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DAY 1: Monday, September 23, 2019

Session 1: Welcome and Introductions

8:30–8:45 a.m. Welcome Remarks from INCLUDE Leadership
Diana Bianchi, M.D., Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

8:45–9:05 a.m. Perspectives from a Self-Advocate and Family Member
David Egan, Self-Advocate
Marc Egan, M.S., Brother

9:05–9:35 a.m. Setting the Stage: A Vision for an Integrated Down Syndrome Cohort
Melissa Parisi, M.D., Ph.D., NICHD

Session 2A: Existing Down Syndrome Cohorts: Round Robin

Session Chair and Moderator: Charlene Schramm, Ph.D., National Heart, Lung, and Blood Institute (NHLBI)

9:35–10:15 a.m. Neurodevelopment and Cardiac Defects in Down Syndrome: The DS 360 Project (DS360)
Tracie Rosser, Ph.D., Emory University

Down Syndrome Cohorts Focusing on Communication and Hearing
Jennifer Kent-Walsh, Ph.D., University of New Mexico and University of Central Florida

Congenital Heart Disease in Down Syndrome and High-Throughput Considerations
Amy Roberts, M.D., Boston Children’s Hospital

Sleep in Down Syndrome: A Window into Memory Consolidation
Jamie Edgin, Ph.D., University of Arizona

Cardiorespiratory Assessment in Children with Down Syndrome
Ignacio Tapia, M.D., Children’s Hospital of Philadelphia

Myeloid Malignancies in Down Syndrome
Soheil Meshinchi, M.D, Ph.D., Fred Hutchinson Cancer Research Center

10:15–10:45 a.m. BREAK

Session 2B: Existing Down Syndrome Cohorts: Round Robin

Session Chair and Moderator: Robert Riddle, Ph.D., National Institute of Neurological Disorders and Stroke (NINDS)

10:45–11:45 a.m. IDDRC Populations and Down Syndrome Cohorts: Standardized Phenotyping Using Large-Scale Database Approaches
Laurie Cutting, Ph.D., Vanderbilt University Medical Center

Cognitive Assessments in Children with Down Syndrome
Anna Esbensen, Ph.D., University of Cincinnati

ABC-DS: Adult Cohorts and Biomarkers for Dementia
Benjamin Handen, Ph.D., University of Pittsburgh

The LonDownS Consortium: Aging in Down Syndrome
Andre Strydom, MRCPsych, Ph.D., King’s College London

Horizon 21: A European Consortium to Study Alzheimer’s Disease (AD) in Down Syndrome
Juan Fortea, M.D., Ph.D., Fundació Catalana Síndrome de Down

The Human Trisomy Project (HTP)
Joaquin Espinosa, Ph.D., University of Colorado

LuMind Cohort Studies
James Hendrix, Ph.D., LuMind IDSC Foundation

Recruiting Diverse Populations
Sid O’Bryant, Ph.D., University of North Texas

Session 3: Introduction to the Day 1 Breakout Sessions: Clinical Aspects of Down Syndrome and the ‘Omics and Biospecimens Needs of the Virtual Cohort

11:45 a.m.– 12:00 p.m.
Introduction to the Work Groups and Breakout Sessions
Gail Pearson, M.D., Sc.D., NHLBI

12:00–1:00 p.m. LUNCH

Session 4: Day 1 Breakout Sessions

1:00–3:30 p.m. Working Groups for Day 1 Breakout Sessions:

A. Co-Occurring Conditions Across the Lifespan (CoC), Room O120

Session Leaders: Marilyn Bull, M.D., Riley Hospital for Children; and Matthew Janicki, Ph.D., National Task Group on Intellectual Disabilities and Dementia Practices
Facilitator: Anna Mazzucco, Ph.D., NIH Office of the Director (OD)
Notetaker: Christina Park, Ph.D., M.H.S., NIH OD/Environmental influences on Child Health Outcomes (ECHO) Program

1. What types of clinical and phenotypic data are most valuable to collect for longitudinal and cross-sectional purposes?
2. What data elements would comprise a minimum common dataset across all ages and co-occurring conditions?
3. How do you add a Down syndrome (DS) component to an existing study?
4. How can existing clinical populations (e.g., DS clinics) be leveraged to help build the INCLUDE cohort study?
5. What types of subject- and family-entered data are most valuable for cohort studies?

