(People’s Daily Health Client Reporter Wang Zhenya) “Save the alport (hereditary progressive nephritic syndrome) group!” Since April 23, the People’s Daily Health Client has received information about the treatment dilemma of Alport syndrome within two days. There are more than 200 messages for help. So far, there is no specific drug for Alport syndrome, only drugs to delay the disease, and eventually most patients will go to kidney failure and can only rely on dialysis to maintain their lives. Patients are eager to speed up the development and launch of new drugs to treat the disease.
Ding Jie, member of the National Committee of the Chinese People’s Political Consultative Conference, chairman of the Rare Disease Branch of the Beijing Medical Association, and professor of pediatrics at Peking University First Hospital, introduced that Alport syndrome is a hereditary progressive kidney disease. Because of the hereditary nature, the patient’s family often has similar symptoms for generations.
Many patients seek help: family generations have been diagnosed with Alport syndrome p>
In Neihuang County, Anyang City, Henan Province, a family was plagued with kidney disease. For 4 consecutive generations, 12 family members suffered from Alport syndrome, and 10 of them died of the disease before they were over 40 years old. The youngest patient in the family, the 12th patient, is the first college student in the fourth generation of the family.
“This disease has affected four generations of my family. My father and four uncles have passed away because of this disease, and now my three children have also been diagnosed.” Lin Hai (pseudonym) family also suffered from the disease. With this rare disease, she sadly asked the People’s Daily health client reporter for help, who will save our unfortunate family.
Alport syndrome is currently diagnosed in 140,000 people in my country, and about 25% of normal people carry the alport mutation.
“We are a newly married couple. The child had swollen eyelids once, and was diagnosed with alport syndrome a5 gene mutation after genetic testing.” Zhao Lin (pseudonym) told reporters that our world is dark, then For a moment, it felt like the sky was falling, and there was no hope.
Like Zhao Lin, many parents often wash their faces in tears when they learn that their children have been inherited with the disease. Ouyang Song (pseudonym) said that his 30-year-old lover died of kidney failure due to this disease, and he passed it on to his two daughters. When he was in kindergarten, the daughter started to urinate blood. I was alone with the baby, and I really broke down. What is the fate of our family? So…
Many new drugs are still in development around the world
Alport syndrome is a kidney disease, but it not only causes renal insufficiency, but also Can cause eye, ear and other diseases. Common symptoms include hematuria, proteinuria, renal insufficiency, deafness, and abnormal eyes. At present, there is still no specific drug for the treatment of the disease on a global scale, and only drugs can alleviate the disease progression.
“Because this rare disease is caused by a gene mutation, it is not possible to correct the patient’s gene. However, the development of the disease can be controlled through drugs.” Ding Jie said that through drugs, the disease progression rate of patients can be slowed down and delayed There are ten years. Once the patient develops uremia, the patient needs dialysis, kidney transplantation and other methods to maintain life.
Globally, there are 7 clinical trials underway in the field of Alport syndrome. These include: 1 small molecule trial in Phase 1, 2 small molecule trials in Phase 2, 1 small molecule trial in Phase 3, and 1 in other phases (not applicable or unknown) One small molecule drug trial and two other types of trials.
Professor Ding Jie as the Chinese leader of the global multi-center Alport syndrome new drug early clinical trial (Phase II) was launched in August 2020, marking the simultaneous development of the Alport syndrome new drug clinical trial project in China and the world . The research is currently in progress. There are not many studies like this in China. Once the research is successful, domestic patients can use new drugs as soon as possible like foreign patients.
Reference materials:
①”Progress in the diagnosis and treatment of Alport syndrome”. “Journal of Rare and Rare Diseases”, Vol. 29, No. 1, January 2022 Issue 150.
②”Clinical manifestations and progress in diagnosis and treatment of Alport syndrome”. “Journal of Rare and Rare Diseases”, Volume 29, Issue 4, Issue 153, April 2022