Recent research has revealed that losartan, a medication commonly prescribed for hypertension in adults, shows promising results in treating children with epidermolysis bullosa, offering new hope for patients with this debilitating condition.
Epidermolysis bullosa, often referred to as "butterfly skin" due to the extreme fragility of the skin, is a rare genetic disease that affects approximately 500 people in Spain. The condition prevents the body from synthesizing collagen 7, a crucial protein that binds the epidermis and dermis layers of skin together. Without this protein, even the slightest touch or impact can cause painful sores and wounds that may remain open for years.
Seven-year-old Mía Millán is one of these patients. Born with a large, bright red spot on her right leg, she was quickly diagnosed with dystrophic epidermolysis bullosa after spending her first night crying inconsolably. Her mother, Ana González, describes the daily challenges: "A minimum of three hours a day of treatment, bandages, and pain, in addition to a life highly conditioned by all the limitations imposed by the blisters themselves and the precautions to avoid opening new ones."
Losartan Repurposing Shows Promise
The repurposing of losartan for epidermolysis bullosa represents a significant development in the treatment landscape. This angiotensin II receptor blocker, which has been used for decades to treat high blood pressure in adults, has demonstrated efficacy in healing the characteristic lesions of butterfly skin in recent studies.
This discovery follows a common pattern in medical research where existing medications are found to have beneficial effects for conditions other than those they were originally developed to treat. The advantage of drug repurposing is that these medications have established safety profiles, potentially accelerating their approval for new indications.
Recent Advances in Epidermolysis Bullosa Treatment
The news about losartan comes on the heels of another major breakthrough for epidermolysis bullosa patients. In February 2023, the European Medicines Agency (EMA) approved Vyjuvek (beremagene geperpavec), a gene therapy that has shown remarkable results in clinical trials.
"This is historic; we've been waiting for this for years," says Evanina Morcillo Makow, director of DEBRA Piel Mariposa, an association that supports patients with the condition in Spain.
Vyjuvek is administered as a gel applied directly to the skin. It contains a modified herpes simplex virus that carries healthy copies of the COL7A1 gene, which enables cells to produce the missing collagen 7 protein. According to Dr. Rocío Maseda, an associate physician in the Dermatology Department at La Paz Hospital in Madrid, "The gel is administered once a week and improves healing in more than 70% of wounds after three months of treatment."
Understanding Epidermolysis Bullosa
Epidermolysis bullosa affects between one in every 17,000 and 50,000 live births. The recessive dystrophic forms are the most severe, impacting not only the skin but also internal mucous membranes. Dr. Maseda explains that "these patients experience complications in all their organs and can develop squamous cell carcinoma, an aggressive type of cancer that shortens their life expectancy."
The disease manifests in different forms, with approximately half of the 500 Spanish patients having the more complex recessive forms. The condition significantly impacts quality of life, requiring extensive daily care and causing chronic pain.
Challenges in Treatment Access
While these advances offer hope, there are concerns about patient access to new therapies, particularly gene therapies like Vyjuvek. A study published in JAMA Dermatology identified Vyjuvek as potentially the most expensive drug ever approved by regulatory agencies, with lifetime treatment costs potentially reaching $20 million per patient.
Unlike other gene therapies that are administered in a single dose, Vyjuvek may require chronic, sometimes weekly applications throughout a patient's life, with each vial priced at $24,250.
César Hernández, Director General of the Common Portfolio of Services and Pharmacy at Spain's Ministry of Health, acknowledges the challenge: "Public systems must develop solutions, in some cases imaginative ones, that address these challenges while facilitating patient access to the therapies they need."
A Multi-pronged Approach
The potential of losartan to treat epidermolysis bullosa represents an important complementary approach to gene therapy. While gene therapies like Vyjuvek target the underlying genetic cause of the disease, repurposed drugs like losartan may offer more accessible treatment options that could be implemented more quickly and at lower cost.
For patients like Mía Millán, these advances offer hope for a better quality of life. Her mother dreams of a day when "she could have a life similar to any other child's" with wounds that heal more easily and less painful daily treatments.
As research continues, the combination of gene therapies and repurposed medications may provide a comprehensive approach to managing this challenging condition, offering new hope to patients and families affected by epidermolysis bullosa.
