Breakthrough Gene Therapy For Butterfly Children's Disease

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
getty
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
getty
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.

Try Our AI Features

Explore what Daily8 AI can do for you:

Learn with AIFact CheckingText to SpeechAI Summary

Related Articles

Newsweek

2 hours ago

• Newsweek

How Animal Testing in US Could Be Transformed Under Trump

Based on facts, either observed and verified firsthand by the reporter, or reported and verified from knowledgeable sources. Newsweek AI is in beta. Translations may contain inaccuracies—please refer to the original content. Millions of animals each year are killed in U.S. laboratories as part of medical training and chemical, food, drug and cosmetic testing, according to the non-profit animal rights organization People for the Ethical Treatment of Animals (PETA). For many animals held captive for research, including a huge range of species from dogs, cats and hamsters to elephants, dolphins and many other species, pain is "not minimized," U.S. Department of Agriculture data shows. The issue of animal testing is something most Americans agree on: it needs to change and gradually be stopped. A Morning Consult poll conducted at the end of last year found that 80 percent of the 2,205 participants either agreed or strongly agreed with the statement: "The US government should commit to a plan to phase out experiments on animals." Since President Donald Trump began his second term, his administration has been making moves to transform and reduce animal testing in country, although the question remains as to whether it will be enough to spare many more animals from pain and suffering this year. Animal Testing In US Could Be Transformed Animal Testing In US Could Be Transformed Photo-illustration by Newsweek/Getty/Canva What Is The Trump Administration Doing About It? There have been various steps taken in different federal agencies to tackle the issue of animal testing since Trump was sworn in on January 20. In April, the Food and Drug Administration (FDA) announced it was "taking a groundbreaking step to advance public health by replacing animal testing in the development of monoclonal antibody therapies and other drugs with more effective, human-relevant methods." The FDA said that its animal testing requirement will be "reduced, refined, or potentially replaced" with a range of approaches, including artificial intelligence-based models, known as New Approach Methodologies or NAMs data. A Department of Health and Human Services (HHS) official told Newsweek: "The agency is paving the way for faster, safer, and more cost-effective treatments for American patients. "As we restore the agency's commitment to gold-standard science and integrity, this shift will help accelerate cures, lower drug prices, and reaffirm U.S. leadership in ethical, modern science." The National Institutes of Health (NIH) announced it was "adopting a new initiative to expand innovative, human-based science while reducing animal use in research," in alignment with the FDA's initiative. The agency said that while "traditional animal models continue to be vital to advancing scientific knowledge," new and emerging technologies could act as alternative methods, either alone or in combination with animal models. The NIH Office of Extramural Research told Newsweek it was "committed to transparently assessing where animal use can be reduced or eliminated by transitioning to [new approach methodologies (NAMs)]." "Areas where research using animals is currently necessary represent high-priority opportunities for investment in NAMs," the agency added. It added that it will "further its efforts to coordinate agency-wide efforts to develop, validate, and scale the use of NAMs across the agency's biomedical research portfolio and facilitate interagency coordination and regulatory translation for public health protection." During Trump's first term, the Environmental Protection Agency (EPA) signed a directive to "prioritize efforts to reduce animal testing and committed to reducing testing on mammals by 30 percent by 2025 and to eliminate it completely by 2035," an EPA spokesperson told Newsweek. Although, the spokesperson added: "the Biden Administration halted progress on these efforts by delaying compliance deadlines." As a member of the House, Lee Zeldin, the EPA's current administrator, co-sponsored various bills during Trump's first term regarding animal cruelty, covering issues such as phasing out animal-based testing for cosmetic products; ending taxpayer funding for painful experiments on dogs at the Department of Veteran Affairs; empowering federal law enforcement to prosecute animal abuse cases that cross state lines; and others, the spokesperson said. What The Experts Think Needs To Be Done The Trump administration's efforts to tackle the issue of animal testing appear to be a step in the right direction, according to experts who spoke with Newsweek. "I was pleasantly surprised and quite frankly a bit shocked to read the simultaneous announcements by the NIH and the FDA regarding a new emphasis on the use of alternatives to animals," Jeffrey Morgan, a professor of pathology and laboratory medicine at Brown University in Rhode Island, told Newsweek. Morgan, who is also the director of the Center for Alternatives to Animals in Testing at Brown University, said that both agencies are moving together in the same direction on the issue "sends a unified and very powerful message to the research and biotech communities." He added that the announcements showed "a major acknowledgement of the limitations of the use of animals in research and testing." "What is especially exciting is that the NIH announcement will encourage the entry of new investigators into the field, further accelerating innovation in alternatives with exciting impacts for both discovery and applied research across all diseases," he said. He added that the FDA announcement and its emphasis on a new regulatory science that embraces data from alternatives was "equally exciting." "The demands of this new regulatory science will likewise accelerate innovation because it will establish the much-needed regulatory framework for the rigorous evaluation of data from alternatives," he said. While the administration's initiatives to shift research away from animal testing is heading in the right direction, its policies are "overdue," Dr. Thomas Hartung, a professor in the department of environmental health and engineering at Johns Hopkins Bloomberg School of Public Health, Maryland, told Newsweek. "The animal tests for safety were introduced more than 50 years ago. There is no other area of science where we do not adapt to scientific progress," he said. Hartung added that animal "testing takes too long and is too expensive to really provide the safety consumers want." He said that running animal tests for new chemicals can cost millions and take years in some cases. "Nobody can wait that long, even if they can afford the testing costs," he said. Hartung also believes the shifts in the industry to reduce animal testing have been "coming for a while," as over the last two decades, America's opposition to animal use in medical research has been increasing. "The alignment of FDA and NIH really makes the difference now, which I think is evidence of a strong relationship of their leaderships," he said. Yet in order to make a real difference, Hartung said clear deadlines are key to show that "this is not just lip service." He also said that he thought "the transformative nature of artificial intelligence in this field is not fully acknowledged." "We also need an objective framework for change to better science, such as the evidence-based toxicology approach," he said.