B. ‘Omics Collections for Down Syndrome Populations (Omic), Room O121

Session Leaders: Amy Brower, Ph.D., American College of Medical Genetics and Genomics; and Philip Lupo, Ph.D., Baylor College of Medicine

Facilitator: Michael Kurilla, M.D., Ph.D., National Center for Advancing Translational Sciences (NCATS)

Notetaker: Huiqing Li, Ph.D., NHLBI

1. What existing genomic or other ‘omics datasets can be informative for a larger-scale effort?
2. Which ‘omics should we prioritize for collection and long-term analysis?
3. Can we anticipate future ‘omics needs, and what would constitute a minimal ‘omics dataset?
4. How can we ensure linkages between ‘omics datasets and clinical data?
5. What tools are needed to interpret and harmonize these large ‘omics datasets?

C. Biospecimens, Storage, and Distribution (BioS), Room O122

Session Leaders: Tatiana Foroud, Ph.D., Indiana University; and Bernard Khor, M.D., Ph.D., Benaroya Research Institute, Virginia Mason Medical Center

Facilitator: Erika Tarver, M.S.M, National Institute on Aging (NIA)
Notetaker: Christine Guilfoy, Palladian Partners

1. How can we encourage individuals with Down syndrome to participate in tissue (including brain tissue) donation efforts?
2. What tissues should be prioritized for collection, and how should they be collected?
3. Where and how should biospecimens be stored, and can existing biobanks be linked under a common portal to promote access?
4. How can we ensure linkages between biospecimens and cohort data?
5. What policies and procedures exist to facilitate sharing and access by investigators?

D. Outreach Activities and Participant Engagement (ENG), Room O126

Session Leaders: Ann Cohen, Ph.D., University of Pittsburgh; and Deborah Fidler, Ph.D., Colorado State University

Facilitator: Rebekah Rasooly, Ph.D., National Institute of Nursing Research (NINR)

Notetaker: Sujata Bardhan, Ph.D., NICHD

1. What are the best strategies to outreach to the community, including clinicians, researchers, and advocacy groups?
2. How can minority populations be encouraged to participate?
3. Are there any lessons from existing cohorts, such as All of Us or other minority recruitment efforts, to inform this activity?
4. How can registries such as DS-Connect^® facilitate recruitment for cohort studies and facilitate linkages across datasets?
5. What feedback (e.g., results reporting, surveys, newsletters) do families find worthwhile to maintain engagement?

3:30–4:00 p.m. BREAK (flexible)

4:00–5:30 p.m. Report Back from Each Working Group and Discussion

5:30–5:45 p.m. Close of Day 1

DAY 2: September 24, 2019

8:30–8:45 a.m. Welcome Remarks from INCLUDE Leadership

Gary Gibbons, M.D., Director, NHLBI

8:45–8:55 a.m. Group Picture

8:55–9:10 a.m. Overview of Day 1 and Introduction to Day 2

Laurie Ryan, Ph.D., NIA

Session 5: Framing Talks to Prepare for Day 2 Breakout Sessions: Data Integration and Harmonization Among Down Syndrome Cohorts

Session Chair and Moderator: Valerie Cotton, NICHD

9:10–9:30 a.m. IT and Data Infrastructure Needs for Interoperability

Allison Heath, M.S., Ph.D., Children’s Hospital of Philadelphia

9:30–9:50 a.m. Challenges for Broad Data Sharing

Jaime Guidry Auvil, Ph.D., National Cancer Institute (NCI) Office of Data Sharing

9:50–10:10 a.m. Data Harmonization and Common Data Elements

Nicole Vasilevsky, Ph.D., Oregon Health & Science University

10:10–10:30 a.m. Clinical Trial Readiness: Ensuring That Cohort Studies Can Pave the Way for Clinical Trials

Michael Rafii, M.D., Ph.D., Keck School of Medicine of the University of Southern California (USC)

10:30–10:40 a.m. Open Discussion

10:40–11:10 a.m. BREAK

Session 6: Introduction to the Day 2 Breakout Sessions: Data Integration and Harmonization Among Down Syndrome Cohorts

Session Chair and Moderator: Lawrence Brody, Ph.D., National Human Genome Research Institute (NHGRI)

11:10–11:20 a.m. Introduction to the Work Groups and Breakout Sessions

Session 7: Day 2 Breakout Sessions

11:20 a.m.–12:30 p.m.

