Changing times ask for solid relationships. Times are changing. A renewed interest from big pharma in the rare disease landscape has awakened due to large-scale patent expirations, competition from generics & biosimilars, anemic pipelines, escalating clinical trial costs and a global health-care reform. This means that the traditional blockbuster model has become less viable while the revenue-generating potential of orphan drugs has shown to be huge with a greater return on investment than non-orphan drugs. According to EvaluatePharma, the orphan drugs sales will grow at an annual rate of 11% and constitute 19% of the total share of prescription drugs by 2020, totalling 176 billion dollars. The rare disease landscape is very complex due to the large amount of stakeholders involved. Despite their different interests they have one goal in common: getting an orphan drug approval that will help save or improve lives. But there are many challenges on the road to orphan drug designation: • Complex and changing national and regional regulations • Clinical trial design and finding & keeping patients • The lack of a central database designed specifically to list patient registries, which asks for close stakeholder engagement • Partnering and establishing financing for future development • Establishing a foundation for price that is balanced and sustainable • Achieving an efficient and timely access to market with equal access for patients around the world • Achieving timely and correct diagnosis to enable higher quality of life and more time and information for developers More information: http://www.orphandrugssummit.com/

1. 17th
–18th
September2015,CarlsbergMuseum&BusinessCentre,Copenhagen,Denmark
5th
Edition
Find out more at
www.orphandrugssummit.com@
PLUS
Join us on:
OrphanDrugsExecutivePlatform
Twitter: @PharmaDivision
a
event
Fosteringtherightrelationsandbringingtherightdiscussions
tocollaborativelyshapethefutureoforphandrugs
Partners

2. Editor’s note:
Changing times ask for solid relationships.
Times are changing.Arenewed interest from big pharma in the rare disease landscape
has awakened due to large-scale patent expirations,competition from generics &
biosimilars,anemic pipelines,escalating clinical trial costs and a global health-care
reform.This means that the traditional blockbuster model has become less viable while
the revenue-generating potential of orphan drugs has shown to be huge with a greater
return on investment than non-orphan drugs.According to EvaluatePharma,the orphan
drugs sales will grow at an annual rate of 11% and constitute 19% of the total share of
prescription drugs by 2020,totalling 176 billion dollars.
The rare disease landscape is very complex due to the large amount of stakeholders
involved.Despite their different interests they have one goal in common: getting an
orphan drug approval that will help save or improve lives.But there are many challenges
on the road to orphan drug designation:
• Complexandchangingnationalandregionalregulations
• Clinicaltrialdesignandfinding&keepingpatients
• Thelackofacentraldatabasedesignedspecificallytolistpatientregistries,which
asksforclosestakeholderengagement
• Partneringandestablishingfinancingforfuturedevelopment
• Establishingafoundationforpricethatisbalancedandsustainable
• Achievinganefficientandtimelyaccesstomarketwithequalaccessforpatients
aroundtheworld
• Achievingtimelyandcorrectdiagnosistoenablehigherqualityoflifeandmoretime
andinformationfordevelopers
Changing environments ask for a changing conference.With the help of the audience
we have been able to map the complex orphan drugs ecosystem,resulting in a whole
new concept at the Orphan Drugs Summit 2015.This conference is specifically de-
signed to enable future stakeholder interactions,which is much needed.Each session
brings together different groups of stakeholders on specifically selected topics to help
them build relationships and reach their goals.With the right relations and the right
discussions we can help shape the future of healthcare by collaboration.
Flip the pages to see your ecosystem map and what sessions are specially designed for
you.Start building your solid relationships right here,right now!
Welcome to the 5th
annual Orphan Drugs Summit.
Sincerely,
Maaike Gerritse
Editorial Content Director,Orphan Drugs Summit

3. The Advisory Board is instrumental in setting the tone and direction of the event, thanks
to the accumulated years of experience of all the members within the Orphan Drugs
community.
Advisory Board - 2015
Robert Derham
Founder & President
CheckOrphan
Anders Waas
CEO
Tikomed
Marlene E. Haffner
MD, MPH, CEO, Haffner
Associates, LLC (former
Director of OOPD at US
FDA)
Dr. Hoss A Dowlat
Vice President
Regulatory Affairs,
Global Strategy
PharmaBio Consulting
Donald Macarthur
Principal
Justpharmareports
Elizabeth Vroom
Founder and President
Duchenne Parent Project

4. Conference at a glance
12:00 Registration opens
12:45 Chairman opens the conference
13:00 Plenum session
13:45 Plenum session
14:30 Debate Debate Panel
15:00 Networking break & 1-to-1 meetings
15:30 Debate Case Study
16:00 Round table Masterclass Round table
16:30 Plenum session
17:15 Plenum session
18:00 Networking cocktail
19:00 Networking dinner
12:00-17:15Consultingcorner
09:00 Plenum session
09:45 Plenum session
10:30 Networking break & 1-to-1 meetings
11:00 Focus session Round table Research Discussion
11:30 Masterclass Masterclass
12:00 Debate Roundtable Roundtable
12:30 Networking lunch
13:30 Round table Case study Panel discussion
14:00 Masterclass Research Discussion Debate
14:30 Masterclass Debate
15:00 Networking break & 1-to-1 meetings
15:30 Plenum session
16:15 Plenum session
17:00 Chairman closes the conference
17:15 One for the road
Day 2
Day 1
09:00-17:15Consultingcorner
09:00-17:15Sharktank
08:45 Chairman opens day 2

5. Summit concept
TheOrphanDrugsSummit2015istailoredaccordingtostakeholderneeds.WiththehelpofCopperbergsOrphanDrugsSurvey
we have been able to specifically design this conference to bring the right stakeholders together to discuss critical topics.The
survey report can be downloaded via www.orphandrugssummit.com.All stakeholders are visualised withtheuseoficons.All
sessionsarecodedaccordingtotheseiconstoshowyouwhatsessionsarespecificallydesignedforyou.
Take a look at the agenda and see what we have in store for you!
Regulatory bodyPayer
Drug developer
Hospitalrepresentative Researcher
Industryassociation
Patient organisation
Venture capitalist

