[William Zabka Kids]Rare patient dilemma,Parents have helpless: The high price medicine has become close to the people?

release time: 2021-06-28 01:27:00

  AMBER FREED is a stock analyst,After her son, Maxwell, diagnosed a rare child after sexual epilepsy,She resigned from work.Then she set up the SLC6A1 Connect Foundation (hereinafter referred to as “Connect Fund”),Special funding of gene therapies,The SLC6A1 gene defect is the crux of her son’s disease.

  2020,Researchers funded by the Connect Fund, the University of Van Tebmer, Kang Jingqiong (transliteration,Jing-qiong kang) found thatPhenylglycerol (brand name ravicti),A drug used to treat urea circulation metabolism,Some cell defects in a small white mouse carrying the Maxwell variant gene can be helped.

  This news is like a timely rain, and Fried is happy,Because many patients like her son have a seizure from the age of 4.And at this time, her son was 3 years old.More gratifying,Ravicti has been approved by the US FDA,therefore,The doctor seems to be able to take directly to the treatment.

  however,Ravicti is one of the most expensive medicines in the world.If you rely on it to treat this rare disease,The annual cost will reach $ 740,000 (about RMB 4.73 million).High prices let people look,And this rare disease is not within the scope of application of the drug.


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  Coincidentally,Juno, a daughter, who was Charlene Son Rigby, was found to carry rare STXBP1 variants in 2016.This gene can lead to epilepsy, autism, and intelligence and physical disorders.In 2017,Rigby created a StXBP1 Foundation,It is used to promote research on potential gene therapies and other treatment methods.

  2018,The New York Wilcomona Medicine (Weill Cornell Medicine) came to the research team headed by Jacqueline Burré.The team in brain cells and beautiful hiped nectaries (C can be carried with STXBP1 variant genes (C. A molecule called 4-phenylbutyrate sodium salt is tested in Elegans.And found thatThis molecule can improve the damage caused by genetic variation.In the current drug,Sodium phenylbutyrate and Ravicti contain this molecule.

  Pediatric Neurologist Zach, Zach, Zach, is an urgent to try to use Ravictt to treat diseases caused by STXBP1 variants.It has no choice but to the specification of the Ravicti approved indication.This means that high drug prices can only be borne by the patient.Insurance companies will not give a claim.therefore,He began to organize the clinical trial of Ravicti on patients with StXBP1 barriers.

  Pity with the same disease

  More than 7,000 rare diseases worldwide,Among them, there are less than 200,000 patients in the United States.But all rare patients add up,This number reached 25 million to 30 million people.But many rare diseases are too rare,Unable to attract pharmaceutical companies to develop interests against these diseases,Because research and development of a new drug may take decades, billions of dollars.

  In this context,People began to hop the treatment of money and time costs in “new use”.

  Fried and Rigbi’s fund have the same appeal,They all want to study whether “old” drugs like Ravicti can help their children through funding clinical trials.It is hereby collected enough data sufficiency in insurance companies to incorporate such drugs into the scope of insurance payment.

  But such clinical trials are only started.To make the patient to eat this medicine,There is still a lot to do.Because even if the test shows that this medicine is effective for some patients.Insurance companies will not cover this drug only based on small-scale experiments.therefore,Further research is required,Pharmacists also need to agree to the FDA to apply this drug to the treatment of rare diseases.


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  Same encounter,Let Fried and Rigbi be taken.The two sides decided to cooperate to support the study of SCOTT Demarest, the Children’s Hospital Colorado Pediatric Neurologist.The study will test Ravicti tolerance and safety in 10 of children who carry STXBP1 variants and 10 children who carry SLC6A1 variant genes.And observe whether there is improved symptoms such as epilepsy, brain activities, exercise disorders, sleep and quality of life,In order to help future research.The study is expected to be announced in 2022.

  How far is the end of the tunnel

  The announcement of laboratory data has enabled some patients to try drugs associated with Ravicti and phenylbutyrate (in the United States are Buphenyl this medicine).

  E.g,Start this year,Leyla Vardar, Leyla Vardar, made her sodes with Slc6a1 variant genes, was tabulated with sodium Axel.When you start using the medicine,Axel suffered severe headache and other side effects.However, in the three months after the doctor reducing the dose,Axel has an amazing body function and intelligence.Not only the reading ability is improved,More interactions with parents and people.Waldal said: “This is our first time to see his ability is strengthening.Instead of gradually losing a certain ability.”

  To buy this medicine,Waldal is cost 1 every year.20,000 US dollars (approximately RMB 7.70,000 yuan).But if it is in the United States,The amount will be much more than these,Because the United States only has skyline treatment companies (Horizon therapeutics,HT) A sale of Ravicti and Buphenyl.In 2015,HT will follow the two drugs from another company.The price of Ravicti is raised to the original three times.The annual cost of treating disease with Buphenyl is also increased from the original 4 to 130,000 US dollars (about 26-830,000 yuan) to 24.$ 30,000 (about RMB 1.55 million).

  In the case of being asked and improving the drug price,HT said: “The company will adjust the drug price according to multiple factors.Including research costs investing in increasing current therapeutic effects,And the cost of developing new drugs for treating rare diseases.”In addition,The company also pointed out thatThey have expanded Ravicti’s applicable age range, providing free genetic testing for patients with abnormal urea cycle metabolism.And provide economic assistance for patients needed.

  In fact,Some economists question whether the cost of Ravictti trials in StXBP1 and SLC6A1 gene carriers should be borne by the patient’s family.


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  Ravicti has brought 11 for HT.The income of $ 500 million (about RMB 7.4 billion).University of Southern California Medical Economics William Padula believes thatMake money with this,You can support this company to develop the next new drug.

  ”Considering the drug price,It is expected to provide funding for their research and development at this time.Not dependent on their income from Ravicti,It seems to be unfair.Padura said.

  HT said in a statement,At present, Clinical trials for Ravicti are designed to assess their tolerance, safety and pharmacokinetics (absorption, distribution, metabolism and excretion) for StXBP1 or SLC6A1 gene carriers.Not its effect.What is the result of the test,Will decide the next movement “.

  ”For our drug use,For StXBP1 or SLC6A1 gene carriers,There is no data on efficacy or security now.These clinical trials originated by researchers,The purpose of its research is to determine if the potential effects of these drugs on rare diseases are greater than the potential risks.”HT said.

  Rigbi is very grateful to HT is willing to actively cooperate with this clinical trial.Although she had to face a very cruel reality: her daughter Juno is due to the symptom of epilepsy.This test will not be involved.

  In view of the reduction of epilepsy, the number of tests that the test drug has the most obvious effect,Therefore, patients with clinical trials requires a significant epilepsy.

  despite this,Rigbi still fully supports and advances the clinical trial,Only verifying the test drug is indeed effective.They can persuade HT and insurance companies to make Ravicti become “close medicines” that Juno and other patients eat.

  Rigby said: “This is our only way out,So I can only go all out.”

  Original Source: Stat News

  Original title: The Parents Hoped An EXISTING Might Keep Their Kids from Having Seizures. THEY SAW THE PRICE

  Source: @ 健

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