Individuals struggling with rare skin diseases may be in for hope after clinical trials find effective treatments that are seeking current FDA approval.
Epidermolysis bullosa is a rare skin disease that is inherited and composed of three different major types.
Stanford research finds breakthrough treatment for dystrophic epidermolysis bullosa (DEB).
DEB symptoms include blisters and itchy skin — patients currently have few options available for treatment.
Researchers at Stanford Medicine conducted a study on a gel therapy to treat dystrophic epidermolysis bullosa (DEB), a rare genetic skin disease that causes severe open wounds. Few remedies have been available except for palliative care, but that may no longer be the case in the near future.
The study tested 31 people with the disease featuring either the gel therapy titled Beremagene geperpavec (B-VEC), a topical gene therapy designed to restore C7 protein, or a placebo. Participants were 6 months of age or older. Results overly favor the gel therapy, with 67% of wounds healing after six months of B-VEC therapy versus the placebo at 22%.
One of the participants was 22-year-old Vincenzo Mascoli from Italy has lived with DEB for 20 years. For Mascoli, following six months of B-VEC therapy he was completely healed after not being able to sleep on his back or take a bath without immense pain.
Peter Marinkovich, MD, director of Stanford Medicine’s Blistering Disease Clinic and senior author of the study, hopes that the results from the two studies will lead to advances in gene therapy for a plethora of diseases. He and his team have already applied for approval of B-VEC for DEB, potentially making it the first topical gene therapy treatment for use in the U.S.
What is DEB?
Epidermolysis bullosa (EB) has three major types, dystrophic epidermolysis bullosa (DEB), epidermolysis bullosa simplex (EBS), and junctional epidermolysis bullosa (JEB). The disease is inherited and is common in infants or toddlers, but for some symptoms don’t arise until adulthood. Approximately 200 children a year are born with EB in the U.S. — no treatment or cure currently exists.
- Skin blisters easily, primarily in palms and feet
- Itchy skin
- Dental health issues
- Hurtful to swallow
- Hair loss
- Blisters in the mouth, throat, or scalp
- Skin begins to appear thin
All three of types of EB affect different skin layers. DEB affects the dermis, EBS the epidermis, and JEB between the dermis and epidermis. JEB is the least common form of EB, as 95% of EB cases in the U.S. involve DEB and EBS.
The outer and inner layers of skin and the lining of some organs are held together by a protein called type VII collagen. It receives orders from the COL7A1 gene. Mutations to this specific gene lead to failure in type VII collagen proteins resulting in DEB. DEB can be inherited as a dominant (DDEB) or a recessive (RDEB) trait, with RDEB being the most severe of the two.
How does the gel works?
B-VEC uses an altered herpes simplex virus, delivering a copy of the type VII collagen directly to the skin as a gel. This medication is unique because it uses the herpes virus, which has evolved to evade the human system over time. Other products have involved other virus forms which trigger an immune response, making them ineffective.
What is gene therapy?
Genes within cells play a vital role in a person’s health, but a defective gene or genes can lead to an illness. Scientists have multiple options during gene therapy, including replacing a gene causing an issue, adding genes to help cure a disease, or turn-off genes causing problems.
The goal of gene therapies is to modify cells inside or outside of the body like the gel used by Stanford scientists. Currently, gene therapies must be tested in clinical trials for safety and effectiveness. Mild side effects including itching and chills were prevalent with the B-VEC. In general, Marinkovich praised the gel for its proven effectiveness in the study while speaking to Stanford Medicine.
Sometimes referred to as comfort care, palliative care specializes in relieving the patient of pain to provide patients and families with a better quality of life. It is usually offered to those suffering from life-threatening illnesses such as cancer, heart disease, dementia, kidney failure, lung disease, and more.
Palliative care can help with some symptoms of depression, pain, or insomnia. Currently, palliative care is the only option for those suffering from serious forms of DEB.