Development of a new rare disease registry

Abstract

The notion of rare diseases was rarely heard of twenty years ago. As of the 21st century, there has been a notable interest in rare diseases and research and development of orphan medicines (Yazhou, Jinxiang, 2015). Rare disease registries are essential instruments in the field of rare diseases for research purposes. Research may be restricted due to the registries being heterogeneous. Two questionnaires, one for healthcare professionals and one for the public including rare disease patients, were developed, validated, and disseminated. Rare disease patients were recruited via the National Alliance for Rare Diseases Support Malta (NARDSM). The experience and awareness of laymen with regards to rare diseases was analysed. The level of the professionals’ awareness and experience about rare diseases and orphan medicines was analysed. Two hundred and twenty-eight people completed the public questionnaire. Thirty-seven percent of the respondents knew or were related to someone with a rare disease. Thirteen percent of the respondents were rare diseases patients. Eighteen percent of the rare disease patients had encountered problems while trying to obtain an orphan drug. Seventy-three HCPs completed the questionnaire for HCPs. Fifty-three percent of the respondents had diagnosed, encountered or examined a rare disease patient at a point in their career. Thirty-two percent of the respondents had dispensed or tried to dispense an orphan drug. Twenty-seven percent of the respondents had encountered various problems while trying to obtain an orphan drug for patients. The questionnaire results showed that the healthcare professionals lacked more awareness and knowledge than the public. Consultations with members of the NARDSM were held to discuss material to be included in the information leaflet. An information leaflet for healthcare professionals was developed. Three rare disease registry templates from European organisations were analysed. Data elements for a rare disease registry were identified from the three templates based on applicability and relevance to the local register used by NARDSM. Rare disease research is very patient-oriented and patient involvement is beneficial. Through the information booklet, healthcare professionals are empowering their patients and encourage registration to rare disease registries. Harmonisation of rare disease registries will encourage research and development on national and international levels.