The Ethics Blog

A blog from the Centre for Research Ethics & Bioethics (CRB)

Tag: rare diseases

When established treatments do not help

stethoscope
27 April, 2021 / / 0 Comments

What should the healthcare team do when established treatments do not help the patient? Should one be allowed to test a so-called non-validated treatment on the patient, where efficacy and side effects have not yet been determined scientifically?

Gert Helgesson comments on this problem in Theoretical Medicine and Bioethics. His comment concerns suggestions from authors who in the same journal propose a specific restrictive policy. They argue that if you want to test a non-validated treatment, you should from the beginning plan this as a research project where the treatment is tested on several subjects. Only in this way do you get data that can form the basis for scientific conclusions about the treatment. Above all, the test will undergo ethical review, where the risks to the patient and the reasons for trying the treatment are carefully assessed.

Of course, it is important to be restrictive. At the same time, there are disadvantages with the specific proposal above. If the patient has a rare disease, for example, it can be difficult to gather enough patients to draw scientific conclusions from. Here it may be more reasonable to allow case reports and open storage of data, rather than requiring ethically approved clinical trials. Another problem is that clinical trials take place under conditions that differ from those of patient care. If the purpose is to treat an individual patient because established treatments do not work, then it becomes strange if the patient is included in a randomized study where the patient may end up in the control group which receives the standard treatment. A third problem is when the need for treatment is urgent and there is no time to approach an ethical review board and await their response. Moreover, is it reasonable that research ethical review boards make treatment decisions about individual patients?

Gert Helgesson is well aware of the complexity of the problem and the importance of being careful. Patients must not be used as if they were guinea pigs for clinicians who want to make quick, prestigious discoveries without undergoing proper research ethical review. At the same time, one can do a lot of good for patients by identifying new effective treatments when established treatments do not work. But who should make the decision to test a non-validated treatment if it is unreasonable to leave the decision to a research ethical board?

Gert Helgesson suggests that such decisions on non-validated treatments can reasonably be made by the head of the clinic, and that a procedure for such decisions at the clinic level should exist. For example, an advisory hospital board can be appointed, which supports discussions and decisions at the clinic level about new treatments. The fact that a treatment is non-validated does not mean that there are no empirical and theoretical reasons to believe that it might work. Making a careful assessment of these reasons is an important task in these discussions and decisions.

I hope I have done justice to Gert Helgesson’s balanced discussion of a complex question: What is a reasonable framework for new non-validated treatments? In some last-resort cases where the need for care is urgent, for example, or the disease is rare, decisions about non-validated treatments should be clinical rather than research ethical, concludes Gert Helgesson. The patient must, of course, consent and a careful assessment must be made of the available knowledge about the treatment.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Helgesson, G. What is a reasonable framework for new non-validated treatments?. Theor Med Bioeth 41, 239–245 (2020). https://doi.org/10.1007/s11017-020-09537-6

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Rare diseases need international research infrastructure

20 January, 2015 / / 0 Comments

Pär SegerdahlThere are a few thousand diseases that you never heard the name of. They affect so few people and have no names in the common language.

These diseases are usually called rare diseases (or orphan diseases). They often (but not always) have genetic origin. They often affect children, are disabling and can even be life-threatening, and in many cases organ systems in the body degenerate.

Because the diseases are rare, they are difficult for doctors to diagnose. Even if one manages to make a diagnosis, treatments are often lacking. It’s hard to do research and develop treatments when the patient groups are small and scattered across the world.

In recent years one has begun to prioritize research on rare diseases, not least in the EU. A background to this trend is the development of biobank research. It starts to make it possible to do research on rare diseases, even though the patient groups are small and scattered across the world.

How? Since one can collect samples and data from such patient groups in biobanks that are linked with each other in international networks. Biobank networks thus give researchers access to large enough material to identify genetic and other origins of rare diseases. In this way, one can begin to develop diagnoses and treatments for small patient groups spread across the world.

In an article in the Journal of Biorepository Science for Applied Medicine,

twenty researchers, among them Mats G. Hansson, describe trends in research on rare diseases. They mention several international biobank networks developed to make such research possible, and describe the challenges that they have to deal with.

One challenge is to develop a common standard for how to, for example, document and code samples for rare diseases. Otherwise it is difficult to locate relevant samples in biobanks in different parts of the world and use them in research. One also needs to link the samples to electronic health records. Otherwise, the patterns behind the diseases will not be visible to the research.

Another challenge is that ethical review and governance operate at a national level, and often in different ways in different countries. In one case, mentioned in the article, where the researchers needed to use data from 130 patients from 30 different countries (and collaborate with 103 clinical centers), it took two years to get ethical approval of the project.

The project was not ethically controversial: 97% of the ethical review committees approved the project without requiring changes or further information. The time delay was due to problems of coordination between the governance systems in the different countries.

Another challenge mentioned in the article is to make researchers, doctors and patients aware of the existence of biobanks for research on rare diseases, and the importance of contributing to these biobank networks by collecting samples and updating databases.

The trend to link biobanks in networks has been clear for a while, even independently of the research on rare diseases. But this research really highlights a key feature in today’s biobanking: its infrastructural nature. Research on rare diseases, needing data from patients spread across the world, can therefore also likely accelerate the development of biobanks as infrastructures for future research.

Pär Segerdahl

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