6. Are you ready to enter
The shark tank is a platform that brings successful drug developers,patient organisations or industry associations
together with venture capitalists - sharks.
Whether you have a breakthrough research,a far advanced clinical trial or already operating successfully and looking to
expand and could use financial backing, the shark tank is the platform for you.
We are looking for drug developers, patient organisations or industry associations who can pitch their break-
through business concepts, products, properties and services to our sharks in the hopes of receiving investment
funds. If selected, our sharks could be willing to part with their resources to give you the funding you need.
You can apply soon for your chance to enter the shark tank and see if your business is ready for a shark investment.
For more information send an email to maaike.gerritse@copperberg.com
Nanna Lüneborg
Investment Director
NovoA/S
Rob Hopfner
Managing Director,
Bay City Capital
John Doux
Analyst/Investor
PaloAlto Investors

7. Book 30 minutes with one of our
selected consultants and get your
burning questions answered!
What do you do when you get sick? It is highly likely you go to
a doctor and ask for advice.Why don’t we do the same for our
business?
That is why we are organising a consultation hour for your business, where expert industry
consultants will act as the doctor to help cure your business.You get the possibility to book
30 minutes with one of our highly selected doctors to ask them your burning questions.
How healthy is your
organisation?
Consultation
Corner
I could use
some advice...
Now it is time
for answers!

8. Henrik Balle Boysen, Executive Director, HAEi
Henrik Balle Boysen is the Executive Director of HAEi – International Patient Organization for C1Inhibitor Deficiencies (www.haei.org) –
and President of the PatientAssociation for HAE in Denmark,Norway and Sweden (HAE Scandinavia).He assumed his position as the
HAEi’s Executive Director on 1 September 2009 after spending 5 years on its Executive Committee.Henrik has a background in sales
and marketing and has held management positions in several global corporations.Since 2000,most of Henrik’s spare time has involved
hereditary angioedema.He was diagnosed with HAE (type I) at the age of 17 – more than 10 years after his symptoms first appeared.
Ana Mingorance Le Meur, Scientific Director, Dravet Foundation
DrAna Mingorance is the Scientific Director of the Dravet Syndrome Foundation in Spain,a non-profit patient organization focused
on running and promoting research on Dravet syndrome and related neurological rare diseases.In this role,she is responsible
for long-term research strategy and for building and managing a portfolio of research collaborations ranging from diagnostics to
clinical research.Ana has prior experience in neuroscience and drug discovery from both industry and academia,as a lab head and
discovery project leader at the global pharmaceutical company UCB and the recipient of multiple awards for her research at the
UniversitiesofBritishColumbiainCanadaandBarcelonainSpain,wheresheobtainedherPhD. Sheisalsoanindependentconsultantto
universities,companiesandpatientorganizationsintheareasofneuroscienceandrarediseasesviahercompanyDracaenaConsulting.
Jean Nordstrom, CEO, Sixera Pharma
Industrialist and seasoned manager with 40 years of International Management positions in several Industry sectors.Last 25 years
in Pharmaceutical and Biotech.Thorough experience from managing companies with substantial context in development and R&D.
Have worked with large companies as well as SMEs.Former Executive President of Pharmacía Spain and member of the Corporate
Management group,VPCorporate and Business Development atArexisAB,Swedish Biotech Company.CEO of Labiana Group,Spanish
CMO and producer of own products for human and animal health.Accustomed to work with companies with financial owners as well
as industrial partners.Mr.Nordstrom has in parallel to his employments as executive also carried out various assignments as advisor
in strategy and development issues.Since 10 years special interest in developing Orphan Drugs.Sixera Pharma is now main focus and
Jean Nordstrom is also co-founder and shareholder of the company.
Segolene Ayme, Emeritus Director of Research, INSERM
Ségolène Aymé is Emeritus Director of Research at the French Institute of Health and Medical Research (INSERM). She dedicated
her professional life to the development of tools and innovative practices to improve the diagnosis and management of rare diseases,
the access to expert services and the development of appropriate policies at national and international level. She was the first
president of the International Federation of Human Genetics Societies in 1996. She chaired from 1998 until 2007 the Public and
Professional Policy Committee of the European Society of Human Genetics.She was the founder of Orphanet in 1997 and Executive
Manager up to 2011. She chaired the EU Committee of Experts on rare Diseases from 2010 to 2013 and is now a member of the
Commission Expert Group on Rare diseases. She also chairs the WHO Topic Advisory Group for Rare Diseases and serves as Editor-in-Chief of the
OrphanetJournal of Rare Diseases (www.ojrd.com).She is the project leader of“Support IRDiRC”,which provides the services of a scientific secretariat
to the International Rare Diseases Research Consortium (www.irdirc.org).
Josie Godfrey, Associate Director – Highly Specialised Technologies, NICE
Josie Godfrey isAssociate Director at NICE with responsibility for the new Highly SpecialisedTechnologies programme.She is leading
worktoestablishprogrammewhichwillmakerecommendationtotheNHSinEnglandabouttheuseofnewhighlyspecialisedtechnologies.
Before joining NICE,Josie led work to establish the newAdvisory Group for National Specialised Services (AGNSS).She developed a
decision-making framework to supportAGNSS in making these recommendations and developed the process for considering highly
specialised services,drugs and technologies.Josie has worked in health policy development and implementation for the NHS in
England and national and local government.
Nanna Lüneborg, Investment Director, Novo A/S
Nanna is Investment Director of Novo Seeds,the early stage investment arm of NovoA/S.Novo Seeds is a leading early stage investor,
actively creating new biotech companies primarily in Scandinavia through seed and venture investments.Nanna joined NovoA/S in
2012.Prior to this,she worked forApposite Capital,a successful London-based healthcare venture fund,where she was responsible for
diligenceofnewinvestmentopportunitiesandinvolvedinallaspectsofinvestmentactivities,dealstructuringandportfoliomanagementof
companies in drug development,medical devices and healthcare services.Earlier in her career,she worked at Cancer Research UKas a
research manager.Nanna completed undergraduate studies at University of Oxford,a PhD in Neuroscience at University College London,
and MBAat University of Cambridge.She currently serves on the board of Directors ofAffinicon,Glionova,IO Biotech,Minervax and Pcovery,and she is an
observer on the board of Galecto.
SIXERA
Speakers:

