Patients with Epidermolysis Bullosa (EB) are known as Butterfly Children, because their skin is as vulnerable as the wings of a butterfly. Even the slightest contact or friction can easily tear or blister their skin, leaving painful wounds. Internal organs and systems can also be affected. Constant pain, disfigurement, disability and early death are all possible outcomes. Though EB is known as “The Worst Disease You’ve Never Heard Of™”, there is currently no cure or treatment. But we want to change that.
Philae Pharmaceuticals is an academic spin-off company from the University Medical Center Groningen (UMCG). Our team comes from the Center for Blistering Diseases where the multidisciplinary epidermolysis bullosa group has been serving a large number of Dutch patients with EB since 1997.
The new drug therapy for EB as pursued by Philae Pharmaceuticals builds on the academic research by several EB centers in Europe who together, in 2012, embarked on an Allele Specific Oligonucleotide (AON) exon-skipping strategy for COL7A1 in severe generalized EB. The results of systemic therapy of AON-mediated exon skipping of COL7A1 for EB were recently presented at the European Society of Dermatological Research in Rotterdam.
Proof-of-principle has been shown of human COL7A1 exon skipping and restoration of type VII collagen expression along the basement membrane zone after systemic subcutaneous injection of a particular AON in a mouse transplant model. This systemic approach brings one-step treatment of the patient’s whole skin and the mucous membranes within reach.
Meet Jonathan Pitre, a courageous EB patient with an incredible strength and will to live.
If you are, or represent, a healthcare investor, healthcare venture capital fund, philanthropist, or philanthropic foundation we invite you to join us in this breakthrough, life-changing research.
Check back often to see how we build Philae Pharmaceuticals in our mission to provide long-awaited relief for young patients as quickly as possible. And please tell a friend!
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