A new stem-cell based therapy for the rare and debilitating skin condition recessive dystrophic epidermolysis bullosa (RDEB) has had promising results about it reported recently.
The therapy, which infuses stem cells, was shown to reduce severity and give pain relief for this skin condition. The fragile skin in RDEB also scars and is prone to skin cancers. No cure for RDEB currently exists.
Also known as “Hallopeau–Siemens variant of epidermolysis bullosa” or “Hallopeau–Siemens disease”, recessive dystrophic epidermolysis bullosa is a painful skin disease, in which very minor skin injury leads to poorly healing wounds and blisters.
It is one of the variants of Epidermolysis bullosa dystrophica or Dystrophic EB (DEB), an inherited disease affecting the skin and other organs. “Butterfly children” is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.
In this Phase I/II EBSTEM trial, led by King’s College London in collaboration with Great Ormond Street Hospital, safety of the treatment was tested. The trial also looked to determine whether it could help to reduce the severity of the disease and improve quality of life for patients.
Stem Cell Infusions
For the initial six months of the trial, the 10 children with RDEB who participated were given three infusions of stem cells (mesenchymal stromal cells) grown from the bone marrow of unrelated donors.
In ealier studies, mesenchymal stem cells have been shown to seek out wounded tissue and arbitrate wound healing. Notwithstanding the cells do not survive permanently, they may still furnish clinical benefits.
The 10 children were monitored for one year following the cell infusions. An array of monitoring tests showed no serious adverse effects in patients who received the therapy.
The reported pain level scores were on average lower than before treatment. Severity of the condition was also reported to have lowered after the infusions. Parents also reported fewer blisters, less skin redness and better wound healing.
Range of Benefits
Lead author Dr Gabriela Petrof, of St John’s Institute of Dermatology at King’s College London, said:
“We found that wound healing improved in all 10 children and the skin was less inflamed. Many of the kids also mentioned their skin was less painful and itchy, and their parents noted how much more energetic they were.”
Outcomes of the trial are promising overall, the paper concludes. But this is an unblinded study of participants, which may introduce a positive bias in the information reported.
Families interviewed reported a breadth of benefits from a family being able to plan their first vacation together, getting better sleep, and one parent being able to return to work part-time because of reduced caring needs.
Principal investigator Dr Anna Martinez, of Great Ormond Street Hospital, said:
“Giving the cells is straightforward, but we now have to fine tune the optimal dose and interval between infusions whilst work continues on more long term-therapies.”
More investigation is needed to more deeply understand the mechanisms involved. For example, whether the stem cells trigger the production of a variety of growth factors and cytokines to stimulate wound healing and reduce inflammation in the skin.
Also needed are further studies to verify efficacy of the treatment and establish optimal stem cell dosage to give RDEB patients.
Gabriela Petrof, Su M Lwin, Magdalena Martinez-Queipo, Alya Abdul-Wahab, Simon Tso, Jemima E Mellerio, Ineke Slaper-Cortenbach, Jaap J Boelens, Jakub Tolar, Paul Veys, Mercy Ofuya, Janet L Peacock, Anna E Martinez and John A McGrath
Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa
Journal of Investigative Dermatology (23 April 2015) | doi:10.1038/jid.2015.158