First child in Australia treated for Epidermolysis Bullosa with advanced gene therapy
In an Australian first, The Royal Children’s Hospital (RCH) has delivered groundbreaking gene therapy to a child living with severe Epidermolysis Bullosa (EB), offering new hope to families affected by this devastating condition – made possible through the power of philanthropy.
EB is a rare genetic condition that has no cure and causes the skin to be as fragile as a butterfly wings. Even the slightest touch can result in painful blistering and open wounds.
Four-year old Jacob Burmeister is the first child in Australia to be treated with beremagene geperpavec (BVEC), a topical gene therapy applied weekly to skin wounds. Jacob has one of most severe forms of the condition, known as recessive dystrophic EB, which affects both children and adults. It is caused by a faulty gene responsible for producing collagen VII – a protein critical for holding layers of skin together.
Jacob’s treatment began in December, and the early impact has been profound.
“Since starting the treatment, Jacob’s life – and our family’s – has completely changed,” said Jacob’s father, Nathan Burmeister.
“We’re seeing wounds that have never healed start to repair, and his mobility continues to improve. Jacob is now able to walk to kindergarten. We’re spending less time changing dressings and more time playing with our boy and watching him grow.
“As a parent, when you’re told your child has a rare disease and there’s no cure, you feel helpless. To have access to something that gives real hope is life-changing.”
Access to the advanced therapy was granted under the Therapeutic Goods Administration’s Special Access Scheme, following an 18-month process to enable the RCH to safely bring this topical therapy into the country. Expanded access programs play a vital role in enabling the early use of promising treatments; however, they are not publicly funded.
This treatment has been made possible through visionary funding from The Royal Children’s Hospital Foundation, alongside significant support and partnership from EB Research Partnership Australia and Cure EB Foundation, and a community of generous individual donors committed to changing what’s possible for children across the country.
Chief Executive Officer of the RCH Foundation, Ryan Brown, said this milestone reflects the critical role philanthropy plays in accelerating access to Australian-first treatments.
“This breakthrough is a powerful example of what’s possible when philanthropy backs innovation and world-class care. Through the generosity of our supporters, we can move faster, think bigger and bring life-changing therapies to children who otherwise have no options.”
“We are deeply grateful to the community of donors who made this possible. Their belief in better outcomes for children is helping turn global scientific advances into real-world impact – giving families like Jacob’s not just hope, but tangible change.”
As new therapies for rare diseases continue to emerge, exploring sustainable funding pathways will be critical to ensure Australians can equitably access the life-changing treatments they need.
Jacob’s paediatrician at the RCH, Associate Professor Tom Connell said the treatment marked a turning point – not only for EB but for rare diseases more broadly.
“Epidermolysis Bullosa is one of the most confronting conditions I have seen in children. Families live with extraordinary pain and burden every day, it’s relentless,” said Associate Professor Connell.
“This treatment demonstrates what is now possible as advanced therapies emerge for rare genetic diseases. Around the world, these therapies are transforming outcomes for people who previously had no treatment options at all.”
Associate Professor Connell said he hopes to see these advanced therapies available more widely.
“Every child who is eligible, no matter where they live, should have access to life-changing treatment like this. While Jacob is the first to receive this care, we hope he is the first of many.”
About Epidermolysis Bullosa
Epidermolysis bullosa (epi-dermo-lie-sis bull-owe-sa, also called EB) is a group of rare genetic diseases that cause very fragile skin, effecting less than one in 20,000 children. The skin is so fragile that it can be injured very easily (even from heat, rubbing or a bump) and result in blisters and wounds.
Human skin has two main layers, the epidermis (the topmost layer) and the dermis (the inner layer). These layers are normally held together with proteins that act like a glue. The genetic changes in EB cause these proteins to be reduced or missing, and this results in easy blistering and skin breakdown with minor injury.
For more information on EB, visit RCH Kids Health Info page: https://www.rch.org.au/kidsinfo/fact_sheets/epidermolysis_bullosa/
About beremagene geperpavec
Beremagene geperpavec (B VEC) is a topical gene therapy that treats wounds in patients with dystrophic EB. The topical gel is applied weekly to skin wounds and works by delivering a healthy copy of the missing gene directly to skin cells at the wound site, enabling local production of collagen VII and allowing chronic wounds – some present since birth – to begin healing.
While not a cure, the therapy has the potential to significantly reduce wound burden, pain and disability, and improve the quality of life of children and adults with dystrophic EB.
Media Enquiries
Stephanie Tassoni – Director, Communications
P: 0421 762 191
E: stephanie.tassoni@rch.org.au