Gene Therapy Breakthrough: New Drug 'Vyjuvek' Offers Hope for Bubble Bobble Patients

2023-08-09 08:04:00 Yuanqi.com Pan Huaizong “Bubble Bobble” is related to genetic mutation. Before science and technology can repair “wrong genes” (it is already possible), the

The disease commonly known as “Bubble Bobble” in Taiwan is called “Butterfly Baby” in international medical organizations, and its official academic name is “Epidermolysis Bullosa (EB)”. There is a difference, so the reader will also see the name “decomposition” or “dissolution”, which are actually the same.

The rare disease “Bubble Bobble” causes “incomplete skin” when the skin is slightly rubbed

Bubble Bobble patients suffer from unbearable skin ulceration and pain.

This disease is a rare disease with an incidence rate of about one in 50,000. It is a genetic disease and is related to gene variation. Before science and technology can repair the “wrong gene” (now it is possible), the disease is incurable. Patients The skin of the patient is extremely fragile, and as long as it is rubbed by a slight external force, blisters will form (the origin of the name Bubble Dragon). Their people will also face significant mental and economic burdens, considerable torture and pain.

Three types of “Bubble Bobble”

The first is the simple type (EB Simplex): There are 11 mutation genes that can cause this type, which is the most common type. Although the skin will blister after friction or collision, mainly in the epidermis, the symptoms are relatively mild. Blisters are less likely to leave scabs after bursting, and the severity decreases with age.

The second is junctional type (Junctional EB): blisters occur at the junction of the epidermis and dermis. After the blisters heal, they will leave shallow scars and skin atrophy. There are 7 different gene mutations that can cause this type of disease , In addition, nails, teeth and digestive tract mucosa will also appear abnormal.

The third is dystrophic type (Dystrophic EB): blisters occur in the dermis, which is the most serious type. It is simply caused by the mutation of the COL7A1 gene and the body cannot produce type 7 collagen. This type will cause severe skin damage. Atrophy and crusting, fingers and toes stick together and become deformed, the mucous membranes of the mouth, esophagus and gastrointestinal tract are also affected, and nutrition intake is difficult, so it is called “dystrophic type”, and the eyes and urinary tract can also develop Abnormal, high mortality rate, about 3,000 people in the United States suffer from this type of bubble bubble disease.

The dystrophic Bubble Bobble problem is the worst and the eyesight is seriously deteriorating.

The 14-year-old Cuban boy, named Antonio Vento Carvajal, unfortunately suffered from the most severe dystrophic bubble dragon disease at birth. In addition to blisters, contractures and infections on the skin, many problems plagued him. In addition to him, the scars on the cornea of his eyes continued to accumulate, resulting in serious deterioration of vision. During his short 14 years of life, most of them were legally blind, unable to play with children of the same age, happy growing up. In 2012, 3-year-old Antonio and his family were granted special medical visas and came to the United States from Cuba to seek medical treatment. Leaving aside the special skin care part, for the eyes alone, although several operations to remove the scars were performed, all of them failed because the scar tissue would grow back again.

The percentage of wounds completely healed after the application of the new drug “Viuvek” is high

At this time, a company headquartered in Pittsburgh, Pennsylvania, “Krystal Biotech” (Krystal Biotech) just developed a new gel drug that can be applied to the skin for dystrophic bubble bubble disease , the drug name is “Vyjuvek” (Vyjuvek), which can heal the injured skin. And Antonio, a child from Cuba, was also fortunate to join this new drug clinical trial project. The subjects were smeared with “Viuvec” on the wound by the nurse once a week. A total of 31 patients participated. After 26 weeks (about half a year), the proportion of patients who received the new drug application (67%) had three times the rate of complete wound healing compared to those who did not receive the new drug treatment (22%). Due to the good effect, this new drug has been approved by the US FDA in May 2023 for use on children over 6 months old with bubble-balloon syndrome, and the stock price of “Christa Biotech” in the past two months has also increased. It has risen by about 50%, which is a staggering increase.

Gene therapy cures disease by modifying a patient’s defective gene

The working principle of “Viuvek” is: using the modified and reduced activity type 1 herpes simplex virus (HSV-1) as a carrier, delivering the normal COL7A1 gene to the patient’s skin cells, so that the patient’s skin can produce the first Type 7 collagen, and then restore the normal function of the skin to achieve the purpose of healing. Such a localized (only on the skin) gene therapy method does not integrate the DNA of the patient’s whole body cells. It only needs to directly deliver the correct gene to the nucleus of the skin cells, which is easier to avoid the immune system. Herpes simplex virus type 1 was chosen as the vector because it has more room in its genome to deliver larger genetic sequences, and the virus is also very efficient at entering cells and delivering its genetic material. When patients use this gel, the most common side effects are itching, chills, redness, rash, cough, and runny nose, among others.

Since Antonio’s use of this topical skin gel to heal skin wounds is quite effective, his doctor, Professor Alfonso Sabater of the University of Miami Eye Institute, had a whim to use the same method to transfer viruses carrying the correct gene. Reconfigure it as eye drops to heal the eyes of little Antonio, maybe it can make him see the light again. So without hesitation, I immediately contacted “Christa Biotechnology Company” and asked them to prepare special eye drops (the eye drops contain the same ingredients as the new skin drug gel, but the gel is not added). Unexpectedly, in addition to receiving strong support from the company’s founder and R&D president, Dr. Suma Krishnan (Suma Krishnan), in addition to configuring special eye drops, it also obtained FDA approval for sympathetic use of this drug to treat eyes. In the summer of 2022, Antonio’s right eye first underwent scar removal surgery, and then he was treated with eye drops. As predicted, the scar tissue did not grow back. Therefore, his right eye vision is currently close to perfect, at 20/25 ( equivalent to a visual acuity of 0.8).

Encouraged by the success of his right eye, Dr. Sabat began to treat Antonio’s left eye in 2023. Although his left eye has more scar tissue than his right eye, the health of the eye is improving steadily, and his vision has reached With 20/50 (equivalent to a vision of 0.4), he is now free to go out and enjoy the typical teenage outdoor activities and play computer games with friends. Since the new skin gel drug was approved by the US FDA in May, if there are other sick children who need eye treatment, they can be prescribed directly by the doctor now, and there is no need to apply for sympathetic treatment approval, because “adaptation” can be cited “Off-Label Use” (Off-Label Use), much more convenient.

The price of new drugs is about NT$20 million per year

At present, the price of Vyjuvek is quite expensive. The annual cost of each patient is about 631,000 US dollars, which is equivalent to nearly 20 million NT dollars, which is really a heavy burden. But putting aside the price for the time being, the scientific community uses gene therapy to modify the defective genes of patients to cure diseases, which is definitely a correct and exciting road.

【references】

1. British Daily Mail, July 24, 2023, senior health reporter Cassidy Morrison, title: Blind boy, 14, has his vision restored by eyedrops that use inactivated HERPES VIRUS in potential breakthrough that could help millions.

genetic mutation bubble pop herpes simplex immune system

Gene Therapy Breakthrough: New Drug ‘Vyjuvek’ Offers Hope for Bubble Bobble Patients