11 November 2015

Overcoming challenges in Rare Disease Health Research and Orphan Drug Program commercialization

Geneva, Switzerland

Mapi is the market leader in all the disciplines needed to commercialize Orphan Drugs and manage Rare Disease programs

Real-World Evidence: Industry leaders in real-world research to support regulatory requirements, commercialization evidence, and engage treatment populations

Patient Insights: Services to increase recruitment and retention

Direct To Patient: A dedicated global team and call center enabling patient enrollment, retention, and support throughout the study

Patient Reported Outcomes: World-renowned leadership with access to over 3,300 PRO measures and expertise in custom scale development

Language Services: Recognized leaders in PRO validation, patient support, and HCP materials

Strategic Regulatory Services: Offering consultation and experienced procurators for regulatory meetings

Pharmacovigilance & Risk Management: Experts in international pharmacovigilance and safety, with strategically placed Qualified PV contacts

HEOR: Global Health Economics team with expertise in Rare Disease research, including Meta Analysis and Cost Consequent Analysis to support payer, HTA, and Patient Advocacy value message development

Patient Advocacy: Deep relationships with both patient advocacy and patient community groups

Selected Presenters

  • Kelly Franchetti
  • Carina Righetti
  • Charles Makin
  • Will Maier
  • Patricia Anderson
  • Antoine Regnault
  • Benoit Arnould

Kelly Franchetti

Kelly Franchetti has nearly two decades of direct patient experience, gained in both hospital and industry settings including CROs, healthcare technology, patient research and hands-on patient care across multiple therapeutic areas. Ms. Franchetti has been involved in the development and moderation of advisory boards, patient HCP and KOL forums, and has collaborated with Patient and Clinical Advocacy groups. This positions her to contribute significant insights into how patients regard their treatment options and how to best approach patient recruitment and retention strategies.

Carina Righetti

Carina Righetti is an experienced health economist with 7 years working in consultancy, the pharmaceutical industry, and for Health Technology Assessment (HTA) bodies. Carina provides senior leadership for projects on strategic market access and HTA’s for pharmaceutical, vaccine and medical device companies. Carina has worked on projects in oncology, immunology, cardiovascular and transplantation. Her experience is wide working on projects for UK HTA submissions, value proposition development, economic models, payer advisory boards, global value dossiers, and market access strategies.

Charles Makin

Having previously held leadership positions in companies such as WellPoint, United, Humana and IMS, Mr. Makin leads Mapi’s Real World Strategy & Analytics team in North America. With over 15 years of health economics and outcomes research experience, Mr. Makin integrates deep scientific methodology with the business environment to help pharma/biotech and device manufacturers develop, demonstrate and communicate product value and improve market access. He has served as Principal Investigator on a large number of global retrospective database studies, registries, patient/physician surveys, systematic literature reviews, economic models, and chart abstraction studies across all major therapeutic areas; and has authored over 50 peer-reviewed articles/abstracts.

Dr. Will Maier

Mapi’s Chief Scientific Officer, Dr. Will Maier provides scientific leadership to Mapi’s research and consulting services across a range of scientific areas. Dr. Maier has more than 20 years of drug development and commercialization experience. He served as Senior Director of Epidemiology at GlaxoSmithKline and Elan Pharmaceuticals and led research groups conducting observational research to support reimbursement, marketing and drug safety investigations of pharmaceuticals. Dr. Maier is a member of the EMA’s European Network of Centres for Pharmacoepidemiology and Pharmacovigilance.

Patricia Anderson

Patricia Anderson began her career at Novopharm in the micro lab and then at Bayer, where she moved into Regulatory Affairs. After a string of successful NDS’s with Bayer, she moved to a start-up, where she achieved international approval of their lead product. Currently, Ms. Anderson is VP of Regulatory Services with Mapi and has assisted with numerous global filings. She is one of TOPRA’s North American certified European Regulatory Affairs Instructors. She also is on RAPs Planning Committee for their Annual Meeting and is on the Board of Editors for RAPs Focus.

Dr. Antoine Regnault

Dr. Antoine Regnault has more than 10 years of experience with Patient-Centered Outcome data analysis. He applied his advanced skills in psychometrics and sophisticated statistical methods in a wide range of disease areas. Dr. Regnault co-authored a number of papers on Clinical Outcome Assessment analysis and has presented his work at many international scientific conferences. He is an active member of the International Society of Quality of Life (ISOQOL), where he is a founding co-chair of the Special Interest Group on "Mixed Method Research".

Benoit Arnould, PhD.

