari, masu bincike na iya yin amfani da bayanan PEBLES a matsayin bayanan kula da bayanan don nazarin su; wannan zai iya zama taimako musamman saboda RDEB yana da wuya kuma maiyuwa ba koyaushe zai yiwu ba ko da'a don samun isassun mutane masu shan maganin placebo a cikin gwaji.

Da zarar an buga bayanai daga wurare daban-daban, ƙungiyar PEBLES za ta samar da ɗanyen bayanan da ba a san su ba a cikin ma'ajiya don masu bincike ko kamfanonin harhada magunguna don samun dama tare da izinin ƙungiyar. Wannan yana nufin za su iya ganin bayanin dalla-dalla don samun ƙarin bayani game da sakamako ko sarrafa bayanai. Ta wannan hanyar, PEBLES za ta kasance don tallafawa al'ummomin bincike na asibiti don taimakawa sadar da sabbin hanyoyin kwantar da hankali ga mutanen da ke da EB. (Daga Rahoton Ƙarshe na Janairu 2023.)