22nd Orphan Drugs & Rare Diseases Global Congress 2024 Americas

Addressing Scientific and Regulatory Challenges to Advance New Treatments for Rare Diseases

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Orphan Drugs & Rare Diseases Global Congress 2024

The Fastest Growing Orphan Drugs & Rare Diseases Networking Event. 

Dear Colleagues,

Facilitate Live is again proud to present our Orphan Drugs and Rare Diseases
Global Congress 2024 Americas. It’s the 20th in the series of our Flagship Orphan Drugs &
Rare Diseases event. This congress will provide you with a comprehensive overview of the
critical issues shaping the future of Orphan Drugs and Rare Diseases.

In the United States, 1 in 10,000 people, or around 30 million Americans are affected by more
than 10,000 known rare diseases. Rare disease are classified as any disease which affects less
than 200,000 Americans. Most rare diseases are life-threatening and many does not have
treatment. Half of the sufferers are children and 30 percent of them will die before the age of 5,
due to lack of available treatment. The complex biology and lack of understanding of the
natural history of rare diseases makes drug, biologic, and device development in rare diseases
very challenging.

Accurate diagnosis and treatment for these diseases has also been teeming with regulatory and
logistical barriers. There is an urgent need for a regulatory framework that encourages safe
therapeutic innovations and helps ensure their timely access to patients.

According to reports (Fortune Business Insights), the global Orphan Drugs Market size is
projected to reach USD 368.43 billion in 2030, at a CAGR of 11.6% during the forecast period,
2023-2030. Biological Orphan drug which has been use in treating rare diseases and in oncology
therapy area possesses a substantially higher share in the global market as new cancer-related
disease emerges and series of FDA approvals will result in increased commercialization of these
drugs. The growing demand for immunomodulators will also contribute to the orphan drugs
market growth. Increasing R&D initiatives and investments by prominent players and patient
advocacy involvement have resulted in major pharmaceutical breakthroughs, and the
development of blockbuster drugs for the treatment of several rare diseases will create
opportunities and contribute exponentially to the overall market growth.

The two-day Congress aims to offer insights into how to improve the diagnostic process and
access to treatments. Strategies and best practices, innovations, technologies and concepts that can promote rare diseases product development will be discussed in an interactive, thought-
provoking and uplifting manner.

We look forward to welcoming you to the congress!

Jocelyn Raguindin

Jocelyn is Conference Director at Paradigm Global Events (PGE). She has over 15+ years experience in organizing pharma-industry conferences and has been at the helm of every PGE conference since 2013. Jocelyn is based in London, UK.


  • Commercialization of Orphan Drugs: Top issues facing the community today
  • What are the major drivers and therapy areas that possesses a higher market share
  • Key developmental strategies carried out and Influencing factors that may affect market
    share to stand out in this industry
  • Increasing R&D initiatives and investments by prominent players and patient advocacy
    involvement that resulted in major pharmaceutical breakthroughs
  • Patients perspective: what really matters to rare disease patients and caregivers?
  • Regulatory framework that encourages safe therapeutic innovations and helps ensure
    their timely access to patients.
  • Impact of orphan drug legislation on innovation and solidification of the biotech industry
  • Trends and evolution of Advanced Therapy Medicinal Products
  • Trends and Strategies in the Development of Orphan Drugs for Oncology Indications
  • Recent discoveries, development and innovation that impacts rare diseases
  • How to improve the diagnostic process and access to treatments
  • The importance of patient networks and incorporating diverse patient voice in diagnosis
    and clinical trial recruitment
  • Global collaborations to improve diagnosis and care for persons living with a rare disease
  • Sustainability, pricing legislation, and multi-stakeholder management in addition to the
  • Opportunities and challenges for Rare Disease policy shaping in Emerging Markets
  • Rare diseases and Mental health
  • Opportunity to network with Peers, potential Partners and Investors


This congress is specially created for valued stakeholders in the Rare Disease community:

Presidents, Heads/Chiefs, VPs, Directors, and Managers in the area of:

  • Clinical Research Organizations
  • Research and Development
  • Personalised Medicine
  • Regenerative Medicine
  • External R&D Innovation
  • Innovative Medicine
  • Rare and Ultra-Rare Diseases
  • Cell and Gene Therapy
  • Translational Science
  • Molecular Geneticist
  • Program Management
  • Patient Advocacy Groups
  • Public Affairs
  • Medical Affairs
  • Regulatory Affairs
  • Market Access
  • Pricing and Reimbursement
  • Health Economics Outcomes Research
  • Commercial Development
  • Investments and Funding
  • Product Specialists
  • Global Strategic Services
  • Business Planning and Operations
  • Pharmacies
  • Academia
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Key Industry Expert Speakers

Rogerio Vivaldi

President and Chief Executive Officer

Sigilon Therapeutics, an Eli Lilly and Company


Chief Development Officer


Siddhart Jain

Medical Director, Global Medical Lead


Andrea C. Furia-Helms, M.P.H.

