Sharon F' Terry

1
Development of a Genetic Test for PXE
Patients Role in Research Translation

• Sharon F. Terry
• Executive Director, PXE International
• President CEO, Genetic Alliance
• May 20, 2004

2
Elizabeth and Ian
Diagnosed December 23, 1994
3
Challenges for Rare Disease Research

• Limited pool of participants
• Competitive and fragmented research
  environment
• Inadequate funding

4
Problems Caused by these Challenges

• Redundant small collections
• Poor confidentiality protections
• Variable informed decision making process
• Inaccurate disease characterization
• Lack of research focus, initiative
• Limited reporting to participants

5
LOGIC Data Collection Data Integration
Time/Serendipity Knowledge
PXE Gene
Therapeutic Treatment
6
Credibility Within Research Community
7
BioBanks
BioBank
BioBank
BioBank
57 Support Offices Worldwide 2700 Consented
Individuals in PXE Registry 1500 Pedigrees 1500
DNA Samples in BioBanks Tissue Samples Cell
Lines Extensive Epidemiological Data Medical
Records
Credibility Within Affected Individuals
Community
8
BioBank Strong Catalyst for Accelerated,
Coordinated, Ethical Research
9
PXE International
Participants
Research Enterprise

• Informed Consent
• Process
• Blood Tissue bank
• identifiers
• Reporting
• Recontacting
• Education
• Coordination of labs
• Wide dissemination to
• all approved labs

Firewall
10
WAVE dHPLC SystemCentralized
De-centralization

• Rapid mutation detection
• Fully-automated
• Advanced detection
• Computer-controlled
• Advanced applications
• Web interface
• Integrated Informatics

www.transgenomic.com NASDAC TBIO
11
Data Collection

• PXE International facilitated optimization of the
  WAVE based test
• Labs refine and share their protocols
• Labs revise their protocols - coming to consensus
  on basic elements
• Test reached 80 detection rate (95 hoped for)
• Transgenomic refines all of the protocols
• Transgenomic produces a kit