Health Condition - Fragile like a butterfly: optimism for genetic treatment.
Little Cathy rides her tricycle unsteadily, and her parents' anxious gazes are locked onto her. Even the slightest fall can lead to significant consequences for Cathy from Zwickau, Germany. "Cathy is like a raw egg," says her mom, Katharina Hofmann.
The four-year-old has the incurable butterfly disease, which sounds mystical but often results in frequent pain, extensive care, and many limitations in everyday life. Some individuals even have a short lifespan.
Medical professionals refer to epidermolysis bullosa (EB) - a rare condition caused by changes in one's genes. Some individuals possess a mutation yet remain unscathed, but they may pass it down to their children. Therefore, Katharina and her husband Frank.
A genetic mutation weakens the bond between the skin's layers. This complication translates to blisters and open wounds resulting from the tiniest injuries, friction, or pressure. Mucous membranes can also be affected, making eating challenging and causing severe internal injury.
Katharina and Frank Hofmann desire a close-to-normal life for their Cathy. This entails tolerating the tricycle's potential risks. Nevertheless, there are terrifying moments. "I was running with her, holding her hand," recalls Katharina with a shiver. Cathy had fallen, and instinctively, Katharina tried to embrace her. "As I held her hand, I peeled off the upper layer of her skin like a glove. That was a nightmare for me," reminisces the mother. Cathy had to rush to the hospital due to her fingers' imminent fusion.
Cristina Has is an expert on EB in Germany and attends to patients at Freiburg University Hospital's Epidermolysis bullosa center. "We undertook an epidemiological study and detected around 2000 affected individuals in Germany," reveals Has.
These individuals often lead severely restricted lives due to the more severe EB forms. Curative treatment remains elusive, but therapies can alleviate symptoms. Frequent complications include growth retardation, anemia, swallowing problems, and kidney, heart, and other organ issues. Additionally, they may experience skin necrosis in hands and feet, necessitating wheelchair confinement.
Cathy, who also has EB, conducts a daily grueling procedure at such a young age. She is under the care of child services for eight hours per day. The caretakers accompany her to kindergarten in the morning. She endures a lengthy bandage change during noon, too drained to play while her peers sleep. Only then can she rest.
For several years, gene therapy has provided hope to patients and their families. In 2015, a German-Italian research team extracted skin from a boy, genetically modified it, and then transplanted it onto the wound areas. Approximately 80% of the skin was replaced in this manner.
The treatment is complex and time-consuming, notes Has. Thus far, only a few patients have undergone this process. The Catholic Clinic in Bochum, which provided aftercare, reports favorable outcomes. However, she acknowledges that there have been no subsequent cases involving this treatment.
Expectations are also directed towards a US-based treatment. Vyjuvek is the medication from publicly-traded company Krystal Biotech, which received the U.S. regulatory agency FDA's approval a year ago. It stems from a genetically altered herpes virus and is applied as a gel to wounds, transferring new COL7A1 genes that cultivate collagen proteins absent from the skin. This intervention encourages wound healing, according to Has. The therapy is currently utilized by two individuals in Freiburg. "This is, to my knowledge, the first application of this drug in Germany, if not Europe," shares Has. "We are astounded by its effects."
Families of affected individuals are inquiring about this therapy and seeking consultation in trials. They anticipate a European approval by year's end.
Despite its potential benefits, the treatment carries considerable costs. The expenses are currently estimated at approximately $800,000 USD ($737,000 Euros) for a half-year treatment for a single patient - applied weekly by healthcare professionals.
To ensure the continuation of this treatment, nursing services and wound centers in the vicinity of the patients must be included. "The therapy must be carried out continuously on open wounds," an expert explains. It is expected that, over time, the wound areas of the patients will decrease and the need for the medication will diminish.
The expert sees potential for many patients to improve their quality of life in the future through this therapy. Although the disease will not be cured, it could make life more manageable, enabling individuals to attend school, study, or pursue a career.
The Hofmanns have high hopes for their daughter, Käthe, with the new drug as well. Katharina Hofmann said, "I've read promising patient reports from the United States. I'm really hoping for the children in Germany with large chronic wounds to benefit from this therapy, as well as my Käthe."
As a way to raise awareness about the rare butterfly disease and collect funds for the treatment, the Hofmanns are joining forces with a friend who owns an iconic East German vehicle: the Trabant 601. This car was manufactured in Zwickau for the first time 60 years ago.
At the end of June, Jan-Erik Nord from Berlin will embark on a charity run across the United States in a Trabi painted champagne beige. The journey spans approximately 6000 kilometers, from the East Coast to Stanford in California. Throughout this period, Nord intends to gather donations. Accompanying him will be a teddy bear, a gift from Käthe for the trip.
For both humans and cars, letting go of the past can be difficult.
Read also:
- The Hofmanns are eager for gene therapy, a potential solution that has shown promising results in Europe and the USA.
- In Fribourg, Switzerland, a hospital specializes in treating rare skin diseases, including EB, providing hope to patients like Cathy.
- The rise of gene therapy in Europe is not limited to Germany; Baden-Württemberg and Saxony are also leading in the field, advancements that could benefit patients worldwide.
- The costs of gene therapy are substantial, with half-year treatments for a single patient estimated at over $800,000 USD.
- Germany's Chancellor Olaf Scholz has announced plans to provide additional funding for healthcare infrastructure, which could help make gene therapy more accessible for patients.
- With advancements in gene therapy, children with EB might have the opportunity to attend school, pursue careers, and live healthier, more manageable lives.
- In the USA, a genetically altered herpes virus gel called Vyjuvek has been approved for use in treating EB, with positive results reported in Germany and potentially Europe soon.
- Despite the optimism surrounding gene therapy, critics argue that its long-term effects on patients' health and genetic integrity remain unknown, raising controversies over its widespread use.
- In response to the high costs of gene therapy, several global organizations and governments are making efforts to subsidize and facilitate the access to these treatments for affected families.
- European societies are becoming increasingly more social and conductive to initiatives that foster cooperation and investment in medical research, paving the way for better care and treatments for individuals who suffer from rare diseases such as EB.
