Canadian Expert Patients in Health Technology Conference Nov 7 – 8, 2016 Angela VanVeldhuizen (Sanford Health) Registries: CoRDS

1. A
Pa%ent
Registry
for
All
Rare
Diseases:
Coordina(on
of
Rare
Diseases
at
Sanford
(CoRDS)
Angela
Van
Veldhuizen,
RN,
BSN
Project
Manager,
Coordina(on
of
Rare
Diseases
at
Sanford
Sanford
Research

2. Objec%ves
• Background
of
Sanford
and
CoRDS
• CoRDS
Mission
• CoRDS
Data
• CoRDS
Partnerships
• Future
opportuni(es

5. Mission:
To
accelerate
research
into
rare
diseases
Goal:
To
establish
an
interna(onal
rare
disease
pa(ent
registry
for
all
rare
diseases
• Established
by
David
Pearce,
PhD
in
2010
• Create
resource
of
contact
informa(on
and
clinical
data
on
individuals
diagnosed
with
any
rare
disease
to
enable
a
compara(ve
analysis
across
diseases
• Connect
researchers
to
par(cipants
interested
in
par(cipa(ng
in
research
• Partner
with
pa(ent
advocacy
groups
to
create
disease
specific
registries
and
natural
history
studies
• IRB
approval
*The
term
“disease”
is
used
to
encompass
all
rare
condi(ons.
About
CoRDS
Curate
Disease-­‐Specific
Data
Via
Contracted
PAG
Partnerships
Standardize
Rare
Disease
Data
&
Common
Data
Elements
(CDEs)
Contact
Registry

6. What
is
a
registry?
• On-­‐going
exhaus(ve
systems
of
data
collec(on
of
pa(ents
with
the
same
disease(s)
from
a
geographically
defined
popula(on
over
an
extended
period
of
(me
–
EURODIS
Policy
Fact
Sheet,
2011
• …an
organized
system
that
uses
observa(onal
study
methods
to
collect
uniform
data
(Clinical
and
other)
to
evaluate
specified
outcomes
for
a
popula(on
defined
by
a
par(cular
disease,
condi(on,
or
exposure,
and
that
serves
one
or
more
predetermined
scien(fic,
clinical,
or
policy
purposes.
–
Registries
for
Evalua>ng
Pa>ent
Outcomes,
second
edi>on,
AHRQ,
2010
• A
registry
is
a
collec(on
of
informa(on
about
individuals,
usually
focused
around
a
specific
diagnosis
or
condi(on.
–
NIH,
hYps://www.nih.gov/health-­‐informa(on/nih-­‐clinical-­‐research-­‐trials-­‐you/
list-­‐registries
• Contact
registries
collect
basic
demographic
and
contact
data

7. 11Q
SYNDROME,
1P36
DELETION
SYNDROME,
2Q37
DELETION
SYNDROME,
ADRENOLEUKODYSTROPHY,
ADULT
STILL’S
DISEASE,
ALFI’S
SYNDROME,
ALPHA-­‐1
ANTRIPSIN
DEFICIENCY,
ALPORT
SYNDROME,
ANTI-­‐PHOSPHOLIPID
SYNDROME
(APS),
ATAXIA
DISORDER,
BATTEN
DISEASE,
BEHCET’S
DISEASE,
BRRS
PTEN
MUTATION,
CHARCOT
MARIE
TOOTH,
CHIARI
MALFORMATION,
COFFIN
LOWRY
SYNDROME,
COMMON
VARIABLE
IMMUNE
DEFICIENCY
(CVID)
,
CONGENITAL
DISORDER
OF
GLYCOSYLATION
(CDG),
CONGENITAL
UPPER
STERNAL
CLEFT,
COSTELLO
SYNDROME,
DUPLICATION/DELETION
OF
4P
CHROMOSOME,
DUPLICATION
OF
THE
16TH
CHROMOSOME,
EMANUEL
SYNDROME,
EURYBLEPARON,
GLUT1
DEFICIENCY
SYNDROME,
GLUCOSE
TRANSPORTER
DEFICIENCY,
HASHIMOTO
SYNDROME,
HEREDITARY
SPASTIC
PARAPLEGIA,
HIDS
SYNDROME,
LEUKODYSTROPHY-­‐LIKE
SYNDROME,
LISSENCEPHALY,
MICROCEPHALY,
MILLER-­‐DIEKER
LISSENCEPHALY,
MITOCHONDRIAL
DISEASE,
MOWAT-­‐WILSON
SYNDROME,
MPS
IIIA,
MPS
IV/
MAROTEAUX-­‐LAMY
SYNDROME,
NEUROFIBROMATOSIS,
NOONAN
SYNDROME,
OPD
SYNDROME,
OSTEOGENESIS
IMPERFECTA,
PIERPONT
SYNDROME,
PKU,
PRIMARY
SCLEROSING
CHOLANGITIS,
PROTEIN
C
&
S
DEFICIENCY,
PULMONARY
VEIN
STENOSIS,
SANFILIPPO
SYNDROME
TYPE
A,
SANFILIPPO
SYNDROME
TYPE
B,
SELECTIVE
ANTIBODY
DEFICIENCY,
SMITH-­‐LEMLI
OPITZ,
TRISOMY
14,
TRISOMY
22,
WEST
SYNDROME,
WOLCOT-­‐RALLISON
SYNDROME,
XP
DUPLICATION,
XXYY
SYNDROME
11Q
SYNDROME,
1P36
DELETION
SYNDROME,
2Q37
DELETION
SYNDROME,
ADRENOLEUKODYSTROPHY,
ADULT
STILL’S
DISEASE,
ALFI’S
SYNDROME,
ALPHA-­‐1
ANTRIPSIN
DEFICIENCY,
ALPORT
SYNDROME,
ANTI-­‐PHOSPHOLIPID
SYNDROME
(APS),
ATAXIA
DISORDER,
BATTEN
DISEASE,
BEHCET’S
DISEASE,
BRRS
PTEN
MUTATION,
CHARCOT
MARIE
TOOTH,
CHIARI
MALFORMATION,
COFFIN
LOWRY
SYNDROME,
COMMON
VARIABLE
IMMUNE
DEFICIENCY
(CVID)
,
CONGENITAL
DISORDER
OF
GLYCOSYLATION
(CDG),
CONGENITAL
UPPER
STERNAL
CLEFT,
COSTELLO
SYNDROME,
DUPLICATION/DELETION
OF
4P
CHROMOSOME,
DUPLICATION
OF
THE
16TH
CHROMOSOME,
EMANUEL
SYNDROME,
11Q
SYNDROME,
1P36
DELETION
SYNDROME,
2Q37
DELETION
SYNDROME
CHARCOT
MARIE
TOOTH,
CHROMOSOME
CoRDS
Registry
The
CoRDS
registry
collects
&
organizes
contact
and
clinical
informa(on
on
individuals
diagnosed
with
a
rare
disease
as
well
as
those
undiagnosed

