Rare Commons: An Innovative Social Media Platform 2.0 for Collaborative Clinical Research on Pediatric Rare Diseases

Begonya Nafria Escalera; Mercedes Serrano Gimaré; Jordi Antón López; Estibaliz Iglesias; Rosa Bou Torrent; Joan Prat Bartomeu; Jaume Catala Mora

doi:10.1542/peds.141.1_MeetingAbstract.235

The use of social media for patients and families education is already a common use in the medical field, although not so frequent in pediatric rare diseases. Rare Commons is a research project focused on the biomedical study of rare diseases affecting children, that uses a social media platform where patients, families and clinicians collaborate together to generate scientific knowledge about rare diseases. Methodology of collaboration is based on the Collective Intelligence Theory (Malone, 2014), on the Crowdsourced Health Research Studies (Swan, 2012) and on the expertise accumulated with a pilot project based on the clinical study of Lowe syndrome. Social media facilitates the access to a larger sample of patients, because it solves the geographical and language boundaries. Simultaneously is a tool to empower patients and families with management of the disease and promoting the collaboration between investigators around the world. Rare Commons methodology with families is based in an easy cycle that is repeated for everybody system that is affected by a disease (genetics, neurology …). One cycle is: easy reading chapter about one system, exhaustive survey to collect clinical smart data and share a summary of the statistical data collected with the collaboration of the families. (Figure 1). Clinicians fill in a specific survey of their patients and can access to other services (Figure 1).The two communities (families and clinicians) of every disease have the supervision and dynamization of the patient advocacy manager of Rare Commons. Every research project has the approval of the Ethics Committee and therefore every family completes and signs the informed consent to participate in the project. The goals of the ongoing research projects are: 1. To increase the knowledge about the natural history of the disease, its clinical and biochemical characteristics, and genotype and phenotype correlations. 2. To develop algorithms of clinical suspicions and diagnosis that will facilitate early diagnosis of the disease and its complications. 3. To generate relevant information for participating families focused on the disease self-management, with professional support to complement, but not replace, medical advice. 4. To create exhaustive clinical patients' registers with the aim to have epidemiological valid data about rare diseases and the screening of patients for future clinical trials. Rare Commons has four research ongoing projects: Lowe syndrome, congenital disorders of glycosylation, NBIA and five inherited retinal dystrophies (Figure 2). Nowadays we are working to start three more additional projects: juvenile dermatomyositis, osteogenesis imperfecta and Menkes syndrome. CONCLUSION: The best tool and methodology to develop international research projects on rare diseases are social media and the collaboration between different agents (patients, families and clinicians), it facilitates the collection of clinical smart data through large and international samples of patients.

Figure 1

Schemes of the different phases of the research methodology with families and about the services that Rare Commons offers to clinicians and researchers.