Rare diagnoses, follow-up of rare diseases 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 get the best help in the field of healthcare

  • University hospitals usually have the most expertise in each health region
  • In Norway, Oslo University Hospital (OUS) aims to be "the last chance" when rarity or special complications cause problems
  • After the distribution of functions with the Diakonhjemmets hospital in Oslo Rheumatological department (OUS), Rikshospitalet developed specialist expertise on them autoimmune (Inflammatory) connective tissue disorders and systemic vasculitides. Diakonhjemmet hospital has correspondingly increased competence in other rheumatic diseases
  • Rheumatology Department, OUS, Rikshospitalet in Oslo, primary responsibility for autoimmune (inflammatory) connective tissue diseases and systemic vasculitis for patients residing in Oslo and regional responsibility for the health region of South-East
    • Patients from the rest of the country are received as far as the capacity allows
    • Cases that, due to severity and complexity, can not be treated locally will be given priority
  • 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 following 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 drug is not on the usual “Blue prescription”, any physician can apply for individual approval of support (§ 3 in the Blåreptpt scheme).

Blue recipe in Norway

§ 2 in the Blårespt scheme does not cover all current medications and does not usually include rare diagnoses.

Individual support for non-pre-approved medicines is then relevant to apply

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.

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

Children with rare diagnoses

Department for Juvenile Rheumatology at OUS, Rikshospitalet in Oslo investigates and treats rare, autoimmune (inflammatory) rheumatic diseases og autoinflammatory, periodic fever disorders

Literature


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