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CoRDS: An Innovative Approach to

Accelerate Rare Disease ResearchA Global Rare Disease Patient Registry at Sanford Research

FMD Chat Together

September 8, 2012

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Todays Presentation

Coordination of Rare Diseases at Sanford

(CoRDS)

What is a Rare Disease?Challenges Rare Disease Research

A Global Patient Registry as a Solution

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About Sanford Research

Cancer BiologyCardiovascular Health

Center for Health Outcomes & Prevention Research

Sanford Childrens Research Center

Edith Sanford Breast Cancer ResearchNational Institute for Athletic Health & Performance

Sanford Childrens Research Center

- 14 Primary Faculty members

- 4 Secondary Faculty- CoRDS registry

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About CoRDS

Coordination ofRare Diseases at Sanford

Established in 2010 by David Pearce, PhD

Global Rare Disease Patient Registry

Institutional Review Board (IRB) Approval

Collects & collates contact & clinical information

Provides a mechanismforretrieval& dissemination

Goal is toAccelerate Research into rare diseases by establishing a central

resource of information on rare diseases and a mechanism to contact

individuals interested in participating in research studies

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Defining Key Terms

What is a Rare Disease?

What is a Patient Registry?

What is an Institutional Review Board(IRB)?

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What is a Rare Disease??

According to the Rare Disease Act of 2002, arare disease is a disease affecting lessthan 200,000 people in the United States

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What is a Patient Registry?

Organized program forcollection, storage, retrievaland

dissemination of a

clearly defined set of data collected

on identifiable individuals for aspecific and specified purpose

SourceRichesson, R. Rare Diseases Epidemiology Advances in Experimental Medicine

and Biology, 2010, Volume 686, Part 2, 87-104.

http://www.springerlink.com/content/978-90-481-9484-1/http://www.springerlink.com/content/978-90-481-9484-1/

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What is an Institutional Review Board (IRB)?

Also known as an independent ethics committee orethical review board, an IRB is a committee that hasbeen formally designated to approve, monitor, &review biomedical and behavioral research involving

humans IRBs approve, require modifications in planned

research prior to approval, or disapprove research.

IRBs are responsible for critical oversight functions for

research conducted on human subjects that are'scientific', 'ethical', and 'regulatory'.

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Rare Disease Timeline: Some key dates

1983 National Organization for Rare Diseases (NORD)

1983 Orphan Drug Act of 1983

1970sVoluntary rare diseases organizations begin to organize

1993 Office of Rare Disease Research (ORDR)

2002 Rare Disease Act of 2002

2006 First Global Rare Disease Day

2010 NORD: 2000+ patient organizations

2010 CoRDS established

2011 Intl Rare Disease Research Consortium

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Rare Diseases By the Numbers

Approximately 7000 rare diseases 25-30 Million in the United States

~50 % Affect Children

~80% Genetic Origin

No Treatments for vast majority

Affect all ages, male and female all over the world

Sources: Science 2010 (12 Nov); 330 : 903

http://www.rarediseaseday.org/article/what-is-a-rare-disease

http://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-diseasehttp://www.rarediseaseday.org/article/what-is-a-rare-disease

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Examples ofRare Genetic Diseases

Cystic Fibrosis (30,000 in US) Batten Disease (2-4 per 100,000 in US) Marfan Syndrome (1 in 5000 worldwide)

Mowat Wilson Syndrome (170 identified)

Glut-1 Deficiency (fewer than 100 cases)

Estimatedthat 5% of the U.S. population of womenover 18 affected by FMD

Unfortunately, even the numbers we do know, is not

standardized

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7000 Different Rare Diseases;

1 Common Patient Experience

Diagnostic Odyssey

No Cure, Often No Treatment Lack of Information Available Peer-To-Peer Communication important

since others are located all over

country/world

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Paradox ofRarity

Diseases may be rare, but

there are manyrare diseases

Source

Paradox of Rarity Rare Diseases: understanding this Public Health Priority European Organization for Rare Diseases(EURODIS) November 2005. Accessed November 2, 2010 at http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf

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Information is Rare

Access to information is a central issue for:

Patients and families

Patient Advocacy Groups

Health Care Providers

Researchers

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Challenges for Researchers to develop

therapy for Rare diseases

Difficult to secure funding

Competition with common diseases

Limited understanding of natural history of rarediseases

Diagnostic approaches & lab tests not always

available, may be expensive or inaccessible

Limited opportunities to test therapies

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Data Collected on Rare Disease is often

Lacking Incomplete Incompatible

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Data can be stored in Information Silos

Presents Issues of..

Data Ownership

Data Harmonization

Data Transfer

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Opportunities to Improve &

Coordinate Efforts

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What is a Patient Registry?

