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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
Objec%ves
• Background of Sanford and CoRDS • CoRDS Mission • CoRDS Data • CoRDS Partnerships • Future opportuni(es
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
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
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
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
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
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
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).
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
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
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
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)
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
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
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
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
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
• 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…
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
Sanfordresearch.org/cords
CoRDS Team
David Pearce, PhD Founder, PI
Aus%n Letcher Senior Research
Associate
Alyssa Mendel Research Associate
Angela Van Veldhuizen, RN Project Manager
Thank you! Ques(ons? Angela Van Veldhuizen, RN, BSN Project Manager, CoRDS 605.312.6426 [email protected] www.sanfordresearch.org/cords
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