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.