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Ex Vivo Gene Therapy Clinical Trial for RDEB Using Genetically Corrected Autologous Skin Equivalent Grafts
Bu çalışma, resesif distrofik epidermolizis bülloza (recessive dystrophic epidermolysis bullosa, RDEB) adlı kalıtsal deri hastalığı olan hastalarda, hastanın kendi hücrelerinden genetik olarak düzeltilerek üretilen deri greftlerini kullanan bir ex vivo gen terapisini incelemektedir. Çalışmaya, iki alelli COL7A1 mutasyonları doğrulanmış ve deri greftlemesine uygun yaralı bölgeleri olan 18 yaş ve üzeri hastalar alınmıştır. Çalışma Faz 1/Faz 2 aşamasındadır; şu an katılımcı almamakta ancak devam etmektedir (active, not recruiting).
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
Inclusion Criteria: 1. Clinical and molecular diagnosis of RDEB with confirmed bi-allelic COL7A1 mutations 2. Reduced staining of C7 on skin biopsy, measured by immunofluorescence microscopy (IF) 3. A reduced number of/or morphologically abnormal anchoring fibrils confirmed by TEM 4. Detection of non-collagenous-1 domain (NC-1) of C7 on skin biopsy, measured by immunofluorescence microscopy (IF) and/or Western blot (WB) analysis 5. Presence of ≥100cm2 of blistered and/or erosive skin areas including chronic wounds suitable for skin grafting 6. Ability to undergo anaesthesia for skin grafting procedures 7. Subjects aged 18 years, willing and able to give informed consent Exclusion Criteria: 1. Recipients of other investigational medicinal products within 6 months prior to enrolment into this study 2. Past medical history of biopsy proven skin malignancy 3. Immunotherapy including oral corticosteroids (Prednisolone \>1mg/kg) for more than one week (intranasal and topical preparations are permitted) or chemotherapy within 60 days of enrolment into this study 4. Known allergy to any of the constituents of the investigational medicinal product (IMP) including Penicillin 5. Subjects with BOTH: * positive serum antibodies to C7 confirmed by ELISA and * positive IIF with binding to the base of salt split skin and/or * positive Western blot 6. Positive results for HIV, Hepatitis BsAg, Hepatitis BcAb, Hepatitis C IgG, HTLV1\&2 or Syphilis serology 7. Clinically significant medical, psychological or laboratory abnormalities limiting the ability of the subject to travel to the trial site(s) and to undergo grafting and follow-up procedures, as determined by the Investigator 8. Absence of adequate social support 9. Subjects who are pregnant, breast-feeding or of child-bearing potential who are neither abstinent nor practicing an acceptable means of contraception when this is in line with the usual and preferred lifestyle of the subject, as determined by the Investigator, for the duration of the trial