Director, Patient Affairs Staff, Office of Clinical Policy and Programs, Office of the Commissioner, U.S. Food and Drug Administration

U.S. Food and Drug Administration


General Manager Northern European Cluster

Egetis Therapeutics AB


Chief Strategy Officer

Foundation for Sarcoidosis Research


Vice President

International Niemann-Pick Disease Alliance (INPDA)



Bridge the Gap - SYNGAP Education and Research Foundation


Head of Chiesi Global Rare Diseases

Chiesi Group


Head of Patient Advocacy

Chiesi Global Rare Diseases


CEO, Global Genes

Global Genes


Co-Founder/President- Stronger Than Sarcoidosis

Stronger Than Sarcoidosis


President, CEO & Chairman

Cornerstone Pharmaceuticals

Michael Eging

Founder, Executive Director

Rare Access Action Project (RAAP)


Principal and Founding Partner

Health Policy Strategies


Chief Scientific Officer & Co-Founder

AXONIS Therapeutics, Inc.


Chief Program Officer

Amicus Therapeutics


Founder and President

Rare Disease Innovations Institute, Inc.


Exec. Director, Head, Patient Advocacy & Engagement

Fulcrum Therapeutics


Executive Director

New York City Hemophilia Chapter

David Young

President, Research & Development

Processa Pharmaceuticals, Inc.

Annette Maughan


KBG Foundation

Mohamed H. Ladha

President & GM, North America


Patricia Weltin


Beyond the Diagnosis

Monique Mulkern

Head of Global Launch Excellence

Alexion, AstraZeneca Rare Disease

Smitha Jagadish

Vice President, Head of Rare Diseases and New Modalities


Andrew Leger

Head of US Business Development


Samuel L. Seward, Jr. MD,

Professor and Chair, Department of Medicine

Mount Sinai

Alison Schecter

Chief Executive Officer

Molecules to Medicine Advisory Group

Alan J. Balch

Chief Executive Officer

National Patient Advocate Foundation

Emily M. Parks

Founder, CEO


Julie Breneiser

Executive Director

Gorlin Syndrome Alliance

Ruth Jacob O’Keefe


ThinkGenetic, Inc.

Ryan Miller

Director of Clinical Science and Diagnostics

PTC Therapeutics


Content Rich Program Agenda!  Featuring Keynote Presentations, Stream Sessions, Panel, and Round Table Discussions.

Conference Agenda

Day 1: Thursday - 14th November 2024


  • Impact of new innovations to patients and caregivers
    What difference do these recent innovations have made to their lives?
    What must be done to accelerate innovations and broaden access at the same time?
    What challenges still remain to increased equity for people living with a rare disease and their families?

Julie Breneiser, Executive Director, Gorlin Syndrome Alliance

Kristin Smedley, President, Curing Retinal Blindness Foundation

  • Siblings are an often-overlooked member of the rare disease ecosystem but play a valuable role and have unique insights into rare disease.
  • Siblings can, and should, be seen as caregivers in rare disease as they often play a pivotal role in activities of daily life within the home
  • The phrase “unaffected siblings” is inaccurate for while a sibling may not have the rare disease, they are still affected in many aspects of their life
  • How can we generate more evidence to support the important role that siblings play in caregiving?

Joslyn Crowe, Vice President, International Niemann-Pick Disease Alliance (INPDA)

  • What innovative changes are coming in research, clinical development, manufacturing, registrational paths, and commercial models that will impact the rare disease community
  • Insights and recommendations for those preparing for their go-to-market
  • Stakeholders collaboration to continue fulfilling unmet needs?
  • What R&D strategies can be implemented to accelerate the market access for orphan drugs?
  • Challenges in bringing orphan drugs to patients after approval


Giacomo Chiesi, Head of Global Rare Diseases, Chiesi

Monique Mulkern, Head of Global Launch Excellence, Alexion, AstraZeneca Rare Disease

  • Sickle cell serves as a great example of a neglected orphan disease
  • Historical treatment developments and current landscape
  • Cultural and patient group concerns regarding progress
  • Voxeletor in Europe -progress today
  • Innovative models for collecting RWE in SCD
  • ‘Big’ Pharma vs SMEs in the development landscape-which is best?

