RDEB Tedavisi İçin Gen ile Modifiye Edilmiş Deri Eşdeğeri: GMEB-SASS

Sade dilde özet

Bu çalışma, gen ile modifiye edilmiş, kendiliğinden birleşen bir deri eşdeğerini (GMEB-SASS) resesif distrofik epidermolizis bülloza (recessive dystrophic epidermolysis bullosa, RDEB) tedavisinde değerlendirmektedir. Çalışmaya, COL7A1 geninde iki alelli hastalık yapıcı varyant taşıdığı doğrulanmış ve deri greftlemesine uygun alanları bulunan hastalar alınmaktadır. Çalışma Faz 1/Faz 2 aşamasında yürütülmekte olup halen katılımcı almaktadır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

PHASE1/PHASE2

Durum

Katılımcı alıyor

Sponsor

CHU de Quebec-Universite Laval

Müdahale

Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS)

Başlangıç

07.01.2026

Tahmini bitiş

01.12.2035

Ülkeler

Canada

İlgili genler

Merkezler

• Toronto, Canada

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

* Age

Learning phase:

* Subjects 1 to 3: Eighteen (18) years old or older.
* Subjects 4 to 6: Twelve (12) years old or older.
* Subjects 7 to 9: Seven (7) years old or older.

Other Inclusion Criteria:

* Clinical diagnosis of recessive dystrophic epidermolysis bullosa (RDEB) with confirmed biallelic pathogenic variant in the COL7A1 gene.
* Candidates - or their parents/caregivers if the candidates have limited comprehension, who are able to understand the study and to comply with the study procedures.
* On the day of grafting, one or more blistered and/or erosive skin areas on the trunk and/or extremities large enough to graft at least three 25 to 50 cm2 GMEB-SASS grafts.
* Ability to undergo anesthesia.

Exclusion Criteria:

* Medical instability limiting the ability to travel to the investigative center.
* Any medical condition or illness that may impact study participation or compromise the safety of the participants, as per the investigator's judgment.
* Evidence of systemic infection.
* Current evidence or a history of non-metastatic or metastatic squamous cell carcinoma at the site to be grafted.
* Any clinically significant abnormal laboratory values or abnormal findings identified during physical examination or through medical history that could compromise participant safety, as per the investigator's judgment.
* History of or known allergy to bovine proteins.
* Active drug or alcohol addiction.
* Female candidate who are pregnant or breast-feeding.
* Candidate who has received immunotherapy, including oral corticosteroids (Prednisolone \> 1 mg/kg), for more than one week, within 2 weeks prior to the study intervention (initial biopsy and GMEB-SASS grafting) (intranasal and topical preparations are permitted).
* Candidate who has received chemotherapy within 60 days prior to the study intervention (initial biopsy and GMEB-SASS grafting).
* Candidate who has received, in the last 6 months prior to the study intervention (initial biopsy and GMEB-SASS grafting), any gene therapy, chemical or biological product modifying collagen 7 expression.