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Input on proposals on the need for a national funding solution for rare diagnoses

    Our input to the proposal

    The Coalition for Rare Diseases thanks the Norwegian Parliament for choosing to focus on patients with rare diseases. It is the Coalition's view that the current funding system is not sustainable and that it primarily affects patients.

    In connection with the pharmaceutical report and the prioritization report, the funding of medicines for rare diseases was transferred from the National Insurance Scheme to the regional health authorities. At the same time, it was decided that all drugs must undergo a health technology assessment and meet the prioritization criteria. This has proved to have unintended consequences. On the basis of the arguments set out below, the Coalition believes that the representative's proposal can adequately address some of the consequences that have arisen as a result of the Medicines Communication and the Prioritisation Communication.

    The experience of patients, relatives, doctors and the pharmaceutical industry is that it has become more difficult for an already vulnerable group to access new effective treatments coming onto the market. The Prioritisation Communication is well suited to prioritizing major diseases such as diabetes, cardiovascular disease, etc. But it is unfortunate for small patient groups such as rare diseases.

    This applies particularly to the way in which study data are assessed in the HTAs. The Prioritisation Report makes a premise that uncertainty about the effect, interpreted through study data, should count negatively in the decision-making process. Because there are few people in the world with a specific rare disease and it would often be unethical to put people in a control group without treatment, there will naturally be uncertainty in the data. This often results in Norwegian patients being "penalized" for reasons beyond their control.

    Furthermore, measuring the effect of treatment on quality of life is a tool that is well suited for 'traditional and common' diseases, but is limited in its ability to measure change in quality of life in people with rare diseases. This means that the effect of the drug is often underestimated in relation to the actual perceived benefit to patients and may misrepresent the cost-effectiveness than if multiple dimensions of quality of life were assessed.

    The current priority announcement is based on the Magnussen Group's payment ladder, which operationalizes the severity criterion and standardizes how much the Norwegian health care system is willing to pay for a good year of life after the loss of prognosis (how many years of life the patient loses due to the disease). This payment staircase stops after 20 years of life lost and thus neglects the serious rare diseases where patients can lose up to 70 good years of life. There is therefore a need to extend the staircase to reflect a life course with associated willingness to pay for the most serious diseases.

    Furthermore, discounting of future benefits (discounting) of the effect of good life years is currently used. Several treatments are given as a one-off treatment, such as cell and gene therapies where the effect is expected to last a lifetime. For younger patients, this is unfortunate as the effects can last up to 70 years (and often longer). When health benefits are reduced due to discounting, cost-effectiveness is reduced.

    Based on these arguments, the Coalition believes that a separate criterion for rare diseases must be ensured as proposed or that the Prioritisation Communication differentiates between patient groups.

    We also note that regional differences in treatment provision have arisen and that recommended treatment from specialists at Rikshospitalet and other university hospitals is not followed up due to budget constraints. This has come to light in several decisions by the State Governor where the health enterprise's decisions have been overturned. Hospitals and health authorities must prioritize between conventional diseases, consumables, staff and treatment of rare diseases.

    People with rare diseases are a vulnerable group with limited resources, who often lose out against a large system.

    The Coalition therefore believes that it is necessary to raise funding to a national level to ensure equal and equitable treatment regardless of where you live in the country.

    There are several serious rare diseases where the disease course can progress rapidly to irreversible conditions and secondary diseases that can require lifelong treatment and care, and ultimately death. These people are currently being harmed by a slow-moving system that is not adapted to minor diseases. Many people with rare diseases are currently waiting for treatments that are in development or have marketing authorization but are awaiting health technology assessment and funding.

    Against this background, the Coalition believes that there is a need to establish a concrete plan on how to ensure rapid access to new and available treatments for people with rare diagnoses.


    The Coalition believes that the representative's proposal is sound and can help correct unintended consequences for a vulnerable group and asks the Committee to support the proposal.

    If the Committee finds itself unable to support the proposal, we hope the Committee will come up with common remarks that can help raise the issue of rare diseases as a topic for the Priority Communication.

    Briefly on rare diseases

    Rare diseases are defined as a disease that affects 5/10,000 inhabitants. The majority of rare diseases are genetic and congenital. There are currently more than 7,000 different rare diseases with varying incidence and severity; as some are genetic, there is a higher density of some rare diseases in some places. There is currently drug treatment for 5% of the diagnoses, but more and more are being developed, many of which correct the cause and allow the patient to recover. There are currently between 100,000 and 300,000 people in Norway living with a rare disease, although there are many in this "bag", there are very few, often 1-10 people, who have the same disease.

    Developments in the field of rare diseases

    In 1983, the US passed the Orphan Drug Act, which gave drugs developed for the treatment of rare diseases better regulatory conditions than treatments for conventional diseases. This was in recognition of the fact that rare diseases were a neglected group and that incentives were needed to improve treatment provision for people with rare diseases. The EU adopted a similar regulation in 2001 with the same background.

    Norway has historically been known as one of the best countries in the world at providing drug treatment to people with rare diseases. Individual reimbursement through the National Insurance Scheme ensured that people had access to life-saving treatment regardless of where they lived in the country.