Breakthrough Gene Therapy For Butterfly Children’s Disease

A groundbreaking treatment offers hope to individuals grappling with a rare and devastating skin disorder known as epidermolysis bullosa. This innovative treatment not only provides relief to those affected by the condition but also introduces a new funding model that could revolutionize rare disease research.

The U.S. Food and Drug Administration (FDA) recently approved ZEVASKYN, the first autologous, cell-based gene therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB), commonly referred to as “Butterfly Children’s Disease.” This milestone approval is a significant advancement for the half-million individuals worldwide living with this rare condition and highlights the impact of an innovative venture philanthropy model reshaping how rare disease research is funded.

The Wings of a Butterfly, the Resilience of a Warrior

Children born with Epidermolysis Bullosa (EB) face immense challenges from birth. Their skin, as delicate as a butterfly’s wings, blisters and tears easily, leading to open wounds, chronic pain, and increased susceptibility to infections.

“For over 20 years, I’ve witnessed my son confront the relentless challenges of EB with a strength no child should have to muster,” shares Faye Dilgen, Board Member of EB Research Partnership (EBRP) and mother of John Hudson Dilgen, who lives with RDEB. “This new treatment not only provides relief, hope, and expanded options, but it also brings us closer to a future where children with EB won’t have to endure the same struggles.”

For the approximately 500,000 individuals worldwide affected by EB, everyday activities that many take for granted become monumental tasks requiring adjustments. In RDEB, mutations in both copies of the COL7A1 gene hinder the production of functional Type VII collagen, a crucial protein that anchors the dermis to the epidermis of the skin.

This results in extremely fragile skin prone to extensive blistering and severe wounds covering more than 30 percent of a patient’s body surface—and in severe cases, up to 80 percent. These wounds cause intense pain and can remain open for years, leading to systemic complications that significantly impact both the length and quality of life.

A Scientific Breakthrough Delivered Through Persistence

ZEVASKYN, developed by Abeona Therapeutics, represents a significant scientific advancement in RDEB treatment. Unlike previous treatments, ZEVASKYN targets the genetic root cause of the disease by providing patients with genetically modified skin cells (keratinocytes) capable of producing functional Type VII collagen.

“Through a single surgical application, ZEVASKYN can now offer individuals with RDEB the potential for wound healing and pain reduction even in severe wounds,” explains Vish Seshadri, Ph.D., M.B.A., Chief Executive Officer of Abeona Therapeutics.

The results from clinical trials have been remarkable. In the pivotal Phase 3 VIITAL study, 81 percent of large chronic wounds treated with a single application of ZEVASKYN showed 50 percent or more healing after six months, compared to just 16 percent in control wounds treated with standard care. Moreover, in earlier Phase 1/2a studies, researchers observed lasting wound healing and pain reduction for years following a single application.

“In the completed Phase 1/2a study of ZEVASKYN, we have observed wound healing and pain reduction that have lasted for years after a single application,” notes Jean Tang, M.D., Ph.D., professor of dermatology and lead principal investigator of the VIITAL study. “Today, we can celebrate the availability of an exciting new therapeutic option made possible by the incredible courage of patients and families who participated in these clinical studies.”

The procedure entails surgically applying sheets of the patient’s modified cells to wounded areas. In a single application, up to 12 credit card-sized sheets can be joined together to cover large areas or applied to multiple distinct wounds, allowing for significant coverage of affected body areas.

A Revolutionary Funding Model for Rare Disease Research

Equally remarkable as the scientific breakthrough is the innovative funding model that facilitated the development of ZEVASKYN. EB Research Partnership (EBRP), the world’s largest nonprofit funding research to expedite treatments and find a cure for EB, invested in the groundbreaking work that led to ZEVASKYN at Stanford University under their pioneering Venture Philanthropy Model.

This model operates differently from traditional charitable giving by investing in projects with commercial potential and negotiating for a share of the resulting financial returns, which are then reinvested into additional promising research.

“EBRP is proud to be an early investor via our Venture Philanthropy Model in the science leading to ZEVASKYN at Stanford University,” says Michael Hund, CEO of EBRP. “The collaboration between EBRP and Stanford exemplifies the mission of EBRP to advance commercially sustainable research aimed at treating and ultimately curing epidermolysis bullosa.”

The funding followed a highly competitive application and screening process overseen by EBRP’s Scientific Advisory Board, composed of leading scientists and physicians. When the research demonstrated promise, EBRP was able to realize a significant return on its investment and reinvest that capital back into additional promising EB research projects.

This innovative approach addresses a critical gap in rare disease research funding. With over 10,000 rare diseases affecting approximately 400 million people worldwide, and 95% of these conditions lacking approved treatments or cures, traditional funding models have proven insufficient. Venture philanthropy creates a sustainable cycle of investment and return that can accelerate research across multiple conditions simultaneously.

“Abeona’s development and advancement of ZEVASKYN delivers a landmark moment for the global EB community, and their leadership in gene therapy holds so much promise to innovate the therapeutic landscape for not only EB, but many other rare diseases and conditions,” Hund adds.

Over the last decade, EBRP has made remarkable progress in its mission, raising over $70 million, funding more than 160 EB projects, and contributing to a 25-fold growth in the EB clinical trial landscape. Most importantly, the organization has directly funded two FDA-approved EB treatments, with ZEVASKYN marking the third FDA-approved treatment for the condition overall.

Hope on the Horizon for Families

For families living with RDEB, the approval of ZEVASKYN represents not just a new treatment option but a fundamental shift in their outlook on the future.

The treatment is expected to be available beginning in the third quarter of 2025 through ZEVASKYN Qualified Treatment Centers (QTCs), strategically located across the U.S. to ensure nationwide access. Abeona has also established a comprehensive patient support program, Abeona Assist, offering personalized support for eligible patients and families throughout their treatment journey.

“Having a new, uniquely differentiated, gene therapy for our patients with RDEB is a significant milestone in helping these special patients live fuller, pain-free and itch-free lives with fewer wounds,” says Marissa Perman, MD, Section Chief of Dermatology and Director of the Epidermolysis Bullosa Multidisciplinary Clinic at Children’s Hospital of Philadelphia.

A Model for the Future of Rare Disease Treatment

The significance of ZEVASKYN’s approval extends beyond its immediate impact on the EB community. It provides a blueprint for how innovative funding models, scientific breakthroughs, and patient advocacy can combine to overcome the challenges of rare disease treatment development.

“This milestone is a testament to the dedication of scientists, researchers and medical professionals who have worked tirelessly to bring cutting edge treatments to those in need,” says Joyce Teng, MD, PhD, professor in dermatology with multiple hospital affiliations. “It represents a scientific triumph, a profound step toward improving quality of life for individuals affected.”

As the third FDA-approved treatment for RDEB and the first autologous, cell-based gene therapy for the condition, ZEVASKYN represents a growing momentum in the field that offers hope not just to the EB community but to all those affected by rare diseases.

“Public awareness of EB has never been stronger,” notes EBRP, “and this most recent FDA approval underscores the momentum building around research, advocacy, and support.”

As the third FDA-approved treatment for RDEB and the first autologous, cell-based gene therapy for the condition, ZEVASKYN represents a growing momentum in the field that offers hope not just to the EB community but to all those affected by rare diseases. For the hundreds of thousands of “Butterfly Children” around the world, that momentum might finally mean wings strong enough to fly.