Patient organisations for rare diseases in Switzerland: ProRaris and Orphanet

Who represents patients with rare diseases in Switzerland

Representation is organised as an alliance rather than a single association per disease. ProRaris, the Swiss rare disease alliance, was founded in 2010 and represents the patient organisations for rare diseases in Switzerland. It gives a collective voice to groups that are individually too small to be heard on their own.

The alliance model follows from the epidemiology. With more than 6,000 known rare diseases and an estimated 7 to 8 per cent of the population affected, a disease-by-disease structure would fragment representation to the point of ineffectiveness.

Orphanet Switzerland as the information layer

Orphanet runs a Swiss national portal covering diagnoses, centres and clinical trials. It is the practical starting point for a patient, a relative or a referring physician looking for structured information on a specific rare disease, and it complements the recognition of centres carried out by kosek.

• Diagnoses: structured descriptions of rare diseases.
• Centres: where expertise for a given disease can be found in Switzerland.
• Clinical trials: what is recruiting, which matters where no authorised therapy exists.

For a disease with no authorised therapy in Switzerland the trial listing is often the most important of the three. It is also where the information layer meets the regulatory one, since a successfully completed trial is the precondition for compassionate use under Art. 9b para. 1 TPA.

What patient organisations actually do

Their work is concrete rather than symbolic. Patient organisations connect affected families, collect experience that exists nowhere else in structured form, help people navigate care and insurance processes, and carry the patient perspective into policy discussions about rare diseases. For very small diseases they may be the only continuous point of contact.

• Connecting affected people and families across cantonal and language borders.
• Collecting and passing on practical experience of living with a specific rare disease.
• Helping patients navigate care pathways and reimbursement procedures.
• Representing the patient perspective in policy discussions on rare diseases.

Much of this work is unpaid and carried by affected families themselves. That shapes what can reasonably be expected of an organisation representing a disease with a few dozen patients in Switzerland, and it is worth knowing before approaching one with a request.

Cooperation with hospitals and recognised centres

Cooperation with the clinical side works best where roles are clear. A kosek-recognised centre provides diagnosis and treatment; the patient organisation provides continuity, peer contact and practical navigation between appointments. Neither substitutes for the other, and patients typically need both at different points in the pathway.

Language is a practical part of this in Switzerland. An organisation covering a rare disease has to work across the German, French and Italian speaking regions with the same small number of affected families, which is one more reason why representation is pooled in an alliance rather than fragmented by canton.

Referral in both directions is the usual pattern. Centres point newly diagnosed patients to the relevant organisation, and organisations point members towards the centre recognised for their disease group rather than towards general specialist care.

Cooperation with companies, and where the limits are

Companies developing orphan drugs interact with patient organisations for legitimate reasons: understanding the burden of disease, designing trials that patients can actually complete, and explaining what an authorisation or a reimbursement decision means. The interaction has to stay transparent, because the organisation's credibility rests on its independence.

1. Define the purpose of the contact in writing before it starts, including who initiated it.
2. Keep the organisation's independence intact: no editorial control over its material, no implied endorsement of a product.
3. Observe the boundary to advertising for medicinal products, in particular for products not authorised in Switzerland.
4. Document any funding transparently, so that members can see it.
5. Feed patient input into trial design and information material early enough to change something.

Written ground rules agreed at the start prevent most later disputes. They also protect the organisation, whose usefulness to its members depends on being seen as independent of any single marketing authorisation holder.

How to find the right organisation

The route usually runs through one of three doors. Orphanet's Swiss portal lists diseases and centres, ProRaris represents the member organisations as an alliance, and the kosek-recognised centres know the groups active in their disease area. Starting from the disease name rather than from a general search is quicker.

For companies and hospitals the same three doors apply. Identifying the relevant organisation before a trial is designed or an information leaflet is drafted is considerably cheaper than correcting material that does not match how patients actually describe their disease.

• Orphanet Switzerland for diagnoses, centres and trials by disease.
• ProRaris as the alliance representing the patient organisations.
• kosek for the centres and reference centres recognised for a disease group.