{"id":10785,"date":"2026-04-24T05:57:06","date_gmt":"2026-04-23T19:57:06","guid":{"rendered":"https:\/\/blogs.rch.org.au\/news\/?p=10785"},"modified":"2026-04-24T05:58:55","modified_gmt":"2026-04-23T19:58:55","slug":"hope-at-last-for-butterfly-children","status":"publish","type":"post","link":"https:\/\/blogs.rch.org.au\/news\/hope-at-last-for-butterfly-children\/","title":{"rendered":"Hope at last for \u2018butterfly children\u2019"},"content":{"rendered":"

Media release <\/em>24 April 2026<\/em><\/p>\n

First child in Australia treated for Epidermolysis Bullosa with advanced gene therapy<\/strong><\/h1>\n

\"\"<\/p>\n

In an Australian first, The Royal Children’s Hospital (RCH) has delivered groundbreaking gene therapy to a child
\nliving with severe Epidermolysis Bullosa (EB), offering new hope to families affected by this devastating
\ncondition.
\nEB is a rare genetic condition that has no cure and causes the skin to be as fragile as a butterfly wings. Even the
\nslightest touch can result in painful blistering and open wounds.
\nFour-year old Jacob Burmeister is the first child in Australia to be treated with beremagene geperpavec (B
\nVEC), a topical gene therapy applied weekly to skin wounds. Jacob has one of most severe forms of the
\ncondition, known as recessive dystrophic EB, which affects both children and adults. It is caused by a faulty
\ngene responsible for producing collagen VII \u2013 a protein critical for holding layers of skin together.
\nJacob’s treatment began in December, and the early impact has been profound.
\n\u201cSince starting the treatment, Jacob\u2019s life \u2013 and our family\u2019s \u2013 has completely changed,\u201d said Jacob\u2019s
\nfather, Nathan Burmeister.
\n\u201cWe’re looking forward to spending less time changing dressings and more time playing with our boy and
\nwatching him grow.
\n\u201cAs a parent, when you\u2019re told your child has a rare disease and there\u2019s no cure, you feel helpless. To have
\naccess to something that gives real hope is life-changing.\u201d
\nAccess to the advanced therapy was granted under the Therapeutic Goods Administration\u2019s Special Access
\nScheme, following an 18-month process to enable the RCH to safely bring this topical therapy into the
\ncountry. Expanded access programs play a vital role in enabling the early use of promising treatments;
\nhowever, they are not publicly funded.
\nThis treatment has been made possible through visionary funding from The Royal Children\u2019s Hospital
\nFoundation, alongside significant support and partnership from EB Research Partnership Australia and Cure EB
\nFoundation, and a community of generous individual donors committed to changing what\u2019s possible for
\nchildren across the country.<\/p>\n

\"\"
\nAs new therapies for rare diseases continue to emerge, exploring sustainable funding pathways will be critical
\nto ensure Australians can equitably access the life-changing treatments they need.
\nJacob\u2019s paediatrician at the RCH, Associate Professor Tom Connell said the treatment marked a turning point \u2013
\nnot only for EB but for rare diseases more broadly.
\n\u201cEpidermolysis Bullosa is one of the most confronting conditions I have seen in children. Families live with
\nextraordinary pain and burden every day, it\u2019s relentless,\u201d said Associate Professor Connell.
\n\u201cThis treatment demonstrates what is now possible as advanced therapies emerge for rare genetic diseases.
\nAround the world, these therapies are transforming outcomes for people who previously had no treatment
\noptions at all.\u201d
\nAssociate Professor Connell said he hopes to see these advanced therapies available more widely.
\n\u201cEvery child who is eligible, no matter where they live, should have access to life-changing treatment like
\nthis. While Jacob is the first to receive this care, we hope he is the first of many.\u201d<\/p>\n

About Epidermolysis Bullosa<\/strong>
\nEpidermolysis\u202fbullosa (epi-dermo-lie-sis bull-owe-sa, also called EB) is a group of rare genetic diseases that
\ncause very fragile skin, effecting less than one in 20,000 children. The skin is so fragile that it can be injured
\nvery easily (even from heat, rubbing or a bump) and results in blisters and wounds.
\nHuman skin has two main layers, the epidermis (the topmost layer) and the dermis (the inner layer). These
\nlayers are normally held together with proteins that act like a glue. The genetic changes in EB cause these
\nproteins to be reduced or missing, and this results in easy blistering and skin breakdown with minor injury.
\nFor more information on EB, visit RCH Kids Health Info
\npage: https:\/\/www.rch.org.au\/kidsinfo\/fact_sheets\/epidermolysis_bullosa\/<\/p>\n

About beremagene geperpavec<\/strong>
\nBeremagene geperpavec (B VEC) is a topical gene therapy that treats wounds in patients with dystrophic EB.
\nThe topical gel is applied weekly to skin wounds and works by delivering a healthy copy of the missing gene
\ndirectly to skin cells at the wound site, enabling local production of collagen VII and allowing chronic wounds \u2013
\nsome present since birth \u2013 to begin healing.
\nWhile not a cure, the therapy has the potential to significantly reduce wound burden, pain and disability, and
\nimprove the quality of life of children and adults with dystrophic EB.<\/p>\n

About The Royal Children\u2019s Hospital Foundation<\/strong>
\nThe Royal Children\u2019s Hospital Foundation is the philanthropic arm of the RCH, funding excellence in patient
\ncare, research and innovation to help transform outcomes for children and young people. To support this
\nwork, visit www.rchfoundation.org.au\/support.<\/p>\n","protected":false},"excerpt":{"rendered":"

In an Australian first, The Royal Children’s Hospital (RCH) has delivered groundbreaking gene therapy to a child
\nliving with severe Epidermolysis Bullosa (EB), offering new hope to families affected by this devastating
\ncondition.<\/p>\n","protected":false},"author":6846,"featured_media":10786,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[8971,26963,6],"tags":[26967,26966,26964],"class_list":["post-10785","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-featured","category-media-release","category-in-the-news","tag-advanced-therapies","tag-eb","tag-media-release"],"acf":[],"_links":{"self":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts\/10785","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/users\/6846"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/comments?post=10785"}],"version-history":[{"count":4,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts\/10785\/revisions"}],"predecessor-version":[{"id":10791,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/posts\/10785\/revisions\/10791"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/media\/10786"}],"wp:attachment":[{"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/media?parent=10785"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/categories?post=10785"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.rch.org.au\/news\/wp-json\/wp\/v2\/tags?post=10785"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}