National Ataxia Registry - National Ataxia Foundation

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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
• “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
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
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
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
National Ataxia Registry
National Ataxia Registry – page 1
National Ataxia Registry – page 2
Clinical Information Page
Clinical Information Page 2
Clinical Information page 3
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
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
Current status
•
•
•
•
•
In NAR database
Contacted
Awaiting ICF
Active
Complete
816
372
135
65
168
Current status
•
•
•
•
•
•
•
•
SCA 3
SCA 6
FA
SCA 2
SCA 1
Sporadic
Unknown types
Others:
43
41
34
26
26
33
80
SCA7, SCA 14, SCA 17, AOA
2, DRPLA, congenital
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
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
Acknowledgements
Tommy Zhu, the man down-under
Bill Hartnett
Marty Ohmann
Thanks also to…
•
•
•
•
Phuong Deleyrolle
Sue Hagen
Tiara Ong
T.Ashizawa
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