View Town Hall Presentation Slides Here

​In our inaugural Town Hall Webinar, Kirk Brazeau, a dedicated father, EB advocate and soccer coach, shared his experience as a father to Archer, a 6-year-old living with Recessive Dystrophic Epidermolysis Bullosa (RDEB). With no prior family history of EB, Kirk shares how the diagnosis came as a shock when Archer developed his first blister shortly after birth. Like many others in the EB community, Kirk and his family had never heard of Epidermolysis Bullosa.

“EB does not define Archer. EB is a part of Archer but he is himself. He is his own person. He’s his own young man” shares Kirk. 

Despite having a tough time the past 8-10 months, both psychologically and physically, Archer has been very fortunate to be put on Vyjuvek as it has significantly improved his quality of life. “Archer has felt more ability to be comfortable in his own body, to try new things, to be out in the community, to be a part of teams, to get to know friends, and to go to school.” Kirk expressed gratitude to the EB community and to the many supporters who work tirelessly to advance research and treatments: “Knowing that people [we have never met] are actively working for the betterment of our family, is the strength, desire and fuel that we need to keep going and keep pushing through.”
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Archer has recently joined the Toledo Men’s Basketball team as an honorary member of Team Impact! Make sure to keep up with all things Archer and Kirk on Instagram - @Kirkbrazeau, Twitter - @KB1824, and Facebook. 

Our second speaker, Dr. Anthony Oro, is the Associate Director of the Center for Definitive and Curative Medicine at Stanford, as well as the Co-Director of the Child Health Research Institute. He is the Co-Founder of Stanford’s Program in Epithelial Biology and an active member of the Institute for Stem Cell Biology and Regenerative Medicine, and the Program in Cancer Biology. In addition to being a renowned EB researcher, Dr. Oro is also a clinician who treats EB patients at Stanford Medicine’s Children’s Health and Stanford’s Adult Dermatology Clinic. 

Dr. Oro shared with us the exciting and innovative work that Stanford is doing to lead more treatments for families like Kirk and Archer’s: 
Stanford's stem cell research aims to develop definitive therapies by using a patient’s own cells. Through a combination of stem cell biology, CRISPR gene editing, and bioengineering, researchers can take a biopsy from a patient, correct genetic mutations in their stem cells, and then grow these cells into large colonies using iPS (induced pluripotent stem) cell drive technology. These cells can be scaled at Stanford's facilities to create skin tissue, including epidermis, dermis, and pigment cells, which can then be applied to wounds. 

The goal is for these cells to regenerate the damaged tissue and continue to grow as the patient ages, making this a "one-and-done" definitive therapy.

This innovative approach is particularly promising for conditions like EB, where the corrected cells can produce collagen 7, which is vital for healthy skin. This research, supported by EB Research Partnership alongside vital input from the global EB community, is also being extended to develop therapies for other tissues, such as esophageal cells and corneal cells.
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Stanford’s approach is focused on patient-forward development, emphasizing teamwork and collaboration with the EB community to guide the development of new therapies. ​

Q&A Session

We invited any community members to submit questions beforehand and ask them live on the call.

​QUESTION: Can you talk about some regulatory hurdles in the cell and gene therapy field and how your group has managed them? How many years are we from getting some of these cell therapies?

• ANTHONY: Cell and gene therapies are “living therapies” that can stay with a patient for their lifetime which poses regulatory challenges that make the FDA cautious. In order to overcome these regulatory hurdles, the EB community has to engage with regulatory boards to develop a better understanding of how these therapies will be used and what risk-tolerance will be. 
• Researchers at Stanford have already met with the FDA and had them review the aforementioned therapies. Researchers at Stanford are now working on a next generation of therapies to address the concerns shared by the FDA.
• The Bespoke GeneTherapy Consortium is a public-private partnership, with the FDA, suggested by patients and funded by the NIH and other partners with aims to create a competitive regulatory landscape and will go into effect this fall.
• MICHAEL: EBRP was an early investor in Abeona’s autologous, engineered cell therapy, pz-cel, for RDEB which is now under FDA Review. “Treatment with pz-cel involves using gene transfer to deliver COL7A1 genes into an RDEB patient’s own skin cells (keratinocytes) and transplanting them back to the patient to enable normal Type VII collagen expression and skin function.” Abeona’s pz-cel up for  FDA approval later this year. 

