Local or systemic injections of cells, fibroblasts, mesenchymal stromal cells (MSC’s) and other bone marrow derived cells, in an aim to ameliorate the condition. The aim is to eventually replace the missing protein with gene modified/gene edited cells which are patient derived therefore reducing rejection risks
Professor John McGrath, Leading EB Researcher and dermatologist. Guys and St Thomas’s, Kings College, London UK. Clinical Trials to inject fibroblasts locally and establish effectiveness of the blood stream delivery of a specific subset of bone marrow cells (mesenchymal stromal cells) plus injections of gene modified fibroblasts
Professor Jakub Tolar, Minnesota USA. Pioneered the use of Bone Marrow Transplantation and working on iPSC’s for RDEB and gene editing for RDEB using a variety of ‘molecular scissors’
Correcting a sufferer’s own cells. Using a Lentiviral vector to gene modify patient fibroblasts and mesenchymal stromal cells
Dr Waseem Qasim and Professor Adrian Thrasher, Professor John McGrath, Institute of Child Health, Guildford Street, London, UKA set of clinical trials effectively correcting a sufferers owns cells to be given at local sites and then working towards correcting cells for intravenous use, aiming to give a whole body treatment.
Giving the missing collagen 7 protein as injections first locally, by microneedles, and potentially systemically. Researchers at the University of Southern California (USC) and Stanford University have pioneered this work.
Protein replacement therapy would not cure EB but has potential to be a “quality of life changing”-treatment, Future research in this area could include investigating topical and ocular applications.
Dr’s Woodley and Chen of the University of Southern California are pioneering protein replacement therapy for Dystrophic EB. This technology was purchased by Shire pharmaceutical but the work is currently on hold after some toxicity problems and there is very little information at this time re a re-start of the programme.
Peter Marinkovich at Stanford is also engaged in protein therapy development
Topical or Oral drugs that can modify or ‘read through’ certain types of mutations in RDEB. There are various pharmaceutical companies looking into re purposing drugs but one of the pioneers of this research is
Professor Irwin McLean, University of Dundee
who is teamed up with Robyn Hickerson, University of Dundee