Working Groups for Day 2 Breakout Sessions, Part 1

12:30–1:15 p.m. LUNCH (flexible depending on Working Group needs)

1:15–2:15 p.m. Working Groups for Day 2 Breakout Sessions, Part 2

Working Groups for Day 2 Breakout Sessions:

E. IT and Data Science Infrastructure Needs for Data Harmonization (IT), Room O120

Session Leaders: Eileen King, Ph.D., Cincinnati Children’s Hospital; and Russ Waitman, Ph.D., University of Kansas

Facilitator: Erica Rosemond, Ph.D., NCATS

Notetaker: Tara Dutka, Ph.D., National Institute of Mental Health (NIMH)

1. What types of data infrastructure can facilitate data sharing or federated data sharing models in accordance with FAIR (Findable, Accessible, Interoperable, Reusable) principles?
2. How can we ensure that data systems are interoperable when they are being built? What are some examples that illustrate how to do this?
3. What are the common data elements (CDEs) that need to be collected in order to allow harmonization of data across cohorts and comorbidities?
4. How can registries such as DS-Connect^® or National Database for Autism Research (NDAR) facilitate linkages across disparate datasets?
5. Are global unique identifiers (GUIDs) truly unique, and how can we ensure data linkages by using different GUID generators?

F. Data Sharing and International Issues (DataS), Room O121

Session Leaders: James Coulombe, Ph.D., NICHD; and Adam Resnick, Ph.D., Children’s Hospital of Philadelphia

Facilitator: Kelly King, Au.D., Ph.D., National Institute on Deafness and Other Communication Disorders (NIDCD)

Notetaker: Marie Mancini, Ph.D., National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

1. How can we build a culture of broad data sharing among researchers, advocacy groups, and individuals/families with DS?
2. Are there initial steps that can facilitate data sharing in the long run?
3. What issues exist that facilitate or deter from gathering broad consent for data sharing, both domestically and internationally?
4. Are there special considerations for international cohorts, and how can we address them?
5. How can we equitably ensure access to data by other investigators for secondary uses?

G. Registries and Cohort Needs (REG), Room O122

Session Leaders: Scott Kim, M.D., Ph.D., Department of Bioethics, NIH; and Elizabeth Head, Ph.D., University of California, Irvine

Facilitator: Aruna Natarajan, M.D., Ph.D., NHLBI

Notetaker: Rachel Goldman, M.A., NICHD

1. What are the special considerations for consenting individuals with reduced decisional capacity?
2. How can we “consent across the life span” to ensure that cohorts are re-consented into adulthood and beyond, even if they become impaired?
3. How can we ensure that there are systems in place for return of results to participants?
4. How can we link biospecimens to registries and promote access?
5. How can we promote patient- or subject-entered data for an engaged participant pool?

H. Clinical Trial Readiness (CTR), Room O126

Session Leaders: Ruth Litovsky, Ph.D., University of Wisconsin–Madison; and Mara Becker, M.D., Duke University

Facilitator: Marishka Brown, Ph.D., NHLBI

Notetaker: Lisa Kaeser, J.D., NICHD

1. What are the best strategies to outreach to the community, including clinicians, researchers, and advocacy groups?
2. What approaches can facilitate recruitment and retention of families/subjects to build the DS cohort and understand natural history, including underrepresented groups?
3. How can we build the pipeline of investigators who have DS clinical trial experience?
4. How can we ensure that cohorts are prepared for future clinical trials?
5. Are there special considerations for clinical trials in those with DS across the life span?

2:15–3:30 p.m. Report Back from Each Working Group and Discussion

3:30–4:00 p.m. Next Steps, Future Activities, and Closing Remarks

Moderators: Melissa Parisi, M.D., Ph.D., NICHD; and Gail Pearson, M.D., Sc.D., NHLBI

Final Questions: What is missing from our “Blueprint” for creating a DS cohort across the life span? Are there any other stakeholders that should be involved in this activity? What are the next steps?

4:00 p.m. Close of Day 2