Rare diseases: No diagnosis or the most expensive drug in the world?

Rare diseases: No diagnosis or the most expensive drug in the world?

Last Updated on March 16, 2024 by Joseph Gut – thasso

March 15, 2024 – On the occasion of International Rare Disease Day on February 28, the Swiss Foundation for People with Rare Diseases drew attention to the current challenges and needs of those affected.

In Europe, a disease is considered rare if it affects no more than 5 out of 10,000 people. Each rare disease is rare in itself, but there are more than 5,000 of them in total (see extensive databases such as Orphanet), and so are 6-8 percent of the population – around half a million people in Switzerland, the same number as those with diabetes – affected by at least one rare disease. Around 75 percent of those affected are children and young people. Other rare diseases appear gradually in adulthood and could affect any of us. In Switzerland, for example, around 350,000 children are affected by a rare disease.

However, around a billion people worldwide suffer from rare and many more from neglected diseases (so-called tropical diseases) and are at risk of becoming unable to work, blind, disfigured and disabled or dying as a result of them. For Africa, this applies to river blindness, dengue fever, sleeping sickness, snake

Strenomelia (mermaid syndrome)

bites or leprosy as some well-known examples. Unlike malaria, tuberculosis and AIDS, these diseases do not affect industrialized countries, and travelers are rarely at risk. This is probably why they are neglected from the perspective of industrialized countries.

How are rare diseases defined?

Rare diseases often cause symptoms in childhood, are usually chronic and are often associated with significant impairments in quality of life and life expectancy. For the most part, these are genetic diseases with complex and difficult-to-interpret symptoms, the diagnosis and treatment of which represent major challenges. On average, it takes 6 to 8 years before people with a rare disease receive the correct diagnosis and thus access to appropriate therapy. Very often those affected visit more than 7 doctors and around 40 percent of patients receive at least one misdiagnosis during this time, and early diagnosis and treatment is often crucial, especially for rare diseases. This makes it all the more important to increase awareness of these diseases and to conduct intensive research into treatment options. In other parts of the world, such genetically rare diseases are less discovered; be it because health systems use genetic analyzes less for cost reasons, or because the partially endemic occurrence masks diseases based on rare genetic bases and/or exhausts medical capacities.

Diagnosis, care and research are difficult

European health systems, including the Swiss, cover many things in an exemplary manner. Nevertheless, they are overwhelmed by rare diseases, be it in terms of diagnosis, care, therapy and research. Therefore, only a fraction of those affected have the correct diagnosis and, based on this, optimal disease management or even effective therapy. Current problems such as bottlenecks in the supply of medication and a shortage of doctors and nursing care particularly affect people with rare diseases, as their concerns are at risk of being lost even more than in normal times.

Rare diseases should be recognized and treated

In recent years, the topic of “rare diseases” has become more and more of a political issue, although unfortunately the needs of those affected are not the focus.

Not a “disease”, but a very rare genetic phenotype. Not treatable.

When the number of patients affected by a rare disease is relatively small, sometimes only hundreds, the financial burden of research is reflected in the price of treatment: it reaches enormous numbers. This article lists the 10 most expensive treatments per patient worldwide. The first three on this list are a) Luxturna (Voretigene neparvovec), which is used to treat adults and children with a certain type of retinal dystrophy (based on a rare mutation in the RPE65 gene). It is a one-time treatment that costs 850’000 US dollars, b) Zokinwy (Ionafarnib), the first and only drug used to reduce the risk of mortality in Hutchinson-Gilford progeria syndrome. Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disorder that affects approximately one in 20 million people. Zokinvy is used twice daily and the annual cost for each patient is more than 1 million US dollars, and finally c) Zolgensma (onasemnogene abeparvovec-xioi), which was approved by the FDA in May 2019 as a novel gene therapy for the treatment of spinal muscular atrophy (SMA) and at the time was the most expensive drug the world had ever seen, priced at 2’125’000 US  dollars. The drug is aimed at children under two years old with SMA, including children who are not yet showing symptoms but have been diagnosed through genetic testing. This is a one-time treatment, i.e. H. SMA is cured with a single treatment, and this fact, according to those involved, justifies the exorbitant price of the therapy.

As the example of Hemgenix (etranacogene dezaparvovec), which was approved at the end of 2022 for the treatment of the rare inherited disease hemophilia, shows, increases are still possible – at a price of an incredible 3.5 million US dollars per syringe.

No diagnosis or the most expensive drug in the world: The dilemma

Given what was said above, this might lead to a slightly modified question on this article: instead of “no diagnosis” it should probably say “diagnosis yes, but no affordable therapy”. On the one hand, we have the so-called “rare diseases”, of which, despite all global research efforts, only a few exist without a diagnosis or completely unrecognized; On the other hand, we have highly complex forms of therapy (often based on genetic procedures) available to treat or even cure such diseases (example: Zolgensma). The dilemma is that the patient in Central Africa, whose rare disease has been correctly diagnosed in the first place, has no chance of receiving appropriate treatment for financial reasons. This may also apply to less privileged populations in northern industrial societies; Solutions are needed here so that rare diseases have equal rights with all other treatable and affordable diseases/therapies. It must not be the case that the patient in Central Africa who is the carrier of the inherited genetic variation that leads to untreatable albinism remains the only person without treatment; Global therapy access programs with solidarity-based financing models must be created here.

Thasso had in the past already several posts (a, b, c, d) concerned with the topic of rare diseases and therapeutic options for some of them. Other than that, you can find here some insights into rare genetic diseases:


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Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

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