Rare Diseases - Diagnosis And Treatment

Rare Diseases: Diagnosis & Treatment

Here, patients with a rare disease and their relatives can find supportive information on diagnoses, treatments, medication, care, support and social support. An overview of important counseling facilities and contact points helps those affected to get the care they need more quickly.

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• Suspected rare disease
• Diagnosis & Treatment
• Which centers of expertise for rare diseases are there?
• Treatment abroad
• New drugs and clinical trials

Suspected rare disease

The following points can indicate a rare disease:

• There are repeated symptoms or combinations of symptoms that are unusual and the cause of which is unclear.
• Common therapies don't work.
• Direct relatives have the same or similar symptoms.

An accurate diagnosis of unclear chronic symptoms is important to

• To get clarity about the complaints and symptoms,
• to find an effective therapy or to improve the quality of life and
• To be able to better assess genetically determined disease risks or the possibility of inheritance.

Diagnosis & Treatment

In the event of unclear complaints and a suspected rare disease, the first point of contact for complaints is a general practitioner or a specialist. If necessary, they should establish contact with a specialized center (expertise center). However, expertise centers also have outpatient clinic hours or consultation hours in which those affected can present their previous findings, usually after prior notification.

Expertise centers are central, highly specialized clinical facilities for defined groups of rare diseases. They are primarily used for initial diagnosis and the setting of any therapies, but can also be used for check-ups and consulted in emergencies. Expertise centers are not a substitute for regional basic medical care; ongoing treatment is ideally carried out close to home.

Which centers of expertise for rare diseases are there?

To date, Austria has designated seven centers of expertise for rare diseases, with two more centers to follow:

Expertise center for rare movement disorders (designation in preparation): Neurology Medical University Innsbruck

Expertise center for genodermatoses with a focus on epidermolysis bullosa: EB House Austria in Salzburg

Expertise center for genodermatoses with a focus on cornification disorders: University Clinic for Dermatology, Venereology and Allergology in Innsbruck

• Expertise center for bone diseases, disorders of the mineral balance and growth disorders (designation in preparation): Pediatrics AKH Vienna / Pediatric Orthopedics Speising / Internal Medicine Hanusch Hospital
• Expertise center for bone and soft tissue tumors: University Clinic for Orthopedics and Traumatology in Graz

Expertise center for cleft lip and palate and craniofacial anomalies: University Clinic for Oral and Maxillofacial Surgery in Salzburg

Expertise center for pediatric oncology: St. Anna Children's Hospital in Vienna

Expertise center for rare pediatric urological diseases: Department of Pediatric Urology at the Hospital of the Sisters of Mercy in Linz

Expertise center for rare and complex epilepsy: Neurology Christian Doppler Clinic Salzburg

Designated centers of expertise have the opportunity to participate as full members in the European Reference Networks for Rare Diseases (ERNs) and to network intensively with experts across Europe. There are currently such networks, in which European patient representatives (ePAGs) are also involved, for 24 groups of rare diseases. Through regular exchange and increased use of telemedicine - where possible - not the patient should travel, but the expertise. For disease groups for which there is currently no designated Austrian expertise center, a number of associated national centers form the necessary interface to the ERNs. A list of these institutions can be found here.

Note The concept for the designation of centers of expertise was developed by the National Coordination Office for Rare Diseases (NKSE) - in accordance with the requirements of the European Commission - and presented in the National Action Plan for Rare Diseases (NAP.se). The designation is based on defined quality and performance criteria.

Centers in the "Rare Diseases Forum" network

In addition to the official expertise centers, there is also an individual initiative for individual clinic locations. The following centers for rare diseases, which belong to the Austrian Network Forum Rare Diseases, can be contacted if necessary:

• Bregenz Center for Rare Diseases:

  Bregenz Regional Hospital

• Center for Rare Diseases Graz:

  Medical University Graz

• Center for Rare Diseases Innsbruck: Innsbruck

  Medical University / Innsbruck University Clinics

• Center for Rare Diseases Linz:

  Kepler University Hospital Linz

• Center for Rare Diseases Salzburg:

  University Hospital Salzburg / Paracelsus Medical Private University

• Center for Rare Diseases Vienna / Vienna Center for Rare and Undiagnosed Diseases (CeRUD):

  Medical University of Vienna

You can find all contacts and forms for online inquiries here.

Treatment abroad

For certain rare diseases, treatment in specialized centers abroad is necessary. The national contact point for cross-border health care (contact point patient mobility), which has been set up at Gesundheit Österreich GmbH since November 1, 2013, provides information on organizational processes as well as pre-approval and reimbursement.

In any case, it is recommended to find out about the requirements for treatment abroad - in particular about the requirement for prior approval and the amount of reimbursement - etc. from the responsible social insurance agency in advance.

New drugs and clinical trials

There is currently no therapy for 95 percent of the approximately 8,000 known rare diseases. The path from the development of a new active ingredient to its distribution takes an average of 15 years and generates costs in the region of 2.5 billion euros.

Before a new drug can be approved by the authorities, it has to undergo several clinical studies. This enables the manufacturer to prove the effectiveness and safety of the new drug.

Clinical studies are subject to very strict ethical and organizational guidelines. If at any stage it turns out that a drug is harmful or even dangerous for humans, the study must be stopped immediately. There are also guidelines for the number of people to be tested. Separate guidelines apply here to drugs for rare diseases (so-called orphan drugs), as the number of patients in this area is often very small.

Clinical testing of a new drug usually takes a long time. By participating in a clinical study, patients with a rare disease have the advantage of being able to be treated with a new drug at an early stage, before its general approval. In addition, study participants are given intensive support as part of the necessary exams.