Clinical trial for a new stem-cell based therapy for a rare skin condition proves promising

9 Sep 2015, 4:52 p.m.

Promising findings from a trial for a new stem-cell based therapy for a rare skin condition have been published in the Journal of Investigative Dermatology. The study, which involved intravenous injections of stem-cells, has led to an improvement in the quality of life for the subjects and their carers.Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin disease which results in the severe blistering of the skin. It is caused by a mutation in the protein, COL7A1, which leads to reduced anchoring of the upper skin layers to deeper tissue. Currently there is no effective cure for this condition.

The clinical trial, which recruited 10 patients with RDEB, was led by Professor John McGrath at Kings College London and BRC-supported Principal Investigator Dr Anna Martinez at GOSH. The patients were followed up for one year following the stem cell infusions, which took place three times over a six month period. Questionnaires revealed an improvement in skin healing following blistering and a reduced pain score after therapy. The severity of the condition has also reported to be lessened.

Overall, the results from this study appear promising. While the patients in this study were not blinded, which the researchers’ state could lead to a positive bias towards the new treatment, patient benefits such as better sleep and reduced caring needs remains a positive from this study.

Read the full press release here.

Engineered tissue offers hope for children born with ‘missing’ food pipe

Scientists from Great Ormond Street Hospital (GOSH) and University College London (UCL) have created the first lab‑grown oesophagus - the food pipe - shown to safely replace a full section of the organ and restore normal function, including swallowing, in

GOSH celebrates Rare Disease Day 2026 with local community

GOSH specialises in rare disease research and to celebrate, we recently invited two local North London Year 4 classes to join us for the day to learn about how we care for patients with rare diseases.

Professor Francesco Muntoni wins prestigious research prize

Professor Francesco Muntoni, GOSH Paediatric Neurology Consultant, has been awarded the 2026 Novo Nordisk Prize in recognition of his pioneering work transforming the outlook for children with Duchenne muscular dystrophy (DMD).

GOSH secures £1.4m in NIHR capital equipment funding to boost research capability

This investment will significantly strengthen our research infrastructure and enhance our ability to deliver world‑leading paediatric research across the whole hospital.