Media release 24 April 2026

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.
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 (B
VEC), 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 looking forward to 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.

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 results 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.

About The Royal Children’s Hospital Foundation
The Royal Children’s Hospital Foundation is the philanthropic arm of the RCH, funding excellence in patient
care, research and innovation to help transform outcomes for children and young people. To support this
work, visit www.rchfoundation.org.au/support.