8. Registry
≠
Natural
History
• Natural
history
is
the
natural
course
of
the
disease
from
the
(me
immediately
prior
to
its
incep(on,
progressing
through
its
pre-­‐symptoma(c
phase
and
different
clinical
stages
to
the
point
where
the
disease
has
ended
without
external
interven(on
–
FDA
R01
Natural
History
Study
RFA
• 3
types
of
natural
history
studies
– Prospec(ve,
longitudinal
(increased
(me
frame)
– Snap
shot
(short
(me
frame)
– Retrospec(ve
• Both
natural
history
studies
and
registries
are
important
for
rare
diseases

9. What
makes
CoRDS
unique?
• First
of
its
kind;
central
resource
for
all
rare
diseases;
allows
for
compara(ve
analysis
across
diseases
– Pa(ent
reported
data
• Any
researcher
with
IRB
approval
would
have
access
to
the
informa(on
pending
review
from
scien(fic
advisory
board
• Unique
collabora(on
with
pa(ent
groups
to
establish
a
registry
and
customize
a
disease
specific
ques(onnaire
• No
cost
for
pa(ents
and
families
to
enroll,
no
cost
for
researchers
to
access,
no
cost
for
pa(ent
groups
to
start
a
registry

10. Accommoda%ons
• Ways
to
Enroll/Update:
– Phone
(Vision
Impaired)
– Email
(Alterna(ve
to
troubleshoo(ng
or
for
users
with
non-­‐compa(ble
devices)
– Mail
~
19%
(Users
without
computers)
– Online
~
81%
• Communica(on
Preferences
• Special
Communica(on
Accommoda(ons

11. All
Par%cipants
Complete
CoRDS
Standard
Module
Demographic
informa/on:
• Name
• Date
of
birth
• Gender
• Race
• Contact
informa(on
• Data-­‐sharing
preferences
*Includes
Common
Data
Elements
(CDEs)
as
recommended
by
the
Na(onal
Ins(tute
of
Health
(NIH).

12. CoRDS
Data
• Over
3,000
enrolled
individuals
• Over
50
countries
outside
the
United
States
• >450
rare
diseases
• 25%
have
previously
donated
a
biospecimen
• 92%
willing
to
be
contacted
for
research
opportuni(es

13. CoRDS
Top
20
Diseases
Diagnosis Count Diagnosis Count
Idiopathic hypersomnia 326 Spinocerebellar ataxia type 6 95
Undiagnosed 184 Kawasaki disease 73
Friedreich ataxia 142 Narcolepsy 72
Spinocerebellar ataxia type 3 124 Spinocerebellar ataxia type 2 72
Ataxia - other 120 Spinocerebellar ataxia type 1 68
Isolated Klippel-Feil syndrome 119 Sporadic adult-onset ataxia of
unknown etiology
65
Hyperacusis (Hyperacousis) 117 Wolf-Hirschhorn syndrome 64
Spinocerebellar ataxia-unknown 117 WAGR syndrome 63
Behcet disease 103 Stickler syndrome 50
Cornelia de Lange syndrome 102 Hypophosphatasia 47