9. Meriem Bouslouk,Desk Officer Pharmaceuticals Department,FederalJoint Committee (G-ba) Germany
Meriem Bouslouk (PhD in dentistry,MSc International Health) joined the Pharmaceuticals department of the FederalJoint Committee
(G-BA) in 2011,and has worked on the implementation ofAMNOG,the GermanAct on the Reform of the Market for Medicinal Products,
fromthestart.Hermainresponsibilitiesareconductingconsultationswithindustryrepresentativesonclinicalstudydesignandappropriate
comparators,assessingreportsbytheInstituteforQualityandEfficiencyinHealthCare(IQWiG),anddraftingG-BAresolutionsunder
AMNOG(withanemphasisonorphandrugs)whichbecomeamendmentstotheGermanPharmaceuticalDirective.Meriemworksclosely
withthevotingmembersoftheG-BAandnumerousotherstakeholders.
Lise Aagaard, Professor,Institute of Public Health, University of Southern Denmark
Dr.AagaardisprofessorofclinicalpharmacyattheUniversityofSouthernDenmark.Shehasbeenworkingwithdifferentaspectsof
medicineuseandhealthpolicy,andconductedseveralstudiesonmedicineuseinchildrenandadolescents.Shegraduatedasapharmacist
(Mscpharm)in2001,andin2008sheearnedherPhDdegreeforanalysesofhowknowledgeaboutadversedrugreactionscanbe
improved.From2004to2008shewasemployedasapharmacovigilanceofficerattheDanishMedicinesAgency.Duringtheperiodinthe
DanishMedicinesshealsoattendedmonthlymeetingsintheEuropeanMedicinesAgencyrepresentingDenmarkinthePharmacovigilance
WorkingParty.
Flóra Raffai, Head of Development, Findacure
Flóra Raffai is the Head of Development at Findacure,a UKcharity building the rare disease community to drive research and develop
treatments.She was the first hire at Findacure,developing the charity’s projects,funding,and community.Flóra organises Findacure’s
patient group empowerment programmes,runs scientific community engagement projects,develops the charity strategy,and oversees
majorfundingapplicationsandonlinecommunications.Shealsolinemanagesothermembersofstaff.FlóragraduatedfromtheLondon
School of Economics and Political Science with a BSc (hons) in International Relations.She is a founding member of the Cambridge
Rare Diseases Network,a not-for-profit organization bringing together active stakeholders in rare disease research and development.Flóra
is also a member of the CambridgeWomen’s Resource Centre’s fundraising committee and volunteers as Co-Organiser for the Cambridge
Chapter of Good for Nothing.
Speakers:
Tim Kanters, Researcher, Erasmus University Rotterdam Institute for Medical Technology
Assessment (iMTA)
Tim Kanters has been involved in orphan drug research since 2008.He performed cost-effectiveness studies for a broad range of
orphan drugs,most notably alglucosidase alfa in Pompe disease,for submission to the Health Care Insurance Board in the Netherlands.
Furthermore,he is performing a methodological study regarding the appropriateness of guidelines for health technology assessment to
support decision making on orphan drugs.
Rob Hopfner RPh, PhD, MBA, Managing Director, Bay City Capital
Rob Hopfner,RPh,PhD,MBA,is a Managing Director of Bay City Capital and has been with the firm since 2002.Dr.Hopfner’s work
at Bay City has included discovery science,product development,and commercial and business development projects.Before
joining Bay City Capital,Dr.Hopfner worked in DuPont Pharmaceuticals’Business Development & Strategic Planning group and
atAg-West Biotech,aWestern Canadian seed-stage biotech venture capital firm.Dr.Hopfner holds a PhD in Pharmacology and a
degree in Pharmacy from the University of Saskatchewan,and an MBAfrom the University of Chicago Booth School of Business.
His biomedical research focused on endocrine pharmacology and he completed his post-doctoral work at Harvard Medical School.
Dr.Hopfner’s numerous awards include the Governor General of Canada Gold MedalAward,and he has published several articles in
top medical journals based on his work.Dr.Hopfner started his career as a pharmacist.
Dr Robert Ryan, President & CEO, Scioderm
Dr. Robert Ryan Co-Founded Scioderm, LLC with more than 27 years of research, pharmaceutical and biotech experience,
spanning the global development process from preclinical through Phase IV. Dr. Ryan previously held senior regulatory positions
at three of the top 5 leading CRO’s, PPD, INC Research, and Quintiles where he also served as the Chief Regulatory Officer for
Quintile’s very successful PharmaBio division, leading the due diligence teams to a 100% track record in successful investments
of approximately $800 million in various biotech/pharmaceutical companies. Dr. Ryan’s diverse pharmaceutical career covered
senior preclinical, regulatory and clinical activities with Roche, Bristol-Myers Squibb (BMS), UCB,Atherogenics, and Pfizer. Dr.
Ryan graduated with a doctorate degree in Toxicology from the University of North Carolina at Chapel Hill, and is board certified
in Toxicology. In addition, Dr. Ryan has advanced degrees in Genetics and Pharmacokinetics.

