World Orphan Drug Conference 2015

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

Orphan Drug logo Pre-Conference Workshop
Wednesday, April 22, 2015

Speakers Included:

  • Kelly Franchetti, RN, CCRN, CENExecutive Director, Global Patients Insights and Engagement
  • Charles Makin, BSPharm, MS, MBA, MMVice President, HEOR and Strategic Market Access
  • Carla Dias-Barbosa, MScAssociate Research Director, Mapi HEOR & Strategic Market Access


  • Ron Christensen, MDChief Medical Officer
  • Patricia AndersonVice President, Regulatory Services

The presentations from this workshop are now online! Click here to view.



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.


Patient Reported Outcomes Strategy: Endpoint Selection and Development & Mixed Methods Research in Rare Diseases

Carla Dias-Barbosa, MSc, Associate Research Director, Mapi HEOR & Strategic Market Access
In the context of rare diseases, generation of robust evidence on patient-centered outcomes is confronted by the major issue of scarcity of available data. In this context, patient populations are small by nature and should be used wisely. This raises issues in evidence generation in general, but it is even more crucial for patient-centered research. Combined together, lack of specific questionnaires, limited validity of generic questionnaires, and insufficient power severely limit the documentation of patient and caregiver perspective in most orphan drug regulatory dossiers. Mixed Method Research (MMR) involves data collection, analysis, integration of findings and inference drawing using both qualitative and quantitative approaches in a single study. MMR can combine the standardized analysis warranted by quantitative research necessary for evidence generation and the richness of information on patient experience that can be collected though qualitative research (e.g. interviews), even in a small group of individuals. The potential applications of MMR in phase II/III clinical trials for rare diseases include: assessing content validity of COAs, informing conceptual models of disease burden and treatment benefit, supporting endpoint selection and choice of measurement instruments, but also documenting the patient experience of a new drug before market authorization. Education and awareness are needed to facilitate adoption and implementation of MMR in clinical trials, enhance its credibility and ultimately contribute to address the challenges of patient-centered outcomes in rare diseases.


Market Access Challenges for Rare Diseases

Charles Makin, BSPharm, MS, MBA, MM, Vice President, HEOR and Strategic Market Access, Mapi
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 opportuni- ties 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


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

(3-5 years post launch)
Ron Christensen, MD, Chief Medical Officer, Mapi
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 strate- gies successfully address these challenges?


Regulatory Hurdles Orphan Drug - Are They Increasing?

Patricia Anderson, Vice Preseident, 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.

Selected Presenters

Kelly Franchetti
Executive Director, Global Patients Insights and Engagement
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.

Carla Dias-Barbosa
Associate Research Director, Mapi HEOR & Strategic Market Access
Carla Dias-Barbosa has 15 years’ experience in the Patient-Centered Outcomes field, with a specific focus on patients’ beliefs and behavior toward their health and medication. She has participated in the development and validation of a number of PRO measures on patient satisfaction, adherence, and acceptance for a wide variety of disease areas, including rheumatology, pain, ophthalmology, infectious diseases and various rare diseases. She also authored a number of manuscripts published in peer-reviewed journals as well as presentations at international scientific conferences.

Charles Makin
Vice President, HEOR and Strategic Market Access
Having previously held leadership positions in companies such as WellPoint, United, Humana and IMS, Mr. Makin leads Mapi’s HEOR and Strategic Market Access 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.

Ron Christensen
Chief Medical Officer
During his 25 years in the biopharmaceutical industry, Dr. Ronald Christensen has become an industry leader in the development and application of Late Phase studies (peri- and post-approval studies) for post-marketing safety surveillance, clinical effectiveness, outcomes research, and risk management. He has been involved in the strategic design, implementation, and management of hundreds of Late Phase studies and Risk Management Programs. He is an industry leader in the development and application of peri-approval and registry studies to support product commercialization.

Patricia Anderson
Vice President, Regulatory Services
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.

The Venue

The Washington Hilton hotel is conveniently located in the heart of Washington’s popular neighborhoods. Situated on fashionable upper Connecticut Avenue, the hotel is within walking distance of excellent restaurants, shopping, and entertainment, and near Embassy Row and the Adams Morgan neighborhood. With a variety of unique stores, diverse dining options, entertainment, salons, and spas, this vibrant neighborhood is popular with many of Washington’s visitors.

1919 Connecticut Ave., NW
Washington, DC, 20009
Tel: +1-202-483-3000
Fax: +1-202-232-0438

Dining & Refreshment

The Washington Hilton offers four on-site Dupont Circle hotel restaurants, including an authentic neighborhood dining experience in The District Line Restaurant. On the evening of April 23rd, the World Orphan Drug Congress USA is throwing a Gala Dinner for all attendees. Please consider joining your colleagues for what promises to be a fun evening.

To sign up for the dinner, just contact

In the Area

Lining Connecticut Avenue between the hotel and Dupont Circle are gastro-pubs, coffee shops, bistros and a lively Sunday morning farmers’ market (in season).

Just one block east of the hotel is the Adams Morgan neighborhood, a hip, cosmopolitan global village featuring international cuisine, lounges and live music.

A short walk east, the U Street Corridor offers boutique shops, cafes, bars and an authentic neighborhood dining scene.

Just a short walk from the hotel sits the charming residential neighborhood of Embassy Row, home to the political and social elite, featuring more than 50 embassies.

Admire quaint cobblestone streets and historic architecture in Georgetown, a waterfront neighborhood known for its trendy boutiques, fabulous restaurants, and lively nightlife.

With cozy bistros, bustling sports bars, and flavorful international restaurants, many of DC’s most exciting culinary experiences are right in Washington Hilton’s neighborhood.


Across three days in April, World Orphan Drug Congress USA 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.

Mapi is happy to extend a registration discount to all of our clients. When registering for any of 3 delegate ticket packages, just use the promo code RRMT to save 15% on the cost of attendance. Click here to register.