Nigel Nicholls, General Manager Northern European Cluster, Egetis Therapeutics AB

  • How an EAP aligns with orphan drug development and commercialization plans
  • Ethical considerations for EAPs in the Orphan Drug environment
  • The role of Real World Data and how it can integrate with EAPs
  • EAPs – outside traditional markets
  • Practical guide to initiating a successful EAP


  • Finding, engaging, and genetically screening patients outside of traditional academic sites can improve the patient
    experience, decrease time to diagnosis, and accelerate trial enrollment for hard to find rare disease patients.
  • Attendees will gain insights gleaned from our most impactful genetic screening programs, implement genetic testing programs and working collaboratively with patient advocacy groups.
  • Success in rare disease clinical trial enrollment and retention necessitates expanded access, more inclusive outreach strategies, and technology-driven solutions.

Mohamed H. Ladha, President & GM, North America, RECORDATI RARE DISEASES

  • 30 years pioneering Rare disease development and commercialization.
  • Impact of orphan drug legislation on innovation and solidification of the biotech industry
  • Lessons for new modalities

Rogerio Vivaldi, President, CEO, Sigilon Therapeutics, an Eli Lilly and Company


  • Overcoming hurdles to getting advanced therapies to more rare diseases patients around the world
  • Improving clinical development by new-age clinical trial design and recruitment
  • An effective framework for developing the delivery system for the next generation of medicine
  • Unconventional payment models to ensure innovative treatment can be accessed by rare disease patients
  • Technologies that improve scalability, decrease the cost of goods, enhance overall safety, or increase durability
  • Making manufacturing and commercialization viable

Alison Schecter, Chief Executive Officer, Molecules to Medicine Advisory Group

Caroline Kurtz, Chief Development Officer, Synlogic

  • Potential Treatment Option(s) and Overall Needs in Orphan Indications Must be Considered.
  • Seriousness and Quality-of-life of the Orphan Condition Must be Considered

David Young, President, Research & Development, Processa Pharmaceuticals, Inc

  • Overview of Synthetic Biotics approach to treatment of metabolic diseases
  • PKU background and unmet need
  • SYNB1934v1 design
  • Phase 2 results
  • Design of global Phase 3 study of Synpheny-3
  • Summary and forward look

Caroline Kurtz, Chief Development Officer, Synlogic

  • Definition of Orphan and Ultra-orphan Indications in Oncology
  • Challenges of Development: The Regulatory and Developmental Environment
  • Role of Big Pharma: Recent Trends
  • Prospective Strategies to Overcome the Challenges

Sanjeev Luther, President & CEO, Cornerstone Pharmaceuticals

  • In vivo phenotypic screens can identify therapeutic targets underlying common pathological problems in neurological and rare disorders
  • KCC2 potentiating therapies for neurological and rare disorders involving excitation/inhibition imbalance and neuronal circuit disinhibition in the CNS
  • Orphan drug indication prioritization and commercialization: Portfolio of KCC2 therapies to match target-product-profile (TPP) and modality to patient needs

Shane Hegarty, Chief Scientific Officer & Co-Founder, AXONIS Therapeutics, Inc.

  • Neurodevelopmental disorders (NDDs) include a broad class of disorders that affect brain development during childhood
  • Many NDDs are monogenic rare disorders with a known genetic cause and afford the unique opportunity to correct the genetic defect by gene augmentation, upregulation, silencing or editing the causal mutation
  • Success in drug development for these debilitating pediatric disorders will require innovative thinking in terms of platform- izing both technologies as well as the commonalities in the disease symptoms.

