The child's growth and development are lagging behind, neither looking up nor turning over. Through genetic testing, he was diagnosed with Menkes

On June 6, 2019, Xu Wei's second child, Xu Haoyang, was born

Menkes is a rare congenital abnormal copper metabolism disorder that is mostly seen in boys

Genetic mutations limit the ability of menkes to absorb and utilize copper from their diet, and they generally live no more than three years

In order to save his son, Xu Wei made his own compounds at home to delay the development of his son's condition, and Xu Wei was also known as the "father of the medicine god"

After Hao Yang's third birthday, Yunzhou Biology, Blueprint Biology and 920 Hospital jointly completed gene therapy

Recently, Xu Wei announced in a weibo post, "The child has finally completed gene therapy and has been improved

"I don't recommend that you replicate my experience

Image source: Figureworm.

Wait for a miracle

After the child diagnosed Menkes, Xu Wei once took HaoYang to try cocktail therapy, using a special method to mix a variety of drugs evenly and supplement trace elements, but there was no obvious effect

Internationally, copper histamine supplementation is often used as a symptomatic treatment for Menkes

In order to "race against time", Xu Wei converted the utility room in his home into a laboratory

The scientific community is increasingly rich

Subsequently, Xu Wei and the parents with medical backgrounds in the patients completed the preparation

After establishing a laboratory for Hao Yang, Xu Wei initiated a person's gene therapy

Gene therapy refers to the introduction of foreign normal genes into target cells to correct or compensate for diseases caused by defective and abnormal genes to achieve the purpose of

Yunzhou Biological Official Micro shows that in October 2021, Lan Tian, the founder of Yunzhou Biology, learned about Xu Wei's situation and hoped to provide Haoyang with a gene therapy attempt

In order to allow Hao Yang to try gene therapy as soon as possible, Yunzhou Biology cooperated with Blueprint Biology, which developed gene drugs, and realized the first attempt
at gene therapy for Menkes syndrome shortly after Hao Yang's third birthday.
With the assistance of 920 Hospital, the IIT (Investigator-Initiated Clinical Study) of Kunming Hop heson Hospital was officially launched
.

920 Hospital, Blueprint Biology and Yunzhou Biology have told Xu Wei that IIT, as a research clinical project, has certain unknown risks
.
But Xu Wei still insisted on trying, not only for Hao Yang, he also hoped to provide valuable scientific research data for other Menkes patients through this IIT study
.

Some insiders introduced to the Times Weekly reporter that many rare disease drug research and development are led
by patients.
For example, the legendary story of drug research and development for Pompeii disease has been adapted into the movie "Good Medicine", which tells the story of a father who uses the $100 million raised to set up a pharmaceutical company and develop drugs from scratch to save his children
.
The development of the drug has ultimately benefited many Pompeii patients
.

"Hao Yang is now lying flat on the bed, and he can turn his head very easily
.
" This made Xu Wei feel happy, but his heart was still hanging, "Because it is the first case of Menkes in the world to receive gene therapy, I am not sure how long the drug effect will last, and now it seems that it has been slowly improving
.
" Next, just wait
.
”

An experience that is difficult to replicate

Xu Wei's story was spread, amplified, and moving
.
Reality also has voices of
concern.

"His experience cannot be copied, nor can it be copied
.
" Pei Lidong, head of the global new drug intelligence database and director of biomedical products at Wisdom Bud, introduced to the Times Weekly reporter, "Pharmaceutical work is a scientific process that requires a high degree of knowledge and conditions, if his experience is copied, people with insufficient medical knowledge will engage in drug research work, which will cause serious consequences, and there may be a large number of uncontrollable adverse reactions
.
" ”

The above-mentioned industry insiders also told the Times Weekly reporter, "Xu Wei's experience affects other rare disease patients and family members, and they may also contact pharmaceutical companies to develop genetic drugs
.
" ”

For example, the person once encountered a company that asked for 2 million yuan from the families of rare disease patients, claiming that drug research and development must be successful, "Many rare disease patients' families are very anxious, and they feel that drug research and development seems to be not so difficult, but there are many risks and gray areas
involved behind this.
" ”

It is undeniable that patients with rare diseases face the dilemma of difficulty in medication and even no availability of
drugs.
According to the 2022 China Rare Disease Industry Trend Observation Report (hereinafter referred to as the "Report"), there are more than 7,000 known rare diseases in the world, and only 5% of rare diseases have effective treatment methods
.

According to the report, in May 2018, China's "First Rare Disease Catalogue" collected 121 rare diseases, of which 86 had therapeutic drugs in the world and 77 had therapeutic drugs
in China.
At present, China's rare disease drugs are mainly generic drugs and overseas imports, and the enthusiasm for innovative drug research and development is insufficient
.

"The basic research on rare diseases in China started late, and it is difficult to transform from research to transformation; Lack of protection and incentives for drug development for rare diseases at the legal level; The rare disease market and payment environment are also unclear
.
Ma Tao, secretary general of the Pain Challenge Foundation, analyzed to the Times Weekly reporter that the core of promoting the research and development of rare disease drugs is to start from the policy level, so that more resources can be tilted to the basic research and research of rare diseases, including patent exclusivity, pricing, payment, and improving the level of diagnosis and
treatment.

Pei Lidong said that the innovation power of pharmaceutical companies is not high, mainly due to the fact that the return on investment is not proportional
.
In his view, breaking this situation requires relevant departments to introduce incentive policies in drug approval; On the other hand, it is necessary to improve the insurance compensation mechanism for rare diseases, and in addition to medical insurance, multiple channels such as state subsidy commercial insurance can be used to make up for the reimbursement of
orphan drugs.
"Only by providing sufficiently preferential payment policies can we fundamentally reverse the situation of rare disease research and
development.
" Pei Lidong said
.

"Some rare diseases do not have commercial development value, and patient organizations can drive upfront research
on their own.
After obtaining the data in experimental animals, clinicians were sought to initiate clinical studies
.
In the next step, Xu Wei plans to set up a shared laboratory, "Patients with needs can contact me
through Weibo.
" ”