10. Jimmy Cheng-Ho Lin, MD, PhD, MHS, President, Rare Genomics Institute
JimmyLin,MD,PhD,MHS,isa2012TEDFellowandFounder&PresidentofRareGenomicsInstitute,theworld’sfirstplatformtoenableany
communitytoleveragecutting-edgebiotechnologytoadvanceunderstandingofanyraredisease.Partneringwithtopmedicalinstitutions,RGI
helpscustomdesignpersonalizedresearchprojectsforrarediseases.Dr.LinisalsotheDirectorofClinicalGenomicsattheGeneticsBranchofthe
NationalInstituteofHealth/NationalCancerInstitute(NIH/NCI).Priortothis,heledthecomputationalanalysisofthefirsteverexomesequencing
studiesforanyhumandiseaseatJohnsHopkinsandwasaresearchinstructoratWashingtonUniversityinSt.Louis.Hehasnumerouspublications
inScience,Nature,Cell,NatureGenetics,andNatureBiotechnology,andhasbeenfeaturedinForbes,Bloomberg,WallStreetJournal,WashingtonPost,
BBC,TIME,andtheHuffingtonPost.
Blair van Brunt, Founder, Rare Disease Perspectives
Kate Bushby, Professor of Neuromuscular Genetics Newcastle University John Walton Centre
for Muscular Dystrophy Research, MRC Centre for Neuromuscular Diseases, Institute of Genetic
Medicine, International Centre for Life
Prof.KateBushbyMDFRCPisaProfessorofNeuromuscularGenetics.SheisaclinicalacademicwithjointappointmentsbetweenNewcastle
UniversityandtheNHS.TheMuscleTeamwithintheInstituteofGeneticMedicineisapartnerintheMRCCentreforNeuromuscularDiseases,
ofwhichProfBushbyisDeputyDirector.ProfessorBushbyhasalong-standinginterestininheritedneuromusculardiseases,especiallyDuchennemuscular
dystrophyandthemoleculargeneticsofthelimb-girdlemusculardystrophiesandrelateddisorders.Shehasalsobeenleadingonthebestpossibledevelopment,
disseminationandimplementationofcareguidelinesaswellasclinicaltrials.The70strongmuscleteamatNewcastlehasdevelopedanextensiveprogrammeof
researchinNMDfrombasicmolecularpathologytoclinicalstudies.AlongwithVolkerStraub,ProfessorBushbywasoneofthefoundingco-ordinatorsoftheTREAT-
NMDNetworkofExcellenceandremainsamemberofitsscientificsecretariat.SheisamemberoftheEuropeanExpertGrouponRareDiseasesandleadstheJoint
Actionsupportingthisgroup.SheisImpactworkpackageleaderinRDConnectandInternationalPIontheNIHfundedinternationalstudyofsteroiduseinDMD
andtheJainfoundationstudyofclinicaloutcomemeasuresindysferlinopathyaswellasaninvestigatorinseveralindustrysponsoredclinicaltrialsinDMD.
GhassanKaram,TechnicalOfficer,InternationalClinicalTrialsRegistryPlatform-WorldHealthOrganization
Ghassan has been managing the International Clinical Trials Registry Platform (ICTRP) in the World Health Organization since
2011. He is an expert in clinical trial design,, clinical trials registration and ethics committees. He has many years of professional
experience in the private sector and within different areas of work in theWorld Health Organization.Ghassan has a BS in Computer
Science, PG Diploma in International Management and MSc candidate with the University of London.
Birthe Byskov Holm, President,Rare Diseases Denmark / Eurordis
Birthehasalonghistoryofactiveparticipationinpatientorganizations.Shebecameinvolvedinthefieldofrarediseasesbecausehernowgrownup
sonwasbornwiththerarediseaseOsteogenesisImperfecta.BirthehasbeenamemberoftheDanishOIAssociationsince1983whereshehasacted
aspresidentandsheisalsotheco-founderandcurrentlythepresidentoftheDanishrarediseasealliance(RareDiseasesDenmark).Birthehasuntil
June2015beenaEurordisnominatedpatientrepresentativefor12yearsatthecommitteeoforphanmedicinalproducts(COMP)oftheEuropean
MedicinesAgency(EMA)wheresheheldthepositionofvicechairuntil2012.SheiscurrentlymemberoftheEurordisboardofdirectorssince2012.
Alexander D. Crawford, CEO, Theracule
Speakers:
John Doux, Analyst/Investor, Palo Alto Investors
John Doux,MD obtained a B.S.with distinction and an MD from Stanford University,where he was a Howard Hughes Medical Institute
Fellow.After an internship at Brigham andWomen’s Hospital in Boston,he returned to Stanford to complete his residency training in
dermatology.He also completed an MBAat theWharton School of Business where he was a Palmer Scholar.He is board certified in
dermatology and maintains an active clinical practice. Since 2004 he has also served as an analyst at PaloAlto Investors,an investment
fund specializing in healthcare with $2B in assets under management,with a historical focus in therapeutics for rare diseases.

11. Mark Corbett, Senior Vice President, Clinigen Global Access Programs (GAP) – Clinigen
Mark Corbett joined Clinigen in mid 2010 as Vice President Clinigen Global Access Programs with overall responsibility for
Clinigen’s Global Access Programs Division which specialises in the consultancy, development, set up and implementation of
access programs on behalf of the Biotech and Pharmaceutical industries. Over the last 6 years Mark has specialised in the area
of Named Patient / Early Access and Compassionate Use Programs. Prior to joining Clinigen, Mark was the Head of European
Business Development and a Global Account Director at the market leader in the field of Named Patient Programs. Within
this role Mark was responsible for overseeing all new business opportunities for the provision of services to the pharmaceutical
industry originating through the global headquarters. Mark has gained extensive specialist knowledge and operational expertise
in implementation of over 100 Global Early Access / Named Patient Programs for a variety of companies ranging from niche Biotech to Large Top
10 Pharma. Mark is widely recognised as a thought leader on the subject of Early Access / Compassionate Use / Named Patient Programs having
spoken at a number of industry congresses and workshops over the last 6 years. Prior to specialising in the area of Early Access and Named Patient
Programs, Mark spent 13 years within the pharmaceutical industry in a number of sales, training and marketing roles with Servier Laboratories Ltd.
Latterly, he had overriding responsibility for the launch of an innovative novel product to the market during which he developed his interest in and
experience in the complexities of market access to innovative medicines across Europe.
Call for papers
The Orphan Drugs Summit organizing team aim to change the way conference agendas look.The goal for the 5th
Annual Orphan Drugs Summit agenda is to provide great experience based on premium content.As such,we are
currently looking for interesting papers on various topics in the orphan drugs field that will be published in the
digital and printed agenda.
We consider five different types of articles for publication in the orphan drugs summit agenda:
• Future insights
• Opinion pieces
• Interviews
The author of the article agrees that the work he/she is submitting meets the appropriate criteria and does not
infringe upon any copyright or intellectual property laws.All submitted articles are first screened by the editor-
in-chief.Articles should not exceed 1000 words.Pictures and graphs are welcomed.
If interested please contact maaike.gerritse@copperberg.com
• Academic
• Case Studies
Gülce Belgin, Founder & Director, Proceutica
MrsBelginholdsaB.ScdegreeinChemistryfromBogaziçiUniversityandanM.B.AfromKoçUniversity,Istanbul.SincecompletingherMBA
sheworkedasaconsultanttopharmaceuticalindustryforthelast13yearsinTurkey.Duringthisperiodshedevelopedspecialinterestin
OrphanDrugs.Gülce’sentrepreneurialexperiencealreadyincludessuccessfullyfoundingandrunningabusinessconsultancycompanysince
2008.SheisthefounderandDirectorofProceutica,acompanybasedinIstanbulprovidingmarketaccessservicestoglobalOrphanDrug
companies.Gülce’sexperienceintheareaofNamedPatient/EarlyAccessandCompassionateUsePrograms enablespatientstohaveaccess
totherapiesasearlyaspossiblethroughexistingandinnovativeearlyaccessmechanisms.
Eva Rye Rasmussen, Specialty registrar of Oto-Rhoni-Laryngology – Head and Neck Surgery,
University hospital of Copenhagen
Dr. Rasmussen is a member of the Danish research group on BradyKinin-mediated Angioedema (DABKA) which performs
epidemiological and basal research within the fields of hereditary and acquired angioedema including angiotensin converting
enzyme-inhibitor and angiotensin II antagonist mediated angioedema. She has published a number of papers on the topic in
various national and international medical journals. Furthermore she is currently taking part in an international multicentre study
regarding antihypertensive drugs and angioedema in co-operation with the EU sponsored PREDICTION-ADR group. Furthermore she is educating
staff at the emergency departments, internal medicine, intensive care units and otolaryngology department in the assessment and management of
angioedema including hereditary angioedema.
Speakers:

12. n 12:00 Registration opens
n 12:45 Chairman opens the conference
Program:
Day 1
Consultingcorner:
Meettheindustry’sbest
consultantsandbook
your30minutesof
qualityadvice!
The agenda is coded with the use of symbols to show you what sessions are specifically designed for you.The big symbols show who will be
speaking during a certain session.The small symbols show who should be attending a certain session.So remember your symbol and see
what this agenda has in store for you!
PAYERS HOSPITAL
REPRESENTATIVES
PATIENT
ORGANISATIONS
VENTURE
CAPITALISTS
REGULATORY
BODY
DRUG
DEVELOPERS
RESEARCHERS INDUSTRY
ASSOCIATIONS
n 13:00Regulatorymarketupdate:whatarethemajorchangesanddifferencesworldwide?
The regulatory landscape of orphan drugs imposes a lot of challenges and
has shown a great deal of complexity.Not only are the regulations different
acrossborders,makingitextremelydifficulttomarketyourdrugsindifferent
countries, they are also changing quite rapidly. That is why we will start
this conference with a regulatory market update, providing you with insights
in the recent changes and differences across borders.
Learning points:
• Regulatory changes
• Differences in regulations
across borders
+
Marlene E. Haffner MD, MPH, CEO, Haffner
Associates, LLC (former Director of OOPD at
US FDA)
n 13:45Casestudy:Anapprovedorsoon-to-beapprovedorphandrug-Howdidtheydoit?
The road to an approved orphan drug is long,challenging and costly.
There are many challenges concerning regulations,clinical trial design,
finding and keeping patients,and let’s not forget the financing.In this
session we will present a case study of a success story and share the
best practices and lessons learned from the road to drug designation.
Learning points:
• Best practices of an orphan
drug designation success story
• Lessons learned on the road to
designation
+

13. 15:00 Networking break & 1-to-1 meetings
Program:
Consultingcorner:
Meettheindustry’sbest
consultantsandbook
your30minutesof
qualityadvice!
n 14:30 Debate: regulation on
cross border healthcare: how to
overcome this?
Different countries,different
regulations,but the same disease.
Right now the country you live in
might decide whether or not you
have access to a drug that saves,
or improve your life.The access to
drugs suffers from inequality due
to the different regulations across
borders.It makes it very difficult
for drug developers to market
their drugs and reach all potential
patients.But it is not that simple to
overcome this issue,since there are
many parties involved.The question
is: how can we overcome this?
n 14:30 Debate: Affordability
& maintainability: socially re-
sponsible pricing and ensuring
patient access to treatments
Establishing a foundation for price
that is balanced and sustainable
while satisfying multiple parties
with different interests is a big
challenge.Drug development is
very costly,but is the patient the
one that has to pay the price with
the risk of them not being able to
access the medication they need?
n 14:30 Panel: Is global colla-
boration the answer to reaching
all potential patients?
Some diseases are so rare that
they only affect a handful of people
in a certain country.With the lack
of a central database designed
specifically to list patient registries
it is very hard to detect patients
that suffer from the same disease.
The questions is if global collabora-
tion is the right answer to reaching
patients and developing and
identifying new treatments?
Learning points:
• How can we deal with different
regulations across borders?
• How do these differences
influence patient’s access
+ Learning points:
• Foundation mechanisms for
pricing
• Ensuring patient access to
treatments
+
Learning points:
• Is global collaboration the
right answer?
• Developing & identifying new
treatments through global
collaboration
+
n 15:30 Debate: Problems with reimbursement
and economic burden of ACE inhibitor induced
angioedema
This session will be about reimbursement in patients
suffering from bradykinin mediated angioedema due
to antihypertensive (ACE inhibitors) and anti-diabetic
drugs (DPP-IVinhibitors).These patients are“shared”
between emergency medicine,oto-rhino-laryngology,
internal medicine and intensive care units,but who
are to pay for the expensive medications?
n 15:30 Case study: Building a patient registry
- lessons learned
Building a patient registry is a big challenge.As the
advocate for a rare disease I realised this and learned
the hard way.In this case study I will share my story on
building a patient registry and share my best practices
and lessons learned.
Blair van Brunt, Founder, Rare
Disease Perspectives
Learning points:
• Icatibant in ACE inhibitor induced angioedema
• “Shared”care: who is paying?
• How are reimbursement managed in other
counties?
+
Learning points:
• Best practices on building a patient registry
• Lessons learned from building a patient registry
+
Gülce Belgin, Founder
& Director, Proceutica
Eva Rye Rasmussen, Specialty
registrar of Oto-Rhoni-Laryngology
– Head and Neck Surgery, University
hospital of Copenhagen