Smitha Jagadish, Vice President, Head of Rare Diseases and New Modalities, BIAL

The importance of “I Don’t Know”

  • Throwing out the playbook
  • What not the Why
  • Truth & Tears

Scientific Method for all

  • Observation from all angles
  • Where the answers truly lay
  • Open and accessible
  • Path less taken
  • The shared concern

The post that changed lives

  • Support from all sides
  • Right input from the right places at the right time
  • Overwhelming despair to share
  • Motivation through collaboratio
  • Changes to the status quo

Patricia Weltin, CEO/Founder, Beyond the Diagnosis 

Annette Maughan, CEO/Co-Founder, KBG Foundation

  • Due to the Inflation Reduction Act of 2022 (IRA) (and anticipation of efforts around S.1264, the SMART Act) the future of innovation of the orphan drug pipeline will be significantly damaged for current and future rare disease patients.
  • The IRA significantly damages and erodes the incentives for innovators to invest and develop rare therapies. During implementation, CMS determined to start the negotiation clock based on the first orphan indication, not when the innovator loses legal protections from negotiation.
  • In 2021, RAAP conducted a study that modeled the impact of provisions that included exploration of increased costs for participating in Medicare Part D, the costs of punitive provisions to force acceptance of government price setting, and the erosion of incentives to pursue indications in smaller populations.
  • Our study found the impact of these provisions were both inflationary and costly on a product-by-product basis in Medicare Part D of between 400 and 800 percent. Such increases in costs, coupled with price controls and incentives that make rare disease investments even less certain, have combined to have a devastating effect on rare disease innovation.
  • Given the approach of the upcoming election season, and anticipated efforts to frame the SMART Act as completion of the IRA pricing scheme, the time to act is now to protect the orphan drug pipeline and rare disease patients. 

Tara J. Britt, Founder and President, Rare Disease Innovations Institute, Inc.
Michael Eging, Founder, Executive Director, Rare Access Action Project (RAAP)
Jayson Slotnik, Principal and Founding Partner, Health Policy Strategies


Conference Agenda

Day 2: Friday - 15th November 2024


  • The foundational value of building collaboration through trust, respect, transparency, and empathy
  • Not all advocacy organizations are alike: assessing the landscape
  • Real-world examples of innovative digital solutions driving collaboration among multiple stakeholders
  • Value of partnering with advocacy organizations to create innovative patient-driven solutions


Julie Yu, Chief Program Officer, Amicus Therapeutics

Kristin Smedley, President, Curing Retinal Blindness Foundation
Alan J. Balch, Chief Executive Officer, Patient Advocate Foundation

  • Shifting Perspectives: Explore the transformative power of looking through a different lens and redefining how we perceive disability. Discover how this shift not only opens new doors for individuals with blindness but also redefines the landscape of innovation and inclusion within industry.
  • Incorporating Diversity in Clinical Trials: Uncover the untapped potential of incorporating people with blindness and disabilities within clinical trial design teams. Learn how their unique insights and experiences bring invaluable depth to the development process, enriching study outcomes and fostering a more comprehensive understanding of patient needs.
  • Empowering Trials Through Inclusion: Delve into the multifaceted benefits of enrolling patients that are blind in clinical trials. Explore how their participation enhances trial authenticity, strengthens patient engagement, and ultimately paves the way for groundbreaking treatments that cater to the diverse needs of the rare disease community and beyond

Kristin Smedley, President, Curing Retinal Blindness Foundation

  • Building community networks to reach underserved and underrepresented communities
  • The importance of trust building in improving diagnosis and clinical trial participation
  • The power of meeting patients where there are

Tricha Shivas, Chief Strategy Officer, Foundation for Sarcoidosis Research 

  • We are focused on putting rare disease patients at the center of everything we do and are committed to letting the patient voice shape who we are
  • We have the opportunity to remain close to the patients, caregivers and their providers, always learning from them and responding to their needs.

Stuart Siedman, Global Head Patient Advocacy, Rare Diseases, Chiesi

  • Creating patient-clinician relationships that create a sense of ease and trust
  • Addressing issues on practical challenges
  • Multi-disciplinary approach and patient centered support to improve accessibility and further advances which will impact the next generation aiding patients of the future
  • Obtaining an accurate diagnosis in rare disease remains a formidable challenge
  • Learn how PTC partnered with ThinkGenetic AI to find at-risk patients in medical records
  • Hear about opportunities and challenges to expand the technology to other rare conditions
  • Patients with a rare condition could be hiding in plain sight, based on their symptoms.

Ryan Miller, Director, Clinical Science and Diagnostics, PTC Therapeutics
Ruth O’Keefe, Chief Executive Officer, ThinkGenetic, Inc. 

Jodi M. Wolff, Vice President, Patient Advocacy & Engagement, Rejuvenate Bio

  • Opportunities and challenges for Rare Disease policy shaping in Emerging Markets
  • Medical affairs leadership in elevating the voice of patients to improve access outcomes
  • Significance of early stakeholder conversations & identification of evidence needs – embracing patient reported outcome measures
  • Building access specific competencies in