A homemade lab in a gym: a father's DIY fight against Menkes Syndrome

In 2021, Xu Wei from Kunming, China, faced a desperate situation when his 2 year old son, Haoyang, was diagnosed with Menkes Syndrome—a rare genetic disorder that affects how the body uses copper, which is essential for brain and nervous system development. It occurs in about 1 in 100k births worldwide, and children with the disease typically don't live beyond 3 years, making Haoyang’s prognosis very bleak.

Treatment options for Menkes Syndrome, such as copper histidine, were not available in China. The COVID-19 pandemic made it even harder to seek medical treatment abroad due to travel restrictions. Determined to save his son, Xu Wei, who had only a high school education, turned his father’s gym into a DIY laboratory. Using translation software, he carefully studied English-language medical documents to learn how to prepare copper histidine by mixing copper chloride dihydrate, histidine, sodium hydroxide, and water. After thorough testing, including trials on rabbits and self-administration, and despite skepticism from friends and the inherent risks, Xu began treating Haoyang. Within two weeks, some improvement was seen in his son's condition. However, copper histidine could only reduce symptoms instead of curing the disease because it could not effectively transport copper ions to the brain.

Undeterred, Xu Wei continued his efforts to create elesclomol, aiming to improve the delivery of copper ions to the brain. He also looked into gene therapy by sending Haoyang’s stem cells for testing. Despite his relentless work, Xu Wei faced significant financial difficulties, relying on savings, credit cards, and loans to keep his laboratory running.

Xu’s innovative efforts gained international attention, leading to a partnership with VectorBuilder Inc., a global leader in gene delivery technologies, and Lantu Biopharma. On August 23, 2022, VectorBuilder and Lantu announced the first human trial of a new gene therapy drug candidate, LTGT06, for Menkes disease. This adeno-associated virus (AAV)-based therapy was given to Haoyang shortly after his third birthday, marking an important step forward in his treatment.

Despite these advancements, the long-term outcomes of Xu Wei’s efforts remain unknown. As of the latest reports, there have been no further updates on Haoyang’s progress or the broader impact of the gene therapy trial. Xu’s relentless pursuit highlights the urgent need for better support systems and treatment options for rare diseases in developing countries.

This story is based on media reports from 2021 and 2022. There have been no subsequent updates on the outcomes of Xu Wei’s treatment efforts as of now.

Adapted from:
https://www.euronews.com/health/2021/11/25/this-father-created-a-home-la...
https://en.vectorbuilder.com/about-us/newsroom/vectorbuilder-supports-fi....
https://www.youtube.com/watch?v=nQQQ5p7Sum0