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Promoting Partnerships Between Advocacy Groups and Researchers

IMFAR Special Interest Group, 2017

San Francisco, CA

May 13, 2017

Summary: 71 people attended and signed in to the SIG, not counting presenters and organizers. Just under half were considered early career scientists. Almost everyone indicated that they wanted to continue to participate in ongoing discussions and planning of activities that developed as a result of the SIG.

Part 1

Presentation of mission and accomplishments of some of the Patient Advocacy Groups


Shafali Jeste, UCLA

Steve Roberds, TS Alliance

John Spiro, Simons Foundation

Geraldine Bliss, PMS Foundation

Vanessa Vogel-Farley, Dup15q Alliance

Primary Goals:

  1. Facilitate a more direct dialogue between PAGs and researchers and clinicians who study and care for these populations

  2. Discuss and develop strategies around central themes and issues faced by every group

Shafali Jeste, PhD, of UCLA speaking.

Part 2

Breakout groups for discussion on topics of interest

Registries, led by Megan O’Boyle, Stelios Georgiades and Audrey Thurm:

Identified gaps...

  • Lack of coordination and consistency across PAG registries

  • Different information collected, information not a good match for researchers’ goals

  • Researchers have limited awareness of availability of PAG resources

Next steps...

  • Create a list of PAG registries (and their contents) in order to make the research community aware of the resources and facilitate cross-disease analysis

  • Propose the “next generation” of PAG registries, possibly using a tiered model in which all PAG’s collect consistent basic information, along with disorder-specific additional information

  • Start with a collaborative meeting

  • Panel presentation at 2018 IMFAR to present discussion points and progress in this area

  • Create an over-arching shared database that all PAG’s can enter their information into in order to facilitate cross-disease analysis and reduce burden on families

Biorepositories, led by Mat Pletcher and Jennifer Lowe:

Identified gaps...

  • Inconsistent sharing of biological resources (animal models, tissues, data)

  • No centralized information regarding availability and location of biological resources

  • Limited cross-syndrome studies

Next steps...

  • Create a list of biorepositories (and their contents) in order to make the research community aware of the resources and facilitate cross-disease analysis

  • Mandate and enforce data sharing for animal models, tissues and other biological data

  • Propose an RFA for cross-syndrome studies

  • Mandate data sharing and timeline on repository materials in grants, and/or partner on a centralized repository

Clinical Trials, led by Deborah Pearson and Donna Murray:

Identified gaps...

  • Lack of coordination among researchers, clinicians, PAGs and patients/families

  • Lack of consistent pipeline for dissemination of research and communication of findings with families and community

  • Lack of meaningful clinical endpoints/outcome measures, particularly in syndromes where standardized assessments provide limited information

Next steps...

  • Engage a larger group of advocates (self and parents) to provide input

  • Create a centralized resource for dissemination of research findings (similar to the clinical trials network previously created by Autism Speaks). This should include research summaries on a variety of topics (written for families and clinicians) along with information on how to be a good consumer of research.

  • Create guidelines for best practices regarding assessments and clinical endpoints/outcome measures

  • Clinical endpoints must reflect outcomes that families find impactful, as well as meeting FDA requirements

  • Establish a common registry for natural history and clinical trials data across organizations, as this will help identify outcome measures

IMFAR, Halladay

Alycia Halladay, PhD, of the Autism Science Foundation speaking.

Feedback from participants:

The participants indicated that they thought this SIG could be most productive by increasing opportunities for collaboration including, but not limited to: multidisciplinary approaches, data sharing, and combination of data sets. Another common theme was the need for PAGs to help build or support infrastructure such as common core data collection protocols, a registry template, open access tools, and outcome measures. They also stressed the importance of providing information to the community for understanding of the importance of research in this area, as well as more basic educational tools. Finally, they suggested that leadership of the SIG write a white paper to address one or more of the challenges and proposed solutions in the key areas discussed in the breakout groups.

The individuals who participated also indicated that they would like more time for discussion in the future. Since that is not really feasible at a SIG, the group is going to consider opportunities for ongoing engagement such as webinars, teleconferences, or opportunities to meet at other meetings like ASHG or SFN before the next IMFAR in the Netherlands.

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