Box 2 The criteria selected

Category 1: Criteria that are particularly important for strengthening future research on rare diseases

(1) Research topics related to various QOL aspects, such as psychological and lifestyle aspects

(2) Research topics related to expected findings meant to alleviate patients’ pain and burden and lead them to gain ‘independence’

(3) Research topics that patients readily experience as issues and would directly feel the benefits of, if properly addressed

(4) Topics on which research has been set aside or delayed because the number of the patients with the rare disease is so small, or the diseases were not life-threatening

Category 2: Criteria in which patients and family members voted more than researchers and former policymakers

(5) Research topics that affect the surrounding environment, such as family and healthcare providers

(6) Research topics on problems that cannot be resolved even though patients have been making their own efforts

Category 3: Criteria with specific important perspectives that were not covered by the criteria in Categories 1 and 2

(7) Research topics related to children

(8) Research topics where Internet use is expected to be an effective problem-solving tool