14 March 2016

Overcoming Challenges in Rare Disease Health Research & Orphan Drug Program Commercialization

London, UK

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, and ensure the patient’s voice is heard throughout the lifecycle of drug discovery, from protocol development to post marketing

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 4,000 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

Real World Strategy & Analytics: Global Health Economics team with expertise in Rare Disease research, including Meta Analysis, Cost Consequent Analysis, and Market Access to support payers and health technology assessments

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

Selected Presenters

  • Kelly Franchetti
  • Céline Taveau
  • Will Maier
  • Patricia Anderson
  • 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.

Céline Taveau

Céline Taveau has 8 years of experience in market access. Céline provides senior leadership for projects on strategic market access and HTA's for pharmaceutical, vaccine, and medical device companies. Céline has extensive experience with orphan drugs and has worked on projects in oncology, immunology, cardiovascular, and infectiology. Her experience is wide working on projects for market access strategies, value proposition development, French HTA submissions, and payer advisory boards.

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.

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

14 March 2016

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: Recent Developments in HTA and Reimbursement Decision-Making Considerations for Orphan Drugs in Europe

Céline Taveau - Associate Scientific Director, Mapi Real World Strategy & Analytics – France

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.

  • 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
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 for Orphan Drugs
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

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.

We will first tell 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.

We will then 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 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 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.


Register to Attend Mapi’s Overcoming Challenges in Rare Disease Health Research & Orphan Drug Program Commercialization Workshop:

The Venue

hilton-olympiaHilton London Olympia Hotel

380 Kensington High St,
London W14 8NL, United Kingdom

Tel: +44 20 7603 3333

The Venue

After a busy day in the vibrant city of London, retreat to the Hilton London Olympia hotel. This centrally located hotel boasts 405 guest rooms and suites. Unwind in 20 sq. meters of contemporary space in a guest room. Watch a movie on-demand or catch up on work with WiFi in your room. Indulge in 42 sq. meters of space in a suite and enjoy a separate living area. Executive level and suite guests also enjoy exclusive access to the Executive Lounge, serving complimentary drinks and refreshments.

Dining & Refreshment

The Society Bar & Restaurant provides an inviting dining experience serving a quintessentially British menu with an emphasis on sustainable, locally sourced ingredients. The menu, designed by Head Chef, Rohan Mehta, delivers a wide range of new and classic meals, such as a Trio of British Seafood, fish and chips, English lamb rump, sticky toffee pudding, and afternoon tea. Join colleagues for lunch, or family and friends for dinner at Society, and enjoy delicious cocktails and contemporary cuisine.

In The Area


There’s something for everyone in the inspiring spaces at Olympia London, with hundreds of events, conferences, and exhibitions taking place every year.


Shopping and luxury destination with 5 anchor stores and over 265 luxury, premium and high street retailers. Plus over 60 dining options, a 17 screen cinema, and a range of concierge service are also on site.


Visit the stateroom apartments, gardens, and orangery; learn about former residents and more at this historic working royal residence.


Be entertained and inspired by the Science Museum’s world class scientific & technological collections, exhibitions, and theatrical & IMAX shows.


Spend a whole day interacting with exhibits, and viewing 70 million items within five main collections.