Wilson Disease Research and Care. Looking Forward Ann Arbor, Michigan September 6, 2014 Fred Askari MD, PhD
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1 Wilson Disease Research and Care Looking Forward Ann Arbor, Michigan September 6, 2014 Fred Askari MD, PhD
2 The Future is Bright Improved Access to Care Improved Diagnostics Earlier Diagnosis New Treatments New Monitoring Telemedicine Data Driven Recommendations Patient Registry Accelerate Research Tissue Repository
3 Access to Care Affordable Care Act Electronic Medical Records Patient Assistance Programs for Medications
4 Earlier Diagnosis NBS-Newborn Screening Potential for Birth Screening add to tests such as PKU DNA diagnostics, whole genome screening Improved algorithm based care, sibling and family screening
5 Potential New Treatments Choline TM Once daily zinc Once daily trientine RNA inhibitors Gene therapy Transplant Advances Stem Cells
6 New Symptom Treatment Improved Psychiatric Medications and Therapy New Movement Disorder Medications DBS Deep Brain Stimulation Speech Augmentation Devices Antifibrotic Medications to reverse liver scar tissue
7 New Treatment Monitoring Improved serum copper testing Serum Free Copper testing Home monitoring of copper status Monitoring of Medication Adherence
8 Telemedicine Distance Disease Conferences and Disease Board Pathway Patient & Physician Telemedicine Pathway Physician & Physician Telemedicine Pathway
9 Patient & Physician Telemedicine Sustainability Synchronous telemedicine two way interaction. Michigan state law Requires insurance coverage, other states may not Asynchronous telemedicine storing and reviewing distant data, reporting back. Not a covered service, so patients reimburse out of pocket, or health system may support if it loses less money for indigent care
10 Telemedicine Promise and Challenges Convenience and Savings to the patient Specialized expertise to an underserved region Marketing Outreach & Increased Compliance Privacy HDX7000 codec based videoconference room; consent for privacy/security risks Physician May Need to be Licensed in other Sites, may be less stringent for physician to physician consultation
11 Would patients like Telemedicine? Saves on travel costs Access to hardware with secure link for conference Interactions with ancillary staff Reimbursement issues No physical exam may compromise care No in person interaction
12 Patient Registry Every Rare Disease wants one Patient Disease Registries are collections of clinical data related to patients with a specific diagnosis, condition, or procedure Used to track outcomes, remind patients to get testing, and track quality goals Postmarketing information about medications Screen for clinical trial eligibility
13 Registry Structure May be simple or sophisticated shoebox with index cards complex multi center electronic Data entry and Validation are a key to success
14 Lessons from EuroWilson Registry Early enthusiasm Short Term Funding Failure to coordinate and work together across centers Failure to validate data and enter completely Waste of effort and resources if not done correctly
15 Registry Utility Evaluate safety and effectiveness of orphan drugs post marketing Make Data Driven Recommendations Evidence based medicine
16 Registry Integrity Quality Based On Quality Fed In Does everyone have the disease? Up to Date Who maintains integrity, centrally or locally? Who has access to the data?
17 To Registry and Beyond Repository Repository Provides samples for research Not just data, but blood urine and even tissue samples correlated with patient clinical data Collection Storage Access Powerful if large and well catalogued Lessons from Tissue Banking
18 Summary Working together, the future is bright Hope Advocacy Take Treatment and Monitor Status!
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