Table 1 Inclusion and exclusion criteria

Population

Adults (> 18 y) patients with rare genetic diseases, their representatives or parent to children with rare diseases, including as partner in rare disease research

People with other diseases than rare genetic diseases

Studies with participation from any country

Studies with broader populations not giving separate results of > 80% of adults with genetic diseases

Studies mainly addressing paediatric patients, professional or other stakeholder as partner in rare diseases research

Type of publications

Peer reviewed articles

Conference abstracts, commentaries, essays, consensus statements, book chapter reports, brochure, economic analyses,

Original research, primary studies

Articles dealing with legal or ethical issues, unpublished data (grey literature), study protocols, guidelines or non- systematic reviews

Secondary research studies: reviews

All types of study designs

Topic of interest

Studies presenting results on patient involvement in rare diseases research

Articles dealing with legal or ethical issues, unpublished data (grey literature), study protocols, guidelines or non- systematic reviews

At least one aim Is to evaluate and describe patient involvement as a method in research

Studies addressing other issues than patient involvement in rare diseases research

Studies describing Patients involvement, but denotes the concept with another terms

Language

English, French, German, Danish, Norwegian, or Swedish language, including a English summary/abstract

Any other language