Medscape

2 hours ago

• Medscape

Fast Five Quiz: Alcohol Use Disorder

Alcohol use disorder remains a significant public health challenge in the United States, affecting more than 29 million individuals and contributing to more than 140,000 deaths each year. Despite its high prevalence and devastating health consequences, alcohol use disorder often goes underdiagnosed and undertreated. A widely accepted heuristic framework conceptualizes alcohol use disorder as a 3-stage cycle, binge/intoxication, withdrawal/negative affect, and preoccupation/anticipation, offering clinicians a lens through which to understand its complex neurobiological underpinnings and diverse clinical presentations. Although effective behavioral therapies and several US Food and Drug Administration-approved medications are available for the treatment of alcohol use disorder, these interventions remain markedly underused, contributing to a substantial treatment gap. How much do you know about alcohol misuse and alcohol use disorder? Test your knowledge with this quick quiz. Alcohol misuse in alcohol use disorder can vary, from a pattern of intermittent episodes of binge drinking, to a pattern of prolonged heavy drinking over longer periods of time, to a continual drinking pattern due to fear of alcohol withdrawal. A heavy drinking day is defined as consuming 4 or more drinks for females and 5 or more drinks for males in a single day. In the United States, a standard drink is defined as 12 oz of beer, 5 oz of wine, and 1.5 oz of a distilled beverage. This definition helps identify patterns of alcohol misuse that might indicate alcohol use disorder. Learn more about alcoholism guidelines. Alcohol use disorder is more common in males, although the gap is narrowing. Although males are more likely to engage in frequent and heavy consumption, have a greater consumption of spirits, and experience higher rates of alcohol use mortality, females are at greater risk for certain health complications from alcohol, such as liver damage and experiencing higher blood alcohol concentrations at the same level of intake. Learn more about alcoholism presentation. The most frequent central nervous system consequence of persistent alcohol consumption is alcoholic cerebellar degeneration. This condition results from alcohol toxicity leading to damage of the cerebellum, the brain area responsible for coordination and balance. It commonly presents with gait instability, and balance problems, affecting 10%-25% of individuals with chronic alcohol use. Wernicke's encephalopathy is an acute, reversible condition caused by thiamine deficiency; it is not the most frequent long-term central nervous system consequence of alcohol consumption. Korsakoff syndrome is a chronic neuropsychiatric disorder that often follows untreated Wernicke's encephalopathy and is caused by malnutrition in combination with prolonged drinking. Although chronic alcohol use can lead to alcohol-related dementia, it occurs less frequently than alcoholic cerebellar degeneration. Learn more about Wernicke-Korsakoff syndrome. Alcoholic polyneuropathy, caused by prolonged alcohol use and often associated with nutritional deficiencies like thiamine deficiency, typically presents as a symmetrical sensory neuropathy. Females have a greater rate of alcoholic polyneuropathy. The most common symptoms of alcoholic polyneuropathy are ataxia, pain, and paresthesia. Other frequent symptoms include burning pain in the arms, soles of the feet and toes, and cramping in the calves and hands. Skin alterations do occur in alcoholic polyneuropathy, but they are considered secondary or less common symptoms compared with the hallmark neurological signs. The muscle weakness seen in alcoholic polyneuropathy primarily affects distal muscles, like the feet and hands. Hair loss can happen as a minor trophic change, but it is not a defining or common symptom of alcoholic polyneuropathy. Learn more about alcoholic neuropathy. Benzodiazepines are the recommended class of medication for treating alcohol withdrawal syndrome because they are effective in preventing severe complications of alcohol withdrawal syndrome, such as seizures and delirium tremens, and are considered the criterion standard treatment due to their fast onset, long duration, and safety profile. Selective serotonin reuptake inhibitors do not target the GABAergic or glutamatergic systems involved in alcohol withdrawal syndrome, making them ineffective for managing withdrawal symptoms. Beta-blockers can help control some autonomic symptoms like tremors or tachycardia but do not prevent seizures or delirium tremens, so they are not appropriate as primary treatment. N-methyl-D-aspartate receptor antagonists can modulate glutamate activity but lack enough evidence to be first-line therapy for alcohol withdrawal syndrome. Learn more about alcohol withdrawal syndrome.

Business Insider

7 hours ago

• Business Insider

Incyte announces FDA extends review period for Opzelura sNDA

The company states: 'Incyte (INCY) announced that the FDA has extended the review period for the supplemental New Drug Application, sNDA, for ruxolitinib cream, Opzelura, a topical Janus kinase inhibitor, for the treatment of children 2-11 years old with mild to moderate atopic dermatitis. The PDUFA action date has been extended by three months to September 19, 2025. The FDA extended the PDUFA action date to allow time to review additional chemistry, manufacturing and controls data on the 0.75% strength submitted by Incyte in response to a recent FDA information request.' Steven Stein, M.D., Chief Medical Officer, Incyte stated: 'We are confident in the potential of ruxolitinib cream to become an important non-steroidal, topical treatment option for pediatric patients with atopic dermatitis and we will continue to work closely with the FDA to ensure the Agency has all of the information needed to complete its review.' Confident Investing Starts Here: