Rare diagnoses, follow-up of rare diseases. Medicines 4.2/5 (5)

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Rare diagnoses, rarity, orphan diseases

The definition of rarity is different

EU and Norway (since April 2019): Fewer than 1 per 2.000 persons (reference: The Norwegian Health and Care Ministry)

  • Previously, the Norwegian definition of "Congenital condition" was less than 1 per 10.000
  • The practice in Norway is that NAV / HELFO (the authorities) have not demanded that the condition be congenital. However, it is required that the disease is rare, severe, chronic and stable to trigger some social security benefits.
  • Rare diagnoses include approx. 7000 conditions in Norway, of which approx. 80% are genetic
  •  Some rheumatic diseases defined by NAV / HELFO as rare (please see below)

Within the United States: Less than 1 per 1.500 people (less than 200.000 people in total in the U.S.)

Examples of rare rheumatic diseases

Antisynthetase syndrome, Autoinflammatory fever syndromes, Eosinophilic fasciitis, Felty's syndrome, Kikutchi, Kimura's, MCTD, Myositis, Stills disease (Juvenile og Adult form), Systemic sclerosis, Vogt-Koyanagi-Harada, Behcet's disease, Castlemann's disease , Churg-Strauss (EGPA), Cogan's syndrome, Erdheim-Chester disease, IgG4 related diseases, Kawasaki syndrome, Microscopic Polyangiitis (MPA), MoyaMoya disease, Polyarteritis nodosa (PAN), Relapsing polychondritis, Schnitzler's disease , Takayasu arteritis , Wegeners granulomatosis (GPA), (List is not complete).

Delayed diagnosis of rare diseases

Conflicts with more common illness can lead to:

  • The medical investigation will be prolonged and costly
  • Patients experience uncertainty
  • The diagnoses are made late in the course of the disease
  • Targeted treatment is started late

Centralization of services for rare diseases

Patients with rare conditions often receive the best help where the professional environment is greatest.

  • University hospitals usually have the most expertise in each health region
  • There are several advantages to centralizing the investigation and treatment
    • Education of doctors and specialists in rheumatology is taking place largely in the major hospitals
    • Research on rare diseases is important for building more skills
  • However, disadvantages due to centralization are also important
    • Distance to home
      • Long journey
      • Some may be too ill for transportation
      • Far from family and friends

High drug costs

Many with rare autoimmune connective tissue disorders og Vasculitis are treated with immunosuppressive drugs that were actually developed for more common diseases. When the drugs are used in large numbers (against common conditions), production costs and retail prices decrease

  • One can now develop and "tailored" drugs that have a good effect also when traditional treatment fails in rare, rheumatic diseases

However, it is a societal principle that all patients should have as equal treatment options, regardless of diagnosis as possible.

Aid for pharmaceutical industry that will develop drugs for rare diseases

  • Development of so-called "Orphan drugs" are supported by the US and EU authorities
  • Patent rights are often extended so that production costs can be covered over a longer period of time
  1. NAV / HELFO provides support in Norway for some expensive drugs for rare connective tissue diseases and vasculitis according to the usual "Blue prescription" (§ 2 in Blue-prescription regulations).
  2. More and more drugs have been added to the H-prescription (§ 1b). The regional health enterprise where the patient lives covers these medicines H-prescription, (§ 1b) printed by specialist (please see more below)
  3. If the medicine is not on the usual "Blue prescription", any doctor can apply for individual approval of support (§ 3 of the Blue Prescription Scheme).

Blue recipe in Norway

Section 2 of the Blue Prescription Scheme does not cover all relevant drugs and usually does not cover rare diagnoses.

Individual benefits for non-pre-approved medicines are then relevant to apply for.

The provision in § 3 can be used when a serious illness is not mentioned in the reimbursement list - in practice this is interpreted to apply to rare diseases  or diseases where severity makes them rare. H-prescription is now relevant for some of these. When H-prescription is not relevant:

  • Up to 2017-2018 patients with rare rheumatic diseases have e§ 3a and 3b received reimbursement for drugs on the market and non-marketed drugs. In the event of a refusal, §5.22 has made it possible to cover part of the expenses. In retrospect, HELFO, in assessing individual applications, has emphasized reimbursement only if there are high-quality research studies in practice ("randomized and controlled trials, RCTs") that confirm that the drugs are useful. The problem with rare diseases is that such studies are rarely performed in rare conditions. It is simply too few patients. Thus, patients with rare diseases are denied support for medication expenses, even if the treatment is professionally recommended, equivalent alternatives do not exist and the treatment would probably have been approved for similar more common diseases where RCT studies have been done.

The application shall contain

  • Information on why treatment with pre-approved drugs is insufficient
    • Lack of treatment effect
    • Side effects
    • No current treatment options
  • Occurrence of disease less than 500 persons in Norway (prevalence less than 1: 10.000)
  • The severity rate makes the condition rare
  • The disease is in a long and stable phase
  • Attachment of scientific literature supporting treatment options
    • Randomized, controlled studies are preferred
    • The patient must have consented to the application

H prescriptions

Some medicines are covered by the health authorities, even though they are used outside hospitals. This applies, among other things, to many biological drugs. Please read about H-prescriptions here (Health Norway)

Coverage of dental expenses

Patients with rare diseases (Rare medical condition = smt) may in Norway get a portion of the expenses for the required dentistry covered


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