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NATIONAL ATAXIA REGISTRY

NATIONAL ATAXIA REGISTRY. S H Subramony M.D. Professor of Neurology McKnight Brain Institute at University of Florida, Gainesville, FL. What is the National Ataxia Registry?. Database that collects basic information on patients with “degenerative” ataxia

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NATIONAL ATAXIA REGISTRY

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  1. NATIONAL ATAXIA REGISTRY S H Subramony M.D. Professor of Neurology McKnight Brain Institute at University of Florida, Gainesville, FL

  2. What is the National Ataxia Registry? • Database that collects basic information on patients with “degenerative” ataxia • “Contact” registry: contact information and diagnosis • “Curated”: we confirm the diagnosis as much as possible • What type of patients can participate? • Patients with ataxia not caused by an obvious and known disease like MS, strokes, tumors, infections etc • Patients with inherited and sporadic ataxias of all types

  3. Purpose of the registry • Facilitate clinical research including drug trials in the field of ataxias • Bring appropriate research groups in touch with the right group of patients • Caveats • Registry participation does not guarantee participation in a drug trial • You do not commit to participation in any trial or study • Especially useful in the field of rare diseases

  4. Who can participate • Inherited ataxias • Dominant (SCA 1,2,3,5,6,7,8,10,12,13,14,17,DRPLA, other uncertain types) • Recessive (FA, AOA, POLG/MIRAS, AT, other types) • Mitochondrial, X-linked including FXTAS • Sporadic ataxia (MSA, OPCA, idiopathic ataxia) • Congenital ataxia • Any other degenerative ataxias including gluten ataxia, GAD ataxia • All inclusive

  5. Registry process • Visit the web site (directly or through the NAF web site) www.nationalataxiaregistry.org • Click on new user log in on home page • Enter essential contact information on page 2 • Enter and confirm e mail address, choose a password and a security question on page 3 • Print informed consent from page 4 • Registry personnel will contact you for telephonic consent before activating the account • Once activated you will be able to log back and enter diagnostic details and basic information on “functional stage” KEEP PASSWORD/SECURITY QUESTION WRITTEN IN SECURE PLACE SEND COPY OF KEY DIAGNOSTIC DOCUMENT WITH CONSENT

  6. National Ataxia Registry

  7. National Ataxia Registry – page 1

  8. National Ataxia Registry – page 2

  9. Clinical Information Page

  10. Clinical Information Page 2

  11. Clinical Information page 3

  12. Some key points • Secure link and encrypted transmission (industry standard/SSL mechanism); encrypted passwords using one way mechanism (Hash) • Supported by the NAF • Software creation by a dedicated volunteer group from HP-EDS with previous experience with the FARA registry • Participation entirely voluntary • Can withdraw your participation by contacting registry personnel

  13. Process for data sharing • Access to data only by registry PI and designated co-workers • Interested researchers will submit IRB approved protocol with request for specific patient groups • Second review of the scientific and ethical merits by the advisory committee • Researcher-patient contact

  14. Current status • In NAR database 816 • Contacted 372 • Awaiting ICF 135 • Active 65 • Complete 168

  15. Current status • SCA 3 43 • SCA 6 41 • FA 34 • SCA 2 26 • SCA 1 26 • Sporadic 33 • Unknown types 80 • Others: SCA7, SCA 14, SCA 17, AOA 2, DRPLA, congenital

  16. Stumbling blocks • Telephonic consent process required by UF IRB • Time between initial contact and consent process • Requirement for multiple phone/e mail communications • Loss of passwords • Loss of follow through and failure of completion • Personnel turnover • Occasional site malfunction • Computer issues (unable to download etc) • No internet access

  17. The Informed Consent Process • Both national and local regulations • IRB requirements • Language • Who can do it • Personal contact • Web based consent has been used by many registries • Dialog with UF IRB in progress • Goal: web based consent and one step registration

  18. Acknowledgements Tommy Zhu, the man down-under

  19. Bill Hartnett

  20. Marty Ohmann

  21. Thanks also to… • Phuong Deleyrolle • Sue Hagen • Tiara Ong • T.Ashizawa

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