A four-year-old boy has become the first child in Australia to receive an advanced gene therapy for Epidermolysis Bullosa at The Royal Children’s Hospital, marking a milestone in treatment for the rare genetic condition.
Epidermolysis Bullosa, or EB, is a condition that causes extreme skin fragility, where even minor contact can lead to blistering and open wounds. There is no cure, and treatment has largely focused on managing symptoms.
Jacob Burmeister, who has one of the most severe forms of the condition known as recessive dystrophic EB, began treatment in December with beremagene geperpavec (B-VEC), a topical gene therapy applied weekly to wounds. The condition is caused by a faulty gene that affects the production of collagen VII, a protein needed to hold layers of skin together.
“Since starting the treatment, Jacob’s life – and our family’s – has completely changed,” said his 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 therapy was granted through the Therapeutic Goods Administration Special Access Scheme, following an 18-month process to allow the hospital to bring the treatment into Australia. Expanded access programs can allow early use of emerging therapies, though they are not publicly funded.
Jacob Burmeister, who has one of the most severe forms of the condition known as recessive dystrophic EB, began treatment in December with beremagene geperpavec (B-VEC), a topical gene therapy applied weekly to wounds.
Funding for Jacob’s treatment came through The Royal Children’s Hospital Foundation, alongside support from EB Research Partnership Australia, Cure EB Foundation and individual donors.
Jacob’s paediatrician, Associate Professor Tom Connell, said the therapy represents a wider shift in how rare diseases are treated.
“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,” he said.
“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.”
He said broader access to such treatments remains a key issue as new therapies emerge.
“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.”
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