Deviating from the treatment guideline for the orphan drug eculizumab for patients with aHUS has saved 17 million euros in healthcare costs. This has been shown by the doctoral study of Kioa Wijnsma, theme Renal disorders, which she will defend on 8 March. The results of her study pave the way for more research into reducing the costs of administering expensive drugs to treat rare diseases.The lives of patients with atypical hemolytic uremic syndrome (aHUS), a severe kidney disease, changed drastically with the availability of the orphan drug eculizumab in 2011. Eculizumab is a very effective drug, but also one of the most expensive in the world. According to the manufacturere, the drug must be administered every two weeks for life, which costs up to €500,000 per patient per year. However, there is hardly any scientific substantiation of this recommended dosage and use of the product.
Dose reductionKioa Wijnsma discovered that the levels of the drug in the blood of patients that were treated with exulizumab according to the manufacturer’s instructions were seven times higher than necessary. A small-scale study of 20 patients showed that the dose could be drastically reduced. In 17 of the patients, the treatment could be stopped entirely. The other three patients received a reduced dose. In five patients, the aHUS returned after some time, after which the treatment was resumed and could later be stopped again. This did not result in chronic kidney damage.
Cost reductionSince the amendment of the Dutch guideline in 2016 according to Wijnsma's insights, over €17 million in healthcare costs have been saved. According to data from the Dutch Healthcare Authority, the expenditure on such expensive drugs amounted to more than €2 billion in 2017. In terms of total costs per patient for such drugs, eculizumab is in sixth place. According to Wijnsma, her study can serve as an example for research into more efficient use of other orphan drugs, independent from the pharmaceutical industry: “Collaboration between patient organizations and medical specialists makes it possible to develop a unique, modified treatment scheme and to evaluate it together on the basis of a national study.”
CUREiHUS studyFor patients with aHUS, eculizumab treatment is now reimbursed by their health insurance as part of an ‘orphan drug arrangement’. A prerequisite for this arrangement is that the patients participate in the CUREiHUS study. The aim of this study is to select the most optimal dose for all patients. The researchers also look for markers in the blood that can predict whether an aHUS patient will relapse if treatment is stopped. A definitive cost-effectiveness analysis will take place after completion of the CUREiHUS study in 2020.
About aHUSIn aHUS, the complement system, part of the immune system, is disrupted. This complement system is activated in response to infections, but in people with aHUS this system remains permanently active. This causes damage in the body, including the small blood vessels in the kidney. This can eventually lead to chronic kidney failure. However the disease is extremely rare. In the Netherlands, about five children and 15 adults are diagnosed with aHUS annually. Most patients have a genetic predisposition for the disease.
Related news items
Hans van Bokhoven newly elected in Academia Europaea22 August 2019
The Academia Europaea is a functioning European Academy of Humanities, Letters and Sciences, composed of individual members.read more
Drug-induced interstitial lung disease in advanced breast cancer patients receiving everolimus22 August 2019
In Targeted Oncology, Annelieke Willemsen, Carla van Herpen and colleagues, showed that pulmonary function test with diffusion capacity of the lungs for carbon monoxide and serum biomarkers can be of aid to differentiate everolimus-related interstitial lung disease from other respiratory problems.read more
Publication in PNAS on dissecting EEC syndrome using single-cell RNA-seq22 August 2019
PhD candidates Eduardo Soares and Quan Xu in Jo Huiqing Zhou’s group in Molecular Developmental Biology, theme Reconstruction and regenerative medicine, have published a paper in PNAS on the disease mechanism of EEC syndrome using single-cell RNA-seq technology and patient-derived iPSCs.read more
Patient trust and participation in cell biological research21 August 2019
Alessandra Cambi and Gert Olthuis, discuss key ethical issues inherent in the development and the value of building trust and trustworthiness.read more
NWO grant for a tissue-generating patch to close diaphragmatic defects21 August 2019
Willeke Daamen and Toin van Kuppevelt, theme Reconstructive and regenerative medicine, were recently awarded a 690 k€ grant by NWO, domain Applied & Engineering Sciences, for the development of advanced patches for closure of diaphragmatic defects in children with congenital diaphragmatic hernia.read more
Front cover Human Mutation21 August 2019
The MetaDome web server build to interpret genetic variants based on genetic tolerance and homologous protein domains is featured on the Cover of Human Mutation. MetaDome was developed by Laurens van de Wiel, Coos Baakman, Daan Gilissen, Joris Veltman, Gert Vriend and Christian Gilissen,read more