Benoit has been conducting studies to develop and validate Patient-Reported Outcome (PRO) measures for 17 years. In recent years, Benoit has increasingly been asked by Industry clients to assist in their Endpoint strategy definition. Benoit has sound knowledge of clinical and epidemiological trial design, data analysis and interpretation. Benoit is a Health Economics graduate with a speciality in statistics, and has completed, under the supervision of Professor Gerard Duru, his PhD on tools for clinical decision making, a subject on which he publishes regularly. Benoit leads the Mapi Global Patient-Centered Outcomes research team.

The Agenda

Wednesday, 11 November 2015

Opening Introductions

Will Maier, PhD, MPH, Chief Scientific Officer

The Process of Understanding the Person with the Indication

Kelly Franchetti, RN, CCRN, CEN, Executive Director, Global Patients Insights and Engagement, Mapi

This presentation will get to the heart of a patient’s decision-making process, from their physical needs to their social influences to better engage, recruit and retain patients in trials. Furthermore the insights gathered and the application of these methodologies can be applied to improving adherence through the trial as well as continued treatment compliance through the therapeutic continuum.

We will cover:

  • When and how to connect with key stakeholders such as Health Care Practitioners and directly with patients
  • Message planning through the treatment relationship continuum
  • Balancing messages across tactical tools such as apps, direct to patient and newsletters to improve engagement.
Market Access Challenges for Rare Diseases

Charles Makin, BSPharm, MS, MBA, MM, Vice President, Mapi Real World Strategy & Analytics

Given the small patient populations involved but the large impact on those patients, rare diseases present unique market access challenges for the manufacturers that develop products to combat them. This session will underline the opportunities and challenges inherent in getting orphan drugs to patients. In particular, we will provide evidence-based examples to provide a deeper understanding of:

  • Opportunities for early engagement with stakeholders, including clinical and economic evidence generation advice
  • The current reimbursement environment across the globe, including the US, EU, Japan, Korea and Taiwan
  • Country-specific orphan drug programs and information requirements
  • Existing challenges to reimbursement
  • Demonstrating cost-effectiveness/budget impact
  • Innovative schemes for reimbursement of orphan drugs
Recent Developments in HTA and Reimbursement Decision-Making Considerations for Orphan Drugs in Europe

Carina Righetti, MSc, BSc., Associate Director, Mapi Real World Strategy & Analytics - UK

Orphan drugs often represent a problem for reimbursement decision-making, as they rarely meet the criteria of cost-effectiveness and evidence quality. The lack of an HTA process suitable to respond to the specificities of orphan drugs can result in restricted or delayed access to patients. Many national pricing and reimbursement systems have been criticised for not adapting their processes to address the specific challenges associated with orphan drugs. However, in recent years there has been a focus on a more fit-for-purpose approach involving amendments to existing processes and/or the creation of alternative processes in several European countries. This presentation provides an overview of some of the special considerations made in the HTA and reimbursement processes for orphan drugs in Europe.

Orphan Drug and Rare Diseases
Requirements for Real World Data: Generating Data to Gain and Keep Market Access

Will Maier, PhD, MPH, Chief Scientific Officer

Throughout the clinical development and commercialization lifecycle of orphan products to treat rare diseases, there are a variety of clinical studies that may be conducted. Studies may be conducted for various reasons including product regulatory approval, patient access to a product for an unmet need, obtaining real world data with patient registries, or as a post-marketing requirement following product approval. The type of study to be conducted is often dictated by clinical, regulatory, or commercial needs.

This presentation will address the various clinical, regulatory, and commercialization strategies that may be implemented in the pre-, peri-, and post-approval development of products to treat rare diseases and orphan indications.

Presentation topics include:

  • Patient Registries for Rare Diseases
  • Sponsorship, Benefits & Applications
  • Pre- & Peri-approval Studies for Orphan Drug Development
  • Bridging Studies between Clinical Development & Product Commercialization
  • Naturalistic Registries
  • Expanded Access Programs
  • Post-approval Registries for Orphan Drugs
  • Rare Disease / Orphan Drug Registries: Operational Challenges & Solutions

Key Learning Objectives:

  • What are the benefits of conducting clinical studies and registries for rare diseases?
  • What are the types of studies conducted during different phases of orphan drug development?
  • How are patient registries used to generate real-world data for rare diseases and orphan drugs?
  • How is expanded access used to provide treatment for patients with rare diseases?
  • What are the unique challenges of conducting rare disease/orphan drug registries?
  • How can proactive study management strategies successfully address these challenges?
Regulatory Hurdles Ophan Drug
Are They Increasing?

Patricia Anderson, Vice President, Regulatory Services, Mapi

Developing effective treatments to combat rare diseases demand heavy resources. The combination of governmental incentives to develop compounds for these diseases, combined with public support to find cures make R&D for Rare Diseases-Orphan Drug one of the fastest growing segments in the biopharmaceutical industry. This talk will discuss the regulatory hurdles faced by companies pursing this area of R&D and whether they have increased or shifted making designation or approval more difficult.

