Donate Today
Every gift, no matter the size, helps change children’s lives.

Gene therapy for epidermolysis bullosa

Gene therapy for epidermolysis bullosa

Reviewed by Marissa J. Perman, MD

Reviewed on

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 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 from 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 in identifying clinical trials in this space. We are frequently 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:

  • Two localized gene therapies to treat EB have been approved for use by the Food and Drug Administration (FDA) and are offered at CHOP.
    • Vyjuvek® is a topical gene therapy for dystrophic EB (DEB) approved for newborns to adults. A healthcare provider or caregiver applies the gel directly to your child’s wounds once a week to improve wound closure and healing.
    • Another gene therapy, ZEVASKYN®, is approved to treat recessive dystrophic EB (RDEB) in newborns to adults. CHOP joins five other Qualified Treatment Centers (QTCs) authorized for the administration of ZEVASKYN® (prademagene zamikeracel) gene-modified cellular sheets.

ZEVASKYN is a one-time therapy for targeted wounds. It can be applied on larger wound areas or on multiple smaller wounds that are on relatively flat surfaces of the body. For this therapy, two punch biopsies are taken from your child’s skin and sent to Abeona Therapeutics®. The cells are then genetically modified to produce working type VII collagen. Over a few weeks, the cells are grown and can produce up to 12 credit-card-sized “sheets” of skin that can be grafted over your child’s open wounds to promote healing. Your child will be monitored closely and instructed to leave the treated area undisturbed for 5 to 10 days after the procedure to ensure the graft is accepted. 

  • Filsuvez® is another topical wound-care gel approved for patients 6 months and older with dystrophic EB and junctional EB, 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. 
  • Vyjuvek®, Filsuvez® and Zevaskyn® are treatments used to heal specific wounds. These therapies cannot “cure” or address the root cause of EB.  

What’s on the horizon for gene therapies for epidermolysis bullosa?

Alternative approaches to gene delivery are in 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.