QUESTION: How can the EB community help influence the FDA in approval for these therapies?

• ANTHONY: The EB community can help influence the FDA in approving therapies by sharing their experiences, speaking at conferences, contacting local representatives, and more!
• The main reason the FDA is around is to protect us as patients and make sure the claims that sponsors of the therapy make are safe and validated with data. Therefore, getting involved in knowing the therapies coming down the line and becoming advocates for these therapies is important. The EB community has an enormous say in getting the FDA to go faster, as long as it is safe and effective.
• MICHAEL: EBRP is always happy to help with your advocacy efforts. If you are ever looking for guidance or support please feel free to reach out to us at [email protected]!

QUESTION: I follow Kirk on Instagram and love that Archer is able to participate in sports! How did you make that decision and how do you balance activities like this with caution and concern for his skin?

• KIRK: When deciding to let Archer participate in sports, it was essential to balance care and concern for his skin with the understanding that life needs to be lived. As he's getting older, Archer can now advocate for himself, expressing his needs and preferences. Small steps and extra precautions are taken along the way, like using shoes with extra cushion and making sure to wrap known problem areas. It's important to focus on the positives rather than letting fear dominate our decisions. Ultimately, you know yourself/your child better than anyone else, so making these choices will always come down to each individual. 

QUESTION: Are there any therapies for corneal abrasion relief? 

• MICHAEL: The work Dr. Oro is doing at Stanford also has the potential down the road to work for corneal abrasions.
• Researchers at the University of Miami Miller School of Medicine’s Bascom Palmer Eye Institute have shown that VYJUVEK, is working to effectively treat corneal abrasions in a patient with DEB. For more information, click HERE and HERE. 
• Eliksa Therapeutics is currently pioneering the development of ELK-003, an eye drop designed to address corneal abrasions in individuals with DEB. EBRP has been proud to support the development of this therapy which is currently recruiting for their clinical trial.

QUESTION: What is going on with EB Simplex?

• MICHAEL: EBRP has supported several projects at Stanford focusing on Epidermolysis Bullosa Simplex (EBS) and are currently funding iPS simplex projects at the University of Colorado. A few years ago, a generous supporter provided a matching grant that stimulated nearly $3 million in funding for simplex projects, including a recent initiative at the University of Wisconsin to create organoids for EB Simplex patients.

• Since each genetic variation of EB presents a unique phenotype, it is essential to understand how each of the variations of these genes are expressed and how they correlate in terms of the patient's lived experience. This understanding not only aids in correcting genetic mutations but also provides insights into how a mutation might affect a patient from birth. At EBRP, we have partnered with Dr. Oro, Dr. Tang, Stanford, GeneDX, and AWS to create a comprehensive patient registry for all EB subtypes, both in the U.S. and globally. Through this registry, patients can share their lived experiences, which we then correlate with genetic data. This approach allows us to gather valuable insights into how different genetic variations manifest, helping us to develop new therapies. Read more here.

QUESTION: Kirk, what’s something you want the research and/or clinical community to know about living with EB that they might not already know?

• KIRK: It is important to truly listen to those with lived experiences, as their insights and expertise are invaluable. Paying attention to the questions being raised is crucial for understanding the needs and challenges faced by individuals with EB.

QUESTION: In regard to your goal to cure EB by 2030, what potential challenges do you foresee over the next 5 years? What can laypersons do to help you achieve this goal?

• MICHAEL: The largest obstacle to advancing research and meeting our goal to cure EB by 2030 isn’t science, it’s funding. We as an organization, for the first time in the last couple years are having to say no and turn away science and projects meaning that there is more science out there than we can fund. 
• Here are a few ways you can help:
  • Join the Effect - small actions can generate a big impact! Our monthly giving program is a great way to amplify your impact and help us continue to fund research
  • Apply for funding - of course there’s no research to fund without research applications, so spread the word about EBRP’s grant opportunities to researchers, universities, or companies you may know who are doing innovative work in the EB space
  • Attend monthly Town Halls - keep coming back, keep learning, and share what you’ve learned with your networks. Awareness is critical in advancing our work. For our September Town Hall we’ll be talking with Dr. Andy South and Humphrey Hanley about EB community members in their 30s and 40s, squamous cell carcinoma, and emerging therapies in this space. 

Register for September Town Hall!