Organized program forcollection, storage, retrievaland

dissemination of a

clearly defined set of data collected

on identifiable individuals for aspecific and specified purpose

Source

Richesson, R Rare Diseases Epidemiology Advances in Experimental Medicine

and Biology, 2010, Volume 686, Part 2, 87-104.

http://www.springerlink.com/content/978-90-481-9484-1/http://www.springerlink.com/content/978-90-481-9484-1/

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Who Can Benefit from Registries?

Patients, families & patient organizations

Any Researchers investigating rare diseases

Healthcare Providers

Epidemiologists studying prevalence

Drug companies developing treatmentsGovernment entities

Source

Rubenstein, Yaffa et al. Creating a global rare disease patient registry linked to a rare diseases

biorepository database: Rare Disease-HUB (RD-HUB) Contemporary Clinical Trials. 2010 Sep;31(5):394-404.Epub 2010 Jul 8

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What is CoRDS?

Global Rare Disease Patient Registry

IRB-Approved Research Study

Collects & collates contact & clinical information

Provides a mechanismforretrievalanddissemination

Accelerate Research into Rare diseases

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Resource to Facilitate Research and

Understanding

Through CoRDS Researchers investigating rare

diseases may

request access to the CoRDS database

log in & locate information to help their research Information is stripped of identifiable information

CoRDS Personnel Contact participants on behalf of the researcher

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What makes CoRDS unique?

Any Researcher with IRB-approval may accessCoRDS following review by CoRDS advisory panel

Global patient registry for ALL rare diseasesIndividuals may have multiple symptoms

Individuals may have multiple diagnoses

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Symptoms Can Overlap among

different rare diseases6 Rare Diseases:

MSA (Multiple System Atrophy) PSP (Progressive Supranuclear palsy)

Corticobasal degneration (CBD)

Ataxia-telangiectasia (AT)

Ataxias and Cerebellar or Spinocerebellar Degeneration Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia

Complex (ALS/PDC)

Common Symptoms:

Balance, Coordination, Difficulties with Speech & Swallowing

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What else makes CoRDS unique?

Option for Rare Disease Patient Groups with no registryOpportunity for Patients with no Patient Group

No cost to organization nor participant to enroll

IRB-approval, secure data collection & managementAny researcher with IRB approval can access CoRDS

following review from CoRDS advisory panel

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CoRDS: Key Project Elements

Participant Recruitment and Enrollment

Data Collection & Data Management

Human Research Protection Program (IRB)

Project Development

Establishing Partnerships

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Participant Enrollment

CoRDS Web Enrollment Launched April 2012

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How Does Someone Enroll?

1. Participant completes CoRDS Registry Form online

2. Participant receives unique username & password

3. Participant logs-in

Provides Informed Consent

Completes CoRDS Questionnaires

4. CoRDS personnel contact participant annually to

update the information

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What Kind of Information is

Collected?The CoRDS Registry collects

contact and clinical information on

individuals diagnosed with

(or pending diagnosis of) any rare disease

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Data Collection Electronic record of Informed Consent and designation of choice

on whether participant agrees to be contacted about futureresearch opportunities

Demographic information such as name, date of birth, gender,

race, ethnicity, survival status & contact information.

Clinical diagnosis information

When/where genetic and other testing was performed, how

diagnosis was made, when symptoms began & family history

Common Data Elements recommended by

National Institute of Health (NIH) Office of Rare Disease Research

C RDS Q ti i

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CoRDS QuestionnairesClinical Contact

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Disease-Specific

QuestionnaireSubtype of Disease

Specific Tests Completed

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How is the Information Managed?

Velos E-Research Software:Web-based portal to collect and collate data

Provides a mechanism to securely collect,modify, display, and report collected participantinformation

Centralized, relational database of rare diseaseinformation that is easily searchable using common

data query (SQL) commands

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55 Rare Diseases Catalogued in CoRDS11q syndrome, 1p36 deletion syndrome, 2q37 deletion syndrome, Adrenoleukodystrophy, Adult Stills Disease,

Alfis Syndrome, Alpha-1 Antripsin deficiency, Alport Syndrome, Anti-Phospholipid Syndrome (APS), Ataxia

Disorder, Batten disease, Behcets 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

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National Rare Disease Foundations

Patient Advocacy Groups

Advocacy Organizations

Hospitals, Clinics

Social Workers

Departments of Health

Advocates for Rare Diseases

Establishing Partnerships:

Collaboration is Paramount

Some CoRDS Partners

http://www.justbreathefoundation.org/

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Some CoRDS Partners

Multiple Endocrine Neoplasia Foundation

APS Foundation

Association of Gastrointestinal Motility Disorders, IncCenter for Disabilities of SD

Coffin-Lowry Syndrome Foundation

Hagemen Foundation

Jeffrey Modell Foundation

PTEN World

Pierpont Syndrome

SD School for the Deaf / SD School for the Blind

http://www.behcets.com/site/pp.asp?c=bhJIJSOCJrH&b=260521http://xlhnetwork.org/http://www.usd.edu/medical-school/http://www.med.und.edu/pediatrics/medical-genetics/index.cfmhttp://www.sdparent.org/http://www.justbreathefoundation.org/http://www.averysangels.org/http://www.sanfordhealth.org/Locations/MedicalCenters/SanfordChildrensHospital/siouxfallshttp://www.teamsanfilippo.org/index.php?option=com_content&view=article&id=5&Itemid=38http://www.mowatwilson.org/http://www.nbstrn.org/http://www.m-cm.net/http://www.cdgs.com/http://www.11qusa.org/

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Community Outreach Annual Sanford Rare Disease Symposium

Global Rare Disease Day Rare Disease Education for Providers and Community

Educational Outreach Sanford PROMISE Discovery Day

PROMISE Life Science Discovery Program Rare Disease Educational Materials

Social Media Raise Awareness of #RareDisease News, Activities, Partners

Bring Together leaders in the Rare Disease Community, Organizations

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2nd Annual Rare Disease Symposium

February 25, 2012

Nearly 200 Attendees

Free CMES

Vendor Booths for CoRDS Partners

Sanford PROMISE lab activity for kids

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3rd Annual Rare Disease Symposium

February 28 & March 1, 2012

Free CMES

Vendor Booths for CoRDS Partners

Sanford PROMISE lab activity for kids Break-out session for Families

7 presentations on research, clinical care, advocacy

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Genetics Lessons (K-12) Life Science Discovery Program

Discovery & Career Day

Sanford Rare Disease Symposium

Sanford PROMISE

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Social Media Organizations share information about CoRDS

via websites, e-newsletters and Social media

http://www.behcets.com/site/pp.asp?c=bhJIJSOCJrH&b=260521http://www.m-cm.net/

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Social Media: The Power to Connect

SCAD (Spontaneous Coronary Artery Dissection)2 SCAD patients recruited others via social media

In 1 week, 18 participants identified

Difficult for researchers to ID patients

Patients Motivated to Contribute

Source: Wall Street Journal When Patients Band Together

http://online.wsj.com/article/SB10001424053111903352704576538754057145360.html

http://www.youtube.com/watch?v=DuWfNcvdAuI&feature=player_embeddedhttp://www.youtube.com/watch?v=DuWfNcvdAuI&feature=player_embeddedhttp://www.youtube.com/watch?v=DuWfNcvdAuI&feature=player_embedded

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Future Steps

Regional Expansion

National / International Expansion

Enrollment via Sanford Clinics

CoRDS BiobankParticipation in International RareDiseases Research Consortium (IRDiRC)

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International Rare Disease Research

Consortium (IRDiRC)

Coordinates international collaborative efforts of leaders

industry & research dedicated to rare disease

2 main objectives by the year 2020:

deliver 200 new therapies for rare diseasesdiagnostic tools for most rare diseases.

Dr. David Pearce nominated to IRDiRC Executive

Committee (February 2012)

Sanford Research is one of 25 committed members and 1or 3 from US that is not part of NIH

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Acknowledgements

FMD Chat

CoRDS Partners

Sanford Human Protections Research Program

(Institutional Review Board - IRB)

Sanford Research Information Technology (RIT)

Sanford Marketing: Brand, Digital Strategies

Sanford Health Clinics and Providers

Sanford Health Foundation

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Provides a resource that is important to the developmentof effective treatments for rare diseases

Fulfills the immense need to improve access to information& accelerate research efforts into rare diseases

Is a large step towards tackling disorders that are

devastating for thefewwho suffer from them

Coordination ofRare Diseases at Sanford

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For More Information on Rare DiseasesOffice of Rare Disease Research (ORDR)

http://rarediseases.info.nih.gov

National Organization for Rare Disorders (NORD)http://www.rarediseases.org/

International Conference on Rare Diseases (ICoRD)http://www.prip-tokyo.jp/icord2012/

International Rare Diseases Research Consortium (IRDiRC)

http://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.html

http://rarediseases.info.nih.gov/http://www.rarediseases.org/http://www.rarediseases.org/http://www.prip-tokyo.jp/icord2012/http://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://ec.europa.eu/research/health/medical-research/rare-diseases/events-03_en.htmlhttp://www.prip-tokyo.jp/icord2012/http://www.prip-tokyo.jp/icord2012/http://www.prip-tokyo.jp/icord2012/http://www.rarediseases.org/http://rarediseases.info.nih.gov/

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Thank you for your partnership!

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For More Information on CoRDS

Liz Donohue

Director, Coordination of Rare Diseases at Sanford

2301 E 60th Street N | Sioux Falls, SD 57104

605-312-6413

Liz.Donohue@sanfordhealth.org

www.sanfordresearch.org/cords

http://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cordshttp://www.sanfordresearch.org/cords