14. Program:
Consultingcorner:
Meettheindustry’sbest
consultantsandbook
your30minutesof
qualityadvice!
n 16:00 Round table: Changing
regulatory frameworks for better
reimbursement strategies
Setting the right reimbursement
strategy that satisfies all parties
is easier said than done.With the
complex regulatory framework
on orphan drug designation it is
the question if we can make some
changes to improve reimbursement
strategy.
n 16:00 Masterclass:
International clinical trials
registry platform
TheInternationalClinicalTrials
RegistryPlatform(ICTRP)isaglobal
initiativethataimstomakeinforma-
tionaboutallclinicaltrialsinvolving
humanbeingspubliclyavailable.It
wasestablishedin2006inresponse
todemandfromcountriesthrough
theWorldHealthAssemblyresolution
thatcalledfor“avoluntaryplatform
tolinkclinicaltrialsregistersinorder
toensureasinglepointofaccessand
theunambiguousidentificationof
trialswithaviewtoenhancingaccess
toinformationbypatients,families,
patientgroupsandothers”.Inthis
sessionGhassanwillexplainmore
abouttheInternationalClinicalTrials
RegistryPlatform.
n 16:00 Round table: Collabora-
tively fighting for patient rights:
equal access for everyone
As a patient organisation you
are constantly trying to fight for
patient rights.The country you are
living in, the type of insurance you
have, the doctor you are meeting
etc should not be factors preventing
you from getting the best care and
access to treatments. But how
can we establish equal access for
everyone?
Learning points:
• Regulatory frameworks
influencing reimbursement
• setting reimbursement
strategies
+
Learning points:
• The International Clinical
Trials Registry Platform
• Linking clinical trials registers
to have a single point of access
+
Learning points:
• Patient rights
• Establishing equal access
+
Henrik Balle Boysen,
Executive Director,
HAEi
n 16:30Pricingoforphandrugs:Establishingareimbursementfoundation
Pricing of orphan drugs is a delicate question, since it needs to be
balanced and sustainable. Establishing the right reimbursement
foundation that satisfies the developer whilst enables equal access
for patients is easier said than done. It asks for close collaboration
between different stakeholders.
Learning points:
• How to establish a foundation
for reimbursement
• How to price orphan drugs in a
way that is balanced and
sustainable
+
n 17:15EarlyAccesstoOrphanDrugs:Theevolvingchangingenvironmentandadditional
benefitsofEarlyAccess
Learning points:
• Understand the changes in the regulatory environment, including UK EAMS and Cure Act in the USA
• Learn about the practical considerations for providing early access
• Patients and patients groups role in early access
• Can an Early access program provide additional Real World Evidence for Orphan Drugs
+
Ghassan Karam,
Technical Officer,
International Clinical
Trials Registry Platform
- World Health
Organization
Mark Corbett, Senior Vice President, Clinigen
Global Access Programs (GAP) – Clinigen

15. 18:00 Networking Cocktail
19.00 Networking Dinner
Big announcement coming soon:
Stay tuned for our amazing venue!
September 17th
2015
WELCOMETO
THE SOCIALCLUB
18:00
Copenhagen

16. Program:
Consulting
corner:
Meetthe
industry’s
best
consultants
andbook
your30
minutesof
quality
advice!
Sharktank:
Applyto
pitch
venture
capitalists!
n 08:45 Chairman opens day 2 of the conference
Day 2
n 09:00TheCathedralandtheBazaar:OrphanDrugsandtheGenomicRevolution
Bottom-up collaborative infrastractures have revoluntionized
information technology; the same is happening in genomics and rare
diseases. Parterning with patient advocacy groups, biotechnology
companies, pharmaceutical companies, and academic, we at Rare
Genomics Institute are building systems for crowdsourcing knowledge,
funding,genomic information,biospecimen and other and to contribute
to the bigger revolution that is underway for orphan drugs.
Learning points:
• Rare diseases follow the classic
long tail distribution and thus
require an alternative paradigm
from the traditional blockbuster
drug approach
• The sharp decline in genome
sequencing prices has demo-
cratized the technology and
has allowed a distributed
collaborative mechanism of
data generation and sharing
• At Rare Genomics Institute,
we empowering patients by
connecting them with
researchers, doctors, industry,
and funders and provide them
withallthetoolsandconnections
to advance understanding for
their research. New disease
are being discovered using this
approach
+
Jimmy Cheng-Ho Lin, MD, PhD, MHS,
President, Rare Genomics Institute
n 09:45ThevoiceofpatientslivingwithrarediseasesinEurope
In Europe alone there are about 30 million people living with a rare
disease.Therefore there is the need to build a European community of
patient organisations and people living with rare diseases at a European
level.
Learning points:
• Building a strong European
community
• Uniting patient organisations
and people living with rare
diseases
+
Birthe Holm, President, Rare Diseases
Denmark, Board member EURORDIS
10:30 Networking break & 1-to-1 meetings

17. Program:
Sharktank:
Applyto
pitch
venture
capitalists!
n 11:00Researchondiagnostics:
Howtomakediagnosticseasier,
morecorrectandfaster?
The earlier you correctly diagnose
people, the earlier you can link
them to the right specialists and
treatment possibilities.But making
the right diagnosis, especially on
a rare disease can be very hard
since the symptoms can vary from
patient to patient. Can research
on diagnostics help us to make
diagnostics easier, more correct
and faster?
n 11:00 Round table: Aligning
regulations across borders:
minimizing regulatory gaps &
differences
Regulations differ across borders.
In order to achieve equal access
for patients we must minimize
regulatory gaps and differences
between countries. But this asks
for very close collaboration and
political involvement.The questions
is how we can achieve this?
n 11:00 Research discussion:
budget impact of orphan drugs
in the Netherlands
In this study the number of orphan
drugs, number of patients using
them and the annual budget
impact of orphan drugs in the
Netherlands over a six-year period
is researched.What is found is that
the budget impact has grown both
in absolute terms as well asrelative
tototalpharmaceuticalspending.
Tim Kanters who conducted this
study, will discuss the research
and its results.
Learning points:
• Research on diagnostics
• Enabling faster, more correct
and easier diagnostics
+ Learning points:
• Minimizing regulatory gaps
• Achieving collaboration
+ Learning points:
• Budget impact of orphan
drugs in the Netherlands
+
Tim Kanters,
Researcher, Erasmus
University Institute for
Medical Technology
Assessment (iMTA)
n 11:30 Masterclass: Crowdfunding:
New strategy for financing clinical research
This master class will introduce case studies where
crowdfunding has successfully funded clinical
research,such as observational studies and clinical
trials.The interactive session will then delve into the
key steps you will need to run a successful campaign,
rangingfrombuildingasupporterbasetoactivedonation
generation.
n 11:30 Masterclass: Establishing comprehensive
pricing schemes to be accepted by payers
Establishing a pricing scheme for orphan drugs is
hard.It has to satisfy many different requirements,but
most importantly it has to be accepted by payers.But
what is it that payers find acceptable? How can you
set up a pricing scheme they will accept?
Learning points:
• Crowdfunding as a form of social financing
• The benefits associated with running a crowd-
funding campaign to support clinical research
• The strategic steps involved in developing a
successful campaign
+ Learning points:
• Setting up pricing schemes
• What are the requirements for payers?
+
Flóra Raffai, Head of Development,
Findacure: The Fundamental Diseases
Partnership
Consulting
corner:
Meetthe
industry’s
best
consultants
andbook
your30
minutesof
quality
advice!
TBA, MME

18. Program:
Consulting
corner:
Meetthe
industry’s
best
consultants
andbook
your30
minutesof
quality
advice!
Sharktank:
Applyto
pitch
venture
capitalists!
n 13:30Roundtable:Orphan
drugsinemergingmarkets:how
toensuremarketaccess?
Demand for access to orphan
drugs which are not yet com-
mercially available is often high,
from both patients and physicians.
What are the practical consider-
ations for a manufacturer? This
round table will focus on the prac-
ticalities, challenges and potential
benefits of early access. Different
perspectives from the group will
be discussed and some practical
examples will be shared.
n 13:30Casestudy:Thepatient
asapartner:lessonslearntfrom
animpatientpatientorganization
Frombasicdiseaseunderstandingto
preclinicalmodelsandclinicaltrials,
workingwithrarediseasesposespar-
ticularchallengesfordrugdevelopers.
Patientorganizationscanplayamajor
roleinidentifyingthesechallengesand
partneringwithacademiaandindustry
tosolvethem.Thissessioncovers
someofthemisconceptionsaround
theroleofpatientorganizationsin
promotingdrugdevelopmentfortheir
disease,structuredaroundthelessons
learntbyayoungpatientorganization.
n 13:30 Panel Discussion: How
do they judge at the EMA? -
Advocacy for approval
In this panel discussion we will
have expert panelists representing
different countries to discuss a
cross country view on drug ap-
proval.There are many questions
about how they judge at the EMA
and how we can advocate for drug
approval.
Learning points:
• Demand in emerging markets
• Regulatory and pricing
considerations
• Where do patient
organisations fit
+
Learning points:
• What are some of the main
misconceptions around the
role of patient organizations in
drug development.
• The concept of impatient
patients: why patient
organizations can and should
play a major role in orphan
drug development
+
Learning points:
• How do they judge at the
EMA?
• How can we advocate
approval?
+
Meriem Bouslouk,
Desk Officer
Pharmaceuticals
Department, Federal
Joint Committee
(G-ba)
Josie Godfrey,
Associate Director
- Highly Specialised
Technologies, NICE
Jean Nordstrom,
CEO, Sixera Pharma
SIXERA
Ana Mingorance-Le Meur,
PhD, Scientific Director,
Dravet Syndrome
Foundation Spain
n 12:00Debate:Strategiesfor
regulatoryfasttracksandglobal
marketaccess
Mostrarediseasesareseriouscondi-
tionswithahighunmetmedicalneed.
Inordertospeedupdevelopment
thereisademandforregulatoryfast
tracks.Butthisdoesnotcomewithout
astrategy.Butwhatarethesestrate-
gies?Howcanyouworktogetherwith
theregulatorybodiestosecureglobal
marketaccess?
n 12:00Roundtable:Research
design:canweoptimiseresources
bynewmethodologies?
Research design has a huge
impact on it’s costs and outcome.
The question is whether we
can optimize our resources by
changing our research design.
Are certain methodologies more
resource effective?
n 12:00 Round table: Patient
diagnostics & patient care:
choosing the right treatment
more timely
Achieving an earlier correct diag-
noses and empowering patients
will enable a higher quality of
life.The question is how we can
achieve earlier correct diagnosis
and to what extent patients can be
empowered?
Learning points:
• What are strategies for
regulatory fast tracks?
• How can you work together
with regulatory bodies?
+ Learning points:
• Research design as a way of
cutting costs
• Other resources to be
optimized by research design
+ Learning points:
• The limits of patient
empowerment
• How to achieve earlier correct
diagnosis?
+
12:30 Networking lunch
Mark Corbett, Senior
Vice President,
Clinigen Global Access
Programs (GAP) –
Clinigen

19. Program:
n 14:00 Masterclass: Trial de-
sign: how to make it regulatory
acceptable and cost effective?
Clinical trial design is subject to
many different requirements. It
should follow the rules that are
established by the regulatory
bodies, but it should also be cost
effective.The question is how you
can save costs by optimising your
clinical trial design and still make
it regulatory acceptable?
n 14:00 Research discussion:
Safety issues from use of C1-
inhibitors and bradykinin
receptor antagonist in treat-
ment of angioedema”
Long-termsafetyaspectsfromuse
oforphandrugs(C1-inibitorsand
bradykininreceptorantagonists)in
treatmentofhereditaryangioedema
arescarce.Thelackofsufficient
knowledgeaboutadversedrugreac-
tions(ADRs)atthetimeoflicensing
makesspontaneousADRreports
animportantsourceofinformation.
Since2012researcherswereallowed
toaccesstheEUADRdatabase,
EudraVigilance(EV)andthishas
openedforcross-sectionalanalysis
basedonstandardizedreporting
format.InthissessionADRsreported
totheEVdatabasebyhealthcare
professionals,ADRreportsfromcon-
sumersandADRinformationfound
intheliteraturearebeingpresented.
n 14:00 Debate: how to keep
research costs down?
Research costs can significantly
influence development costs of
orphan drugs, leading to higher
costs for the developers, payers
and patients.The question is how
you can cut research costs and
manage them. In this session
we will debate the ways to keep
research costs down.
Learning points:
• Optimizing costs of clinical
trial design
• Understanding what is
regulatory acceptable
+ Learning points:
• Managing research costs
• Finding ways to keep the costs
down
+
Lise Aagaard,
Professor, Institute
of Public Health,
University of
Southern Denmark
Sharktank:
Applyto
pitch
venture
capitalists!
Consulting
corner:
Meetthe
industry’s
best
consultants
andbook
your30
minutesof
quality
advice!
n 14:30 Masterclass: The role of registries
and networks in post marketing surveillance
programmes for rare disease drugs
InthisMasterclassKateBushby,whowontheEURORDIS
ScientificAward2015,willdiscusstheroleofregistriesand
networksinpostmarketingsurveillanceprogrammesfor
rarediseasedrugs.Activepostmarketingsurveillanceof
drugadverseeffectsisessentialbecausesideeffectsof
drugscan’tbeanticipatedbasedonpre-approvalstudies.
n 14:30 Debate: Engaging policy makers &
driving clinical trial development
The huge amount of policies slow down clinical trial
development.By engaging policy makers,clinical
development can be stimulated and speeded up.But
how can we engage policy makers? In this debate we
willdiscussthequestionofhowtoengagepolicymakers
andcomeupwithwaystodriveclinicaldevelopment.
Learning points:
• The role of registries and networks in post
marketing surveillance programmes
• Importance of post marketing surveillance
programmes
+ Learning points:
• How to engage policy makers?
• Finding ways to drive clinical development
+
Kate Bushby, Professor of Neuromuscular
Genetics, Newcastle University

20. Program:
17:00 Chairman closes the conference
15:00 Networking break & 1-to-1 meetings
n 15:30Patientregistries:enablingdatabaseaccessforallstakeholders
Registries are necessary to speed up the acquisition of knowledge on
rare diseases, the development of clinical research and to meet the
post-marketing obligations.Patient registries need to be internationally
interoperable to allow pooling of data to reach sufficient numbers for
clinical research and public health purposes.Communication technology
evolves very quickly and offers solutions to set up real data warehouses
but obstacles remain, mainly legal and behavioural ones.
Learning points:
• Up-to-date presentation of
the EUropean RD registries
landscape
• Review of technological options
and new innovative projects
+
Segolene AYME,
Emeritus Director of Research,
INSERM
n 16:15Groundbreakingresearch:Personalizedmedicinebyusingzebrafishmodels
Theraculeisayoungstart-upthatisusinggeneticallymodifiedzebrafish
modelstodopersonalizedmedicineinrarediseases.Thetechnologyhasahuge
potentialforallgeneticrarediseases.InthissessiontheCEOofTheraculewill
discussthepossibilitiesofpersonalizedmedicinebyusingzebrafishmodels.
Learning points:
• Personalized medicine
• New potential for genetic rare
diseases
+
Alexander D Crawford,
CEO,
Theracule
17:15 One for the road - Close the conference in a relaxed atmosphere with a drink in
your hand.You can discuss your key take-aways with your new contacts and strengthen
your relationships. Because we believe that with the right relations and the right
discussions we can collaboratively shape the future of orphan drugs!
Consulting
corner:
Meetthe
industry’s
best
consultants
andbook
your30
minutesof
quality
advice!
Sharktank:
Applyto
pitch
venture
capitalists!

21. Program:What is the number one reason why
should you become a partner?
Your brand will experience a surge in positive recognition
Following the conference we conducted a brief survey with our delegates on how they viewed our partners before
and after the conference.The overwhelming trend was an increase in the positive light delegates saw our partners.
Partners who took part in plenary,stream,or round table sessions experienced the most significant gains.
Need more reasons?
For more information on becoming
a partner please contact:
Associate your brand
with the annual
Orphan Drugs
Summit 2015
Limited Partner
Opportunities;We
are inviting a limited
number of partners,
all well evaluated for
the best match-
making effect
Benefit from the
European Marketing
coverage through our
extensive industry
database
Be a part of business
critical conversations
that take this
industry forward
Show your solutions
to an audience that
really counts
By invitation only;
All attendees are
carefully screened
for business critical
issues
Lawrence Hyde
Head of Life Science Division
Tel: +46 8 120 505 52
Mob: +46 720 137 154
E-mail: lawrence.hyde@copperberg.com
0 1 2 3 4 5
After
Before
Partner 5
Partner 4
Partner 3
Partner 2
Partner 1
Delegate awareness of partners before and after Orphan Drugs 2014

22. n TERMS & CONDITIONS
Your booking is binding.You may substitute a delegate at any time. Please note that substitutions are not permitted unless approved by the
organizers. For all cancellations (without an approved substituted delegate) received in writing more than 5 business days prior to the event and,
a €120 (+VAT) administrative fee will be charged and a credit voucher for the remaining amount will be issued. Credit vouchers may be used at
any Midfield Media conference within one year of issuance. For cancellations less than 5 business days prior to the event, the full amount of the
delegate pass is non-refundable. Full payment is due 10 days upon invoice and no later than 5 business days prior to the event. Delegates that
have NOT submitted payment prior to the event will not be admitted to the event. Admittance is then only granted upon approval of credit card
payment directly onsite.
3 Easy ways to register:
Phone:
+46 8 651 10 90
Email:
registration@copperberg.com
Website:
www.orphandrugssummit.com
Register - 2015
Team Send Program
Our agenda is the perfect opportunity for you to bring a cross-functional team.
When attending as a team of five or more you’ll receive additional benefits,
including complimentary registrations or discounts.
Group Booking Offer!
Book 3 get 1 free = 4 delegates
Book 5 get 2 free = 7 delegates
Book 8 get 3 free = 11 delegates
Use code BOOK3, BOOK5 or BOOK8 in the message field and we will
contact you for the additional attendees
Email: registration@copperberg.com
or call hotline: + 46 8 651 10 90
Early Bird Standard Rate
2 day event incl dinner (€) Ends 23 March
Academic/Government 790 Euro 1090 Euro
Pharma/Biotech 1390 Euro 1890 Euro
Solution Provider/Consultancy 1390 Euro 3490 Euro
Please use the chart below to determine your registration fee
We are pleased to announce the venue for this Years Orphan Drugs Summit is the
beautiful Carlsberg Museum & Business Centre in Copenhagen.
This beautifully preseved building offers a rich sense of history combined with modern conveniences, making
the venue an integral part of a memorable conference experience.
More details about the venue will soon be available, along with information about accomodations.
Venue - 2015
All prices are excluding tax

23. © 2015 Midfield Media Group. All rights reserved.
For more information, email info@midfieldmedia.com or visit www.midfieldmedia.com.
Midfield Media Group
Lützengatan 2
115 20 Stockholm, Sweden
Phone: +46 8 650 02 70
Fax: +46 8 441 07 93
Email: info@midfieldmedia.com
www.midfieldmedia.com
a
event