Report to CTSA POC on Rare Disease Workgroup

1. Report to CTSA POC on Rare Disease Workgroup Jan 4, 2008

2. Pediatrics Oversight Committee Rare Disease Workgroup • Rare Diseases Workgroup • Genesis: • Discussion between Jennifer Puck and Robert Steiner at 1st POC meeting • Subsequently, POC members voted this a high priority initiative • Activities: • Initial conference call with NIH staff • Second call with a few rare disease experts in January 2008 • Define Workgroup vision based on calls and POC input • Potential for Collaboration • NIH Rare Disease Clinical Research Network (Elaine Collier) • NIH Office of Rare Diseases (Steve Groft) • FDA Office of Orphan Products Development

3. Pediatrics Oversight Committee Rare Disease Workgroup • Objectives • Identify gaps in systematic study of rare diseases, and how CTSA might help • Issues • Inadequate patient numbers at individual sites • Many rare diseases not covered in existing networks • Infrastructure needed to organize multi-center efforts • Limited number of investigators and few in pipeline • Need for multi-center training mechanisms

4. Pediatrics Oversight Committee Rare Disease Workgroup • Issues (continued) • Incompatible mechanisms for data collection, encoding, storage, AE reporting • Biorepositories exist, but no coordinated information about rare disease specimen collections • How to involve industry partners

5. Pediatrics Oversight Committee Rare Disease Workgroup • Discussion points • Prioritize key issues to tackle? • How can CTSA sites help? • Platform for communication • Platform for collaborative research • How can POC members and Workgroups help? • Scientific expertise • Sharing of effective practices

6. Pediatrics Oversight Committee Rare Disease Workgroup • Workgroup membership • Volunteers from CTSA sites (POC members and others) • NIH staff: Elaine Collier, Steven Hirschfeld, Gail Pearson

7. Next Steps • Teleconference with experts • Determine workgroup membership and objectives to be solidified • Leadership by 1 or 2 POC members • Participation by pediatricians at CTSA sites • Non-CTSA members to supply additional expertise and potentially resources • Non-pediatricians welcome • Wiki space for communication to be set up • Set priorities and develop implementation plan

8. Example of CSTA POC RDWG work NICHD request for capability statement published Dec. 7 (due Dec. 20!) Invites 'Capability Statements' to inform an upcoming RFA for a national Newborn Screening Translational Research Network Coordinating Center. http://www2.fbo.gov/spg/HHS/NIH/NICHD/Reference%2DNumber%2DNICHD%2DMRDD%2DNewborn/SynopsisR.html Jennifer Puck-UCSF; Bob Steiner-OHSU, Nancy Green-Columbia; decided CTSA community should respond, with POC Rare Disease workgroup • Statement written, Nancy Green coordinated and led the writing • Distributive model based in part on Children’s Oncology Group • POC members emailed, asked to forward to likely participants • >27 experts at 14 current CTSA sites responded with enthusiasm: included experts in metabolic disease, hemoglobinopathies, other screened disorders, public health and ethical issues of newborn screening , etc • Submitted on time, review pending! Proof of concept that CTSA workgroups forming ad hoc networks can function as a platform to support and integrate multi-disciplinary and multi-institutional collaborative research