14. Data
Integra%on
with
NIH/NCATS
GRDR
Program
• Aim
of
the
Global
Rare
Disease
Repository
program
is
to
develop
a
Web-­‐based
resource
that
aggregates,
secures
and
stores
de-­‐
iden(fied
pa(ent
informa(on
from
different
rare
diseases,
all
in
one
place
• Over
15
different
registries
• GUID
genera%on
from
name,
date
of
birth,
gender,
place
of
birth
• Collect
all
other
required
CDE’s
• CDE’s
adopted
as
advised
by
the
NIH
Office
of
Rare
Disease
Research
(ORDR)
• De-­‐iden%fied
CoRDS
Standard
ques(onnaire
and
disease
specific
ques(onnaires
uploaded
to
GRDR
• 94%
have
≥6
of
7
CDE’s
required
for
a
GUID

15. 92%
1%
2%
5%
I
give
my
permission
to
CoRDS
to
contact
me
about
par%cipa%ng
in
future
research
studies
Yes
No
Don't
Know
Blank
(NA)
6%
25%
63%
6%
Who
is
comple%ng
the
ques%onnaire?
LAR
Parent/Guardian
Adult
Blank
(NA)

16. Crea%ng
Successful
Partnerships
• Most
PAGs
lack
sufficient
resources
• PAG
needs
• Customized
ques(onnaires,
support
staff,
sovware
system
• Access
to
data
for
non-­‐Research
purposes
• Researcher
review
process
• CoRDS
resources
• IRB
and
IT
personnel
in
house
• CoRDS
staff
supports
enrollment
• Sovware
infrastructure
for
secure
data
collec(on
&
management
*PAGs
are
key
stakeholders
in
the
design
process,
no(fy
their
members
and
researchers

17. PAG
Data
• All
partners
have
Data
Sharing
Permissions
• I
give
permission
to
CoRDS
to
provide
my
informa(on
that
may
or
may
not
be
iden(fiable*
to
the
following
Pa(ent
Advocacy
Group
(PAG)
for
non-­‐research
purposes.
• More
specified
diagnosis
• Specific
diagnos(c
methods
• Organ
and
organ
systems
• QoL
and
ra(ng
scales
• Inheritance
paYern
• Medical
and
clinical
tes(ng
results

18. Diagnosis
list
(>7,000)
LMS
Individuals
with
LMS
that
are
not
“affiliated”
with
LMSdr
2
Deny
to
share
with
LMSdr
8
of
10
agree
to
share
Important
Notes:
-­‐ NO
iden(fying
informa(on
is
sent
to
ANY
partner
-­‐ Par(cipants
in
the
registry
decide
who
they
share
their
data
with
-­‐ PAG
ques(onnaire
data
is
only
shared
with
that
specific
PAG
-­‐ Par(cipants
can
skip
any
ques(ons
at
any
(me

19. Opera%onal
Challenges
• Pa(ents
are
oven
mo(vated,
but
it
is
difficult
to
iden(fy
them
• Establishing
Partnerships
with
organiza(ons
• Trust
is
a
key
issue
• Need
to
recruit
globally
in
order
to
accrue
adequate
pa(ent
popula(ons
• Rela(onship
Management
• Data
Cura(on
• Cri(cal
to
ensure
pa(ents
aren’t
lost
to
follow-­‐up

20. Rare
Informs
the
Common
• Research
and
treatments
for
rare
diseases
can
also
benefit
treatment
of
common
diseases
• Educa(on,
Advocacy,
and
Par(cipa(on
are
key

21. • Na(onal
and
Interna(onal
Pa(ent
Advocacy
Groups
• Local
Rare
Disease
Chapters
• Researchers
• Physicians
• Hospitals
and
Clinics
• Departments
of
Health
(NIH)
• Government
Agencies
(FDA)
• Commercial
en((es
(pharmaceu(cal
companies)
Collabora/on
is
Paramount…

22. How
do
researchers
access
CoRDS?
• Submit
brief
applica(on
to
CoRDS
Scien(fic
Advisory
Board
– Study
protocol
– IRB
approval
– IRB
approved
contact
documents
1.
Access
de-­‐iden(fied
subject
data
for
analysis
2.
Iden(fy
par(cipants
that
are
eligible
for
specific
research
studies
– CoRDS
personnel
contact
par(cipants
on
behalf
of
the
researcher

23. Sanfordresearch.org/cords

25. CoRDS
Team
David
Pearce,
PhD
Founder,
PI
Aus%n
Letcher
Senior
Research
Associate
Alyssa
Mendel
Research
Associate
Angela
Van
Veldhuizen,
RN
Project
Manager

26.
Thank
you!
Ques(ons?
Angela
Van
Veldhuizen,
RN,
BSN
Project
Manager,
CoRDS
605.312.6426
Angela.Vanveldhuizen@sanfordhealth.org
www.sanfordresearch.org/cords
26