How to Capture the Patients and Caregivers Perspectives in Rare Diseases?
A Challenge for Orphan Drug Developers

Antoine Regnault, Benoit Arnould

The cumulated burden of the many rare diseases on the society is such that numerous countries have developed specific policies to support research and encourage the emergence of innovative therapeutics. However, to support their decisions, regulators, payors and prescribers frequently miss adequate assessments measuring the perspective of the patients and their caregivers. Such assessments are critical to capture, communicate and compare the burden of each specific disease, as well as the outcomes of treatments.

In this session, we will present two routes to address this need: the development of specific measures, and the conduct of Mixed-Methods Research.

Antoine Regnault will tell us how the PKU-QoL was internationally developed, validated and used to assess the impact of Phenylketonuria on patient’s and caregivers daily lives. This example will show how challenges such as cross-cultural variations, working across different age groups, and optimizing research in small samples, can be addressed. Every step has been published in congresses and peer-reviewed journals, supporting the use of PKU-QoL to validly assess the burden of diseases, as well as the outcomes of treatments. With the e-version of PKU-QoL made available for clinical practice, all stakeholders now share a common metric, and this metric is patient-centered. As frequently in rare diseases, the success results from three key features: first, the collaborative work of an international group of leaders and an experienced team of questionnaire specialists, second, the engagement of patients and their clinicians, and third, the strategic effort of a sponsor.

Benoit Arnould will explain why the traditional approach to Patient-Centered Outcomes research is not always the ideal route in orphan drug development, and will identify emerging solutions. We will first discuss the paradox of rare diseases, where patient burden is the alpha and the omega of all stakeholders concerns whereas Patient-Reported Outcomes are rarely used to support regulatory claims, payors decisions, or drug prescription. We will then show how innovative approaches such as Mixed Methods research, can improve the knowledge, save time and costs. We will finally give an overview of several current initiatives aiming at providing adapted guidance to the conduct of Patient-Centered Outcomes Research in the context of Orphan Drug Development.

As a conclusion, we will give a flavor of what tomorrow could look like for assessing the patient benefit in rare diseases: a secured, efficient combination of traditional approaches and innovative solutions.


Across three days in November, World Orphan Drug Congress EU will bring together pharma, payers, regulators, and patient advocacy groups to talk about sustainability, pricing and reimbursement, commercialization and global market access. Facilitating the discussion will be some of the brightest and recognized names within the industry:

Dr Henri Termeer, former CEO of Genzyme and the godfather of Orphan Drugs will discuss the sustainability of the industry.

Ed Pezalla, VP, National Medical Director for Pharmacy, Policy and Strategy at Aetna will be offering the payer perspective during our Great Debate.

Pat Furlong, President and CEO, Parent Project Muscular Dystrophy, is also presenting at Rare Disease Advocacy World on what you need to know and do to gain a treatment or cure for your disease.


Mapi is happy to extend a registration discount to all of our clients.

Register below for the World Orphan Drug Conference and save 15% on the cost of the attendance.

Click Here To Register

The Venue

starlingStarling Geneva Hotel & Conference Center

Route François-Peyrot 34
1218 Le Grand-Saconnex, Genéve Suisse

Tel: +44 22 747 02 02
Fax: +41 22 747 03 01

Dining & Refreshment

Starling Café

Starling Café welcomes you for delicious breakfasts and lunches in a friendly atmosphere.
Open from 5:30 AM to 4:30 PM everyday.


Enjoy home-style Mediterranean cuisine in a warm and relaxed atmosphere.
Open from 12 PM – 2:30 pm & 7 PM – 10:30PM Monday – Friday.

Cbar & Lounge

The best place to meet and enjoy a fabulous night while tasting a delicious cocktail or enjoying great cuisine.
Open from 4:30 PM to 1 AM everyday.


Only 2 steps away from thet Place des Nations, at the heart of the CICG (The Geneva International Conference Centre), the MIP invites you to discover a fresh and varied cuisine.
Open from 5:30 AM to 4:30 PM everyday.

In The Area

United Nations

The United Nations in Geneva is the biggest center after New York. Visit one of the most respectable places on earth.


Located at several dozen of meters under the French and Swiss territory, the particle accelerator is a unique tool that you will discover during your visit, from the atom heart until the infinity of the universe.

The Botanical Garden of Geneva

Let yourself be enchanted by the charm of this fabolous garden comprising more than 16’000 plants species from all around the world.

Rafting and Kayak at L’Arve River

Reach your limits! A professional team will join you though 7 km of extraordinary sensations.
Open from 5:30 AM to 4:30 PM everyday.

Wine-Growing Walk

Across different itineraries, discover local products and of course taste them.

Mont Blanc

From the top of the Aguille du Midi, the highest European mountain will make you realize how beautifull nature is. Feel free!