The WHO will soon open its first global rare disease plan for public comment, with patient groups expecting just 30 days to respond. They want Europe’s 18-priority blueprint to help mould it.

The World Health Organization (WHO) is about to open its first global plan on rare diseases for comment. Europe’s rare disease community is getting organised so its ideas make it in.

“Thirty days is not a lot of time and that means we have to work together,” said Ravi Ram, chief executive of Rare Diseases International (RDI). RDI is a network of more than 150 patient organisations from all WHO regions. WHO has largely finished a “zero draft”, Mr Ram said. Once it has internal approval, WHO will post it online for 30 days of public comments.

Thirty days is not a lot of time and that means we have to work together. — Ravi Ram, chief executive of Rare Diseases International

Yann Le Cam, the founder and former chief executive of the patient alliance EURORDIS-Rare Diseases Europe, urged people to watch for the consultation and respond. WHO needs to hear from researchers, hospital managers, clinical leads, patient groups and industry, he said. Messrs Ram and Le Cam spoke in the closing session of the World Orphan Drug Congress Europe, held in Amsterdam from 26 to 28 October.

A plan years in the making

WHO member states adopted their first resolution on rare diseases in May 2025. It asks WHO to draw up a ten-year global action plan.

Mr Ram says recognition has not led to action. The UN General Assembly adopted a resolution on people living with a rare disease in December 2021. “’No one left behind’ — we are left behind. That is the reality,” he said, citing the motto of the UN Sustainable Development Goals.

WHO’s published timeline foresees a discussion paper in the last quarter of 2026 and a first draft in early 2027. Member states are due to adopt the plan at the World Health Assembly in May 2028. Mr Ram expects the text to cover diagnosis, treatment, data and research. It may also tell countries how to set up a national registry, so they know who needs care.

He worries that WHO will treat each topic separately. Patient groups may push for “a holistic approach” instead, he said. “Patients’ voices have to be shining in this document because if it does not reflect lived experience it will fail,” he said.

Building alliances fast

RDI is lining up partners in Europe, Mr Ram said. They include the European Rare Diseases Research Alliance (ERDERA), EURORDIS, industry and academia. “We’re going to be working fast to make sure that we can get a pool of knowledge together,” he said.

Europe already has a starting point. EURORDIS published a European Blueprint for Rare Diseases on 15 October. It sets out 18 priority actions in six areas, from diagnosis to access to medicines.

About 30 million people in Europe live with a rare disease, according to EURORDIS. Diagnosis takes nearly five years on average. The blueprint is aimed at an EU action plan. But it was built with the global plan in mind, said Valentina Bottarelli, senior public affairs director at EURORDIS.

A European regional task force, part of RDI’s global network, surveyed which EU actions also matter at global level, she said. Several ideas scored high for the global plan. They include access to genetic testing, cross-border genome sequencing and the use of artificial intelligence (AI) in diagnosis. Systematic use of ORPHAcodes, a coding system for rare diseases, also came out as a global priority.

So did networks of experts across countries, Ms Bottarelli said. That is the model of the European Reference Networks (ERNs), which could be extended to global networks. The EU has 24 ERNs. They link 1,606 specialised centres in 375 hospitals.

Ms Bottarelli sees the two plans working together. The global plan would set the standards and targets, and the EU plan would be how the European region delivers them, she said.

Both ways

Mr Ram sees the blueprint as “a source of inspiration and technical guidance” for the global plan. But the learning goes both ways. “We’re going to find a lot of things in the rest of the world that we want to bring back to Europe,” he said.

The blueprint did not come about on its own. EURORDIS wrote it alongside a report in the European Parliament. Key MEPs took part in the work, including the MEP leading the report, Ms Bottarelli said.

The missing piece is the willingness of the European Commission to work on that. — Valentina Bottarelli, EURORDIS

The two texts have different jobs. The blueprint sets out what an EU plan should contain. Parliament’s report provides the political mandate. They largely match. “Of our 18 priorities at least 12 are very much aligned with the report of the Parliament,” Ms Bottarelli said. The other six are “largely aligned”, she added.

Parliament’s public health committee (SANT) adopted the report on 28 September, by 33 votes to three with five abstentions. The rapporteur is Nicolás González Casares (S&D/ESP). It is a legislative own-initiative report. With it, Parliament formally asks the Commission to propose a law. MEPs want an EU regulation on rare diseases, backed by a Council recommendation and an EU action plan.

Will the Commission act?

Both texts are aimed at the Commission. It would have to start work on an action plan, and efforts had been stalling, Ms Bottarelli said. “The missing piece is indeed the willingness of the European Commission to work on that,” she said.

The file sits with the Commission’s health department under Health Commissioner Olivér Várhelyi, according to Parliament’s procedure file. If the full Parliament adopts the report, the Commission has three months to respond.

The catch: capitals step back

National support is the weak link. “At the same time I’m hearing and receiving messages that actually in Europe there is a disengagement at the national level from the commitment to rare diseases,” said Daria Julkowska. She coordinates ERDERA, which brings together more than 180 organisations from 37 countries.

Some countries that took part for 20 years will not join ERDERA’s current funding call, she said. Rare disease budgets now compete with war and other priorities. “Every two years we have to come with all the same arguments why rare diseases cannot be tackled at national level,” she said.

What comes next

Mr Ram hopes WHO publishes soon. “It could come out tomorrow he said on Wednesday and that would be fantastic because we need this clock to start going.” Regional consultations, organised by WHO region, will follow.

In Brussels, the full Parliament votes on the report, with 14 December as the indicative date.