Rare Diseases Rare Diseases Clinical Research Network Clinical Research Network Progress Report Progress Report National Advisory Research Resources National Advisory Research Resources Council Council September 21, 2006 September 21, 2006 Ronald J. Sokol, M.D. Ronald J. Sokol, M.D. Chair, Steering Committee, RDCRN Chair, Steering Committee, RDCRN
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Rare Diseases Rare Diseases Clinical Research NetworkClinical Research Network
Progress Report Progress Report National Advisory Research Resources CouncilNational Advisory Research Resources Council
September 21, 2006September 21, 2006
Ronald J. Sokol, M.D.Ronald J. Sokol, M.D.Chair, Steering Committee, RDCRNChair, Steering Committee, RDCRN
BackgroundBackgroundThe Problem:The Problem:• ~ 25 million people in the United States are affected by ~ 25 million people in the United States are affected by
one of approximately 6000 rare diseases:one of approximately 6000 rare diseases:
• <200,000 individuals affected in the U.S. - or -<200,000 individuals affected in the U.S. - or -
• for which no reasonable hope of new industry-for which no reasonable hope of new industry-
sponsored drug development can be expectedsponsored drug development can be expected
Rare Diseases Clinical Research Network Rare Diseases Clinical Research Network
(RDCRN):(RDCRN):• Established in 2003 - 5 year periodEstablished in 2003 - 5 year period
• Four Rare Disease Consortia Four Rare Disease Consortia TenTen by 2004 by 2004
• One Data and Technology Coordinating CenterOne Data and Technology Coordinating Center
• To develop improved diagnostic methods & To develop improved diagnostic methods & treatments for rare diseases by facilitating treatments for rare diseases by facilitating translational research and collaboration between translational research and collaboration between investigators, patient support groups, and the investigators, patient support groups, and the NIH NIH
• To utilize translational research to improve the To utilize translational research to improve the lives of individuals affected by rare diseaseslives of individuals affected by rare diseases
• To develop innovative, scalable techniques for To develop innovative, scalable techniques for conducting clinical research in rare diseasesconducting clinical research in rare diseases
Goals of RDCRNGoals of RDCRN
• Develop innovative tools to collect and manage Develop innovative tools to collect and manage geographically distributed clinical research data geographically distributed clinical research data using standardized data elementsusing standardized data elements
• Conduct clinical-translational research on Conduct clinical-translational research on multiple rare diseases including:multiple rare diseases including:
Longitudinal studies, Diagnostics, and Longitudinal studies, Diagnostics, and Therapeutic trials Therapeutic trials
• Provide training in clinical research on rare Provide training in clinical research on rare diseasesdiseases
• Improve (Web) access to information about rare Improve (Web) access to information about rare diseases; involvement of PAGsdiseases; involvement of PAGs
Configuration of the Configuration of the NetworkNetwork
Geographic Distribution - CentersGeographic Distribution - Centers
CLiCCLiC
RLDCRLDC
ARPWCARPWC
GDMCCGDMCC
UCDCUCDC
VCRCVCRC
BMFDCBMFDC
CINCHCINCH
RGSDCRGSDC
RTDCRTDC
NIHNIH
DTCCDTCC
Geographic Distribution - Clinical SitesGeographic Distribution - Clinical Sites
Toronto,Toronto,CanadaCanada
Paris, Paris, FranceFrance
Edinburgh, Edinburgh, UKUK
Cambridge,Cambridge,UKUKGroningen, Groningen,
NetherlandsNetherlands
TokyoTokyoJapanJapan
Melbourne,Melbourne,AustraliaAustralia
Sao Paulo,Sao Paulo,BrazilBrazil
Lyon,Lyon,FranceFrance
QuebecQuebecCanadaCanada
Bad Bramstedt,Bad Bramstedt,GermanyGermany
LondonLondon
55 Medical institutions32 GCRCs
34 Patient Advocacy Groups34 Patient Advocacy Groups• Alpha-1 FdnAlpha-1 Fdn• Alagille Syndrome AllianceAlagille Syndrome Alliance• American Liver FdnAmerican Liver Fdn• Androgen Insensitivity Support Androgen Insensitivity Support
GroupGroup• Angelman Syndrome FdnAngelman Syndrome Fdn• Aplastic Anemia and MDS Aplastic Anemia and MDS
International Fdn International Fdn • CARES FdnCARES Fdn• Churg-Strauss Syndrome AssnChurg-Strauss Syndrome Assn• Children’s Liver Assn for Support Children’s Liver Assn for Support
Family Network FdnFamily Network Fdn• Periodic Paralysis AssnPeriodic Paralysis Assn• Platelet Disorder Support AssnPlatelet Disorder Support Assn• PNH Support GroupPNH Support Group• Polyarteritis Nodosa Support Polyarteritis Nodosa Support
News Coverage of Rare Disease News Coverage of Rare Disease Clinical Research Network LaunchClinical Research Network Launch
Expansive Effort Is Begun to Study Rare Diseases
The National Institutes of Health has started the first of what will eventually be about 50 clinical studies looking into a variety of rare diseases and disorders.
The research involves 10 research consortia studying groups of related rare, and sometimes fatal, diseases that can develop shortly after birth. In most cases, the diseases -- which range from rare blood, liver and lung disorders to a condition that causes temporary paralysis -- lack effective treatments. The NIH is putting $71 million toward the effort over a five-year period.
Studies Open and EnrollingStudies Open and Enrolling
• Enrolling since Jan., 2006Enrolling since Jan., 2006
• 25 approved protocols25 approved protocols
20 enrolling patients – assistance of PAGs20 enrolling patients – assistance of PAGs
• 21 studies under development or current review 21 studies under development or current review by the PRCs or DSMBs, including:by the PRCs or DSMBs, including:
New Diagnostic CapabilitiesNew Diagnostic Capabilities
• CETT Program and CLiCCETT Program and CLiC
• Need for clinical verification of research Need for clinical verification of research genetic testing in CLIA approved laboratorygenetic testing in CLIA approved laboratory
• No clinical testing available for PFIC diseasesNo clinical testing available for PFIC diseases
• Dr. Lee Jun Wong at Baylor, Houston – CETT Dr. Lee Jun Wong at Baylor, Houston – CETT funding (ORD, NIDDK) to set up funding (ORD, NIDDK) to set up MDR3MDR3, , FIC1FIC1 and and BSEPBSEP genotyping genotyping
• Available for CLiC patients (insurance will be Available for CLiC patients (insurance will be charged) and for non-research patientscharged) and for non-research patients
Fellowship TrainingFellowship Training
• 35 current or former trainees35 current or former trainees
• Local trainingLocal training
• Network activitiesNetwork activities
• Evening poster session and keynote speaker Evening poster session and keynote speaker for trainees – April, 2007for trainees – April, 2007
• Invite Trainees to SC meeting next day – Invite Trainees to SC meeting next day – scientific presentations by Consortiascientific presentations by Consortia
• Day-long, academic skills workshop for Day-long, academic skills workshop for research in rare diseases – Sept., 2007research in rare diseases – Sept., 2007
• R13 applicationR13 application
Network Pilot AwardsNetwork Pilot Awards
• New program – 2006-2007New program – 2006-2007
• ORD - $600,000 funds for six pilots – diagnostics ORD - $600,000 funds for six pilots – diagnostics or treatmentor treatment
• Application procedure developedApplication procedure developed
• Each Consortium could submit one applicationEach Consortium could submit one application
• e.g., Biomarker study in Urea Cycle e.g., Biomarker study in Urea Cycle Consortium, New molecular techniques for Consortium, New molecular techniques for genetic evaluation in ciliary disorders of lunggenetic evaluation in ciliary disorders of lung
New Grants and Funding SourcesNew Grants and Funding Sources
• Consortia have obtained additional funding to Consortia have obtained additional funding to support activities:support activities:
• Alpha One FoundationAlpha One Foundation
• Supports fellow in Rare Lung Disease C.Supports fellow in Rare Lung Disease C.
• Supports enrollment site in CLiCSupports enrollment site in CLiC
• National Urea Cycles Disorders FoundationNational Urea Cycles Disorders Foundation
• Supporting clinical trial in Urea Cycle C.Supporting clinical trial in Urea Cycle C.
• R01 and R03 supportR01 and R03 support
• Use of GCRCsUse of GCRCs
Thank YouThank You
• Consortia investigators and study Consortia investigators and study coordinatorscoordinators
• DTCC – Jeff Krischer and colleaguesDTCC – Jeff Krischer and colleagues