FAQ

Partnership Between Sleep Consortium and RARE-X

  • Sleep Consortium (SC) has chosen to partner with RARE-X who are providing the technology backend infrastructure in support of the consortium’s data collection, connection and sharing goals.
  • RARE-X is a service provider with services that include the technology platform, domain standardization work, data portal development, data governance, marketing, and patient engagement support.
  • RARE-X is a nonprofit 501c3 organization and provides the aforementioned as part of their basic service offering
  • Sleep Consortium chose RARE-X because of the novel approach to data collection, data governance, and meta data collection. This will allow SC and its partners to identify and support cross-disease research, identify expanded patient populations, and support the patient community ecosystem within sleep, with their own customized patient portal(s).
  • Currently RARE-X is supporting 35 disease communities, 60% are in Neuro and a large percentage have already noted sleep disturbances as a phenotype of their disease. This is where the long-term value exists for RARE-X and SC, in identifying and supporting new patients and communities, and providing opportunities for researchers to search across the entire RARE-X ecosystem of data.
  • RARE-X is developing standardized contracting that supports pre-competitive data sharing and developing novel agreements for biopharma/sponsors with periods of exclusivity for study specific data. This exists in Sub-Studies.

Data Domain Development

  • Data is structured using existing validated measures, where applicable.
    In the areas where data capture needs do not have validated data structures or standards, the data capture will be incorporated into the data mapping process.
  • Data is structured using existing validated measures, where applicable.
  • In the areas where data capture needs do not have validated data structures or standards, the data capture will be incorporated into the data mapping process.
  • Existing diagnosis and diagnostic procedures will be reported by participants including onset of symptoms and diagnostic timelines.
  • Current symptomology associated with cataplexy will be captured in a systems-based manner.
  • Data will go through quality control process checking on a regular basis to evaluate data efficacy.

Data Governance

  • Existing data sets do not have to be translated into English, however existing data will need to be put into a numerical format to enable mapping/merging data for analytics.
  • RARE-X holds IRB protocol(s) to support the collection, connection, aggregation, sharing and analysis of data. As our use case expand, institutional oversight and needs are evaluated.
  • The need/ability to reconsent will be determined on a case by case basis through evaluation of the existing original protocols and consents.  
  • It is acknowledged that in some cases re-consenting is not allowable or feasible based upon the existing consent, however utilization of the data may be enabled via a de-identified data analysis protocol submission to the original institution.
  • Where possible RARE-X will support the re-consent/update of consent of participants to enable further patient driven data sharing and data usage. 
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Technology - Data Collection

  • RARE-X provides a data collection portal with a structured, robust approach to data capture. Participants will be leveraging domain modules supported by validated surveys/measures based on their disease. The platform begins with a validated general head to toe health survey/questions, that then leverages branch chain logic to support the introduction to additional relevant surveys based on their answers.
  • The data collection platform is supported by robust data governance, consents, and data preference surveys provided by RARE-X. 
  • RARE-X’s data collection platform can be utilized by any other disease spaces as RARE-X takes a disease agnostic approach to data collection. Supporting participants to report data on all systems and insights they may have rather than what is only traditionally tracked in their disorder. This enables more robust cross disease research and discovery.
  • Surveys intended to capture longitudinal data are programmed with reminders that go to participants to support data collection over time. Participants are also able to log back in at any time to report changes in their diagnosis(es), severity, health, medications, etc.

Technology - Data Connection and Federation

  • For existing databases that commit to data aggregation, evaluation and alignments/extensions of data maps will be created to enable cross data set usage.
  • This will be evaluated on a case-by-case basis, based upon original research protocols and consents.  Where applicable, linkage on an individual basis will be allowed.
  • Collaborative discussions with the investigators of existing data sets will be the first step to evaluate the protocols and sharing opportunities. For existing databases that commit to data aggregation, evaluation and alignments/extensions of data maps will be created to enable cross data set usage.

Other Questions

  • Sleep Consortium is helping steward data collection, but the ownership of patient data collected leveraging RARE-X is patient-owned.  
  • This data is owned by the patient. Consents and Governance support this.  SC will not be charging for data access, and neither will RARE-X.
  • Sponsored Sub-Study Data [additional data being collected outside what is available through the general RX platform] will require additional fees, governance, software engineering, and embargo period.  
  • The Broad has been an important strategic partner.  Anthony Philippakis CDO sits on the board of directors of RARE-X.
  • The Broad and RARE-X have a robust collaboration and are building out a RARE-X instance of Terra in support of a federated data sharing library for rare disease.

RARE-X General Overview Statement

RARE-X’s mission is to enable the gathering, structuring, and sharing of patient-level data at scale, to accelerate research and therapy development.  RARE-X launched its Data Collection Portal (DCP) in August 2021 and will support 35 disease communities on the platform with disease specific community data collection portals (registries) by mid-2022.  By the end of 2022, RARE-X will be partnering with over 100 disease communities.  This includes Sleep Consortium who will launch its DCP in Q2.

In Q2, RARE-X will be launching the researcher portal leveraging the Broad’s Terra platform. This platform will support all the disease community DCP’s, it will be able to support the connection of other data [ie. Genomic, EHR, Other testing, Clinician reported prospective data, and other data]

Terra is a next generation data access and analysis platform. This platform allows researchers to Find [one library – many datasets], Access [immediately], Analyze [easy to use tools and resources], and Share [as easy as a google doc].  Federated architecture and infrastructure is built to scale by enabling data custodians to plug into the platform, rather than aggregate data all in one place, creating one front door for researchers. Workspaces bring data and analytics together. Terra currently supports many data sets including NIH-AllofUs, NHGRI, NHLBI – Anvil, Human Cell Atlas, UK Biobank, NCI – Cancer Genome Atlas, 1,000 Genomes, Verily Project Baseline. RARE-X is working to develop a rare disease specific Federated Library beginning in Q2.