Gene therapy for epidermolysis bullosa
What is epidermolysis bullosa?
Epidermolysis bullosa (EB) is a rare genetic disease that causes painful skin blistering. EB can range from mild to severe. Several types of EB have been identified. The type is determined by the specific gene variant that causes the disease. The different types of EB affect specific layers of skin tissue, but in general EB affects skin’s structure and strength, and connectivity of the skin’s layers.
The common symptom of all people with EB is that they have extremely fragile skin. The blisters can form in response to minor trauma, even to rubbing the skin, and can advance to become open, bleeding sores, prone to infection and in some cases scarring. Some children also develop blisters and sores inside the body, such as in the mouth or the lining of the esophagus (food pipe). It can also affect other internal organs.
In most cases, epidermolysis bullosa is a condition inherited by one or both parents. A family history of epidermolysis bullosa – a parent, grandparent, aunt or uncle with the disease – increases the likelihood that your child will have it.
How is gene therapy used to treat epidermolysis bullosa?
Currently there is no “cure” that addresses the underlying cause of epidermolysis bullosa. Instead, gene therapies for EB are localized to help heal specific wounds.
Epidermolysis bullosa treatment options at CHOP
At CHOP, your child’s EB care is managed through the Epidermolysis Bullosa Multidisciplinary Clinic, where they can receive coordinated treatment from all the specialists they may need. Our experts are experienced at treating children with EB, and our physicians and scientists are active participants in clinical trials. We are tirelessly evaluating data that helps us better understand this rare disease so we can create new and innovative treatments.
CHOP currently offers the following therapies for epidermolysis bullosa:
- Vyjuvek® gene therapy: Vyjuvek® is a topical gene therapy for dystrophic EB (DEB) approved for patients 6 months and older. A healthcare provider applies the gel directly to your child’s wounds once a week. With this therapy, the gel delivers a functional copy of the gene directly to your child’s skin cells, which helps to produce collagen and facilitate wound closure and healing. It’s typically used for smaller wound areas.
- Filsuvez® treatment: Filsuvez® is another topical wound-care gel approved for patients 6 months and older, although it does not involve gene therapy. Filsuvez® is made of a birch bark extract and is applied to a wound to promote closure and healing.
What’s on the horizon for gene therapies for epidermolysis bullosa?
Alternative approaches to gene delivery are in constant development. Although current gene therapies for EB are localized to specific wound areas, the hope is that these breakthroughs lead to more robust therapies for skin repair, and then eventually a cure. Until a cure is found, EB is considered a lifelong condition, with symptoms that will need management.
The Epidermolysis Bullosa Multidisciplinary Clinic at Children’s Hospital of Philadelphia brings together the many pediatric specialists needed to manage your child’s EB.