First UK clinical trial to treat children with rare skin disorder using stem cells

Testing of a new stem-cell based treatment for a rare and debilitating skin condition has begun at Great Ormond Street Hospital (GOSH).

The clinical trial, led by King’s College London in collaboration with GOSH, will recruit 10 children who have recessive dystrophic epidermolysis bullosa (RDEB).

RDEB is an inherited condition where the skin develops blisters and wounds that may be slow to heal or may stay open. Open wounds and dressings cause significant pain, and chewing and swallowing food can also become painful when children develop mouth and throat blisters.

The Phase I/II EBSTEM trial, funded by the Sohana Research Fund, will test the safety and efficacy of the treatment. During the first six months of the trial, participants will be given three infusions of mesenchymal stromal cells (stem cells) taken from the bone marrow of unrelated donors.  The children will then be monitored for two years.

Mesenchymal stem cells (MSCs) have been shown to home to wounded tissue and mediate wound healing. The clinical team hopes that the MSCs will trigger the production of a variety of growth factors and cytokines – immune system regulators - to stimulate wound healing and reduce inflammation in the skin. The trial will seek to establish that MSCs are safe for use in children with RDEB, and will also evaluate whether they help to reduce the severity of the disease and improve quality of life.

At present, there is no treatment or cure for RDEB. Children require daily wound, eye, and dental care. Some children also undergo hand surgery or throat dilation, or may need a feeding tube to ensure they receive adequate nutrition along with iron and energy supplements. The fragility of their skin can lead to scarring, especially of the hands and feet, and an increased risk of skin cancer.

Professor John McGrath, from St John's Institute of Dermatology at King’s College London and Guy’s and St Thomas’ NHS Foundation Trust, says: “This trial is an exciting step forward in trying to develop a new treatment for people living with RDEB. These cells do not cure RDEB, but we hope they will improve wound healing substantially and make the condition much more bearable. This trial will be the first of many studies of cell, gene and protein therapies for RDEB as we search for more permanent treatments for this devastating genetic disease.”

Dr Anna Martinez, from the Dermatology Department at GOSH, says: “We are delighted to be running this trial here at Great Ormond Street Hospital. It has taken many, many months to get off the ground. The support we have had from the families and patients has been incredible, and we are grateful to each and every one of them.”