Road Map for Rare Disease Research

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FORGING PARTNERSHIPS FOR A CURE
Road Map for Rare Disease Research Benefit of
Collaboration Patient Registries and Tissue
Banks Alpha-1 Model September 30, 2006
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Historical - NIH Registry
Primary Goal
7 yr Longitudinal study Compared loss of lung
function of those receiving augmentation
therapy Outcome first treatment approved Further
the understanding of the natural history of
Alpha-1 Collect high quality spirometry to
further the understanding of FEV1 correlates of
emphysema progression
Secondary Goals
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Organizational Infrastructure Supports
Development of New Therapeutics and Ultimately a
Cure

• Accelerating
• Research

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Clinical Trial Recruitment Protocol
Investigator-initiated, IRB approved request
submitted to Registry
Reviewed by Registry PI
PI forwards to Registry Advisory Committee for
Review
Reviewed by the ELSI
ACCEPTED
DECLINED
Database search for subjects that meet criteria
Returned to investigator with comments for
resubmission
Registry participants receive cover letter from
PI, summary of research, copy of research
protocol and letter from investigator
Patients contact study site directly to see if
they qualify to participate
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Alpha-1 Foundation DNA and Tissue Bank
University of Florida/Alpha-1 Foundation
Community owned
Deficient/Carrier/and non-deficient
Informed Consent
Three to Four Teaspoons of Blood
Lung or Liver Tissue prior to transplantation
Research Protocol as Previously Described
Tissue Bank Advisory Committee Survey Data
Collected Exception donors will not be contacted
unless more blood is needed
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Benefits of Collaboration
Shared Resources Control Samples Informed
Consent Equipment Standardize Protocols Oversight
Shared Personnel Intellectual Property Therapeutic
Development
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Intellectual Property
Therapeutic Development