Breakthrough Gene Therapy For Butterfly Children's Disease

Forbes

30-04-2025

A revolutionary treatment brings new hope to those suffering from a devastating rare skin disorder, while showcasing an innovative funding model that could transform rare disease research
In a landmark development for rare disease treatment, the U.S. Food and Drug Administration (FDA) has approved ZEVASKYN, the first autologous, cell-based gene therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB), a devastating skin condition often called "Butterfly Children's Disease." The approval marks a pivotal moment not only for the half-million people worldwide living with this rare condition but also demonstrates the power of an innovative venture philanthropy model that's reshaping how rare disease research is funded.
The Wings of a Butterfly, the Resilience of a Warrior
Children born with Epidermolysis Bullosa (EB) face extraordinary challenges from their first breath. Their skin, as fragile as a butterfly's wings, blisters and tears with the slightest friction, leading to open wounds, chronic pain, and susceptibility to infections.
"For over 20 years, I've watched my son face the relentless challenges of EB with strength no child should ever have to summon," says Faye Dilgen, Board Member of EB Research Partnership (EBRP) and mother of John Hudson Dilgen, who lives with RDEB. "This new treatment doesn't just offer new relief, hope, and expanded options, it brings us closer to a future where children with EB won't have to endure the same struggles."
For the approximately 500,000 people worldwide with EB, everyday activities that most take for granted—eating, sleeping, walking, and playing—become monumental tasks often requiring modification. In RDEB, which is one of the most severe forms of the condition, mutations in both copies of the COL7A1 gene prevent the body from producing functional Type VII collagen, a critical protein that anchors the dermis (inner layer) to the epidermis (outer layer) of the skin.
The result is extremely fragile skin characterized by extensive blistering and severe wounds that can cover more than 30 percent of a patient's body surface—and in some cases up to 80 percent. These wounds cause debilitating pain and can remain open for years. Many that do close tend to reopen, leading to systemic complications that significantly impact both the length and quality of life.
Gene therapy for rare pediatric disease
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A Scientific Breakthrough Delivered Through Persistence
ZEVASKYN (pronounced "ZEE-vah-skin"), developed by Abeona Therapeutics, represents a scientific leap forward in the treatment of RDEB. Unlike previous treatments, ZEVASKYN addresses the genetic root cause of the disease by providing patients with their own skin cells (keratinocytes) that have been genetically modified to produce functional Type VII collagen.
"Through a single surgical application, ZEVASKYN can now offer people with RDEB the opportunity for wound healing and pain reduction in even the most 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. Even more promising, in earlier Phase 1/2a studies, researchers observed wound healing and pain reduction lasting for years after 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 involves 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
Perhaps equally remarkable as the scientific breakthrough is the innovative funding model that helped bring ZEVASKYN to market. EB Research Partnership (EBRP), the world's largest nonprofit funding research to accelerate 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, which has been highlighted for its leadership by Harvard Business School, Stanford Social Innovation Review, Yale University, the Milken Institute, and MIT, operates differently from traditional charitable giving. Rather than simply donating to research, EBRP invests in projects with commercial potential and negotiates 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 showed 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 having no 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 less wounds," says Marissa Perman, MD, Section Chief of Dermatology and Director of the Epidermolysis Bullosa Multidisciplinary Clinic at Children's Hospital of Philadelphia.
Hope for children with genetic disease
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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.