Table 1.

A summary overview of rare disease activities in ERN ReCONNET countries

Country/ Activities	Centers of expertise for rare diseases	Sharing information, patient support	Clinical Practice guidelines and best practice;Registries	Access to healthcare services and orphan drugs	Organization of care
Belgium	Annualnational funded NPRD*; three levels of networks for rare diseases.	Maininformation provided by RaDiOrg* patients’ organization.	CPGs* not produced at national levels. The Central Registry for RDs* is in place. Specific diseases registries also available.	About n. 78 ODs* available (end of 2016).	Neonatal screening programs regulated by regional law.
France	NPRDsince 2004. Third plan 2018-2022 approved on July 2018.	Main information developed and provided by Orphanet.	National standard of care for RDs are provided by reference centres.	Essential services and products may be reimbursed, included off-label products.	Neonatal screening programs available.
Germany	RD centres of expertise implemented by the federal structure of the healthcare system (limited list diseases).	Information developed by Orphanet, and a national helpline for patients was setup.	CPGs available for some rare diseases.	ODs fully reimbursed.	Neonatal screening programs available.
Italy	NPRD 2013-2016 approved in October 2014. National and regional designation process for identification of centres of expertise for RDs (hospitals) since 2001.	Information developed and provided by Orphanet and a national helpline for patients was setup.	CPGs produced and implemented at national level. Registries:National RD Registry and Regional RD registries projects are funded by NHS*.	ODs are provided by the NHS following the same coverage for all other medicinal products.	Neonatal screening programs available. RD patient pathway available.
Portugal	RDs centres of expertise are recognized by an official act of the Minister of Health under a National strategy for RDs.	Information developed by Orphanet, and a national helpline for patients was setup.	CPGs produced and implemented at national level. Nonational or regional registries.	Patient access services provided by RD card since 2013. NHS covers all patients on a national reimbursement list basis.	Neonatal screening programs available.
Romania	NPRD adopted at the end of 2013 funded through national legislation (no dedicated budget).	Public funded national RDs information, helplines are in place.	No CPGs for RDs. (at the date of 2016). National or regional RD registries missing. Disease specific registries available.	Some genetic tests are provided to patinets free of charge. ODs are both commercialized and free of charge for patients.	Not found
Slovenia	NPRD adopted covering the period 2012-2020.	Information developed by Orphanet, and a national helpline for patients wassetup.	CPGs adopted at national level for some diseases.	Specific programs and facilities are in place to support people with RDs (individual care plans, access to social and support services).	Neonatal screening programs available.
The Netherlands	NPRD adopted in 2003 with allocated structured budget.	Information developed by Orphanet, and a national helpline for patients was setup.	NCPGs produced. A national policy for development, adoption and implementation of CPGs is in place.	ODs fully reimbursed.	Neonatal screening programs available.

*NPRD, National Plan for Rare Diseases; RDs, Rare Diseases; RaDiOrg, Rare Disease Organization Belgium; ODs, Orphan Drugs; CPGs, Clinical Practice Guideline and best practice; RDs, Rare Diseases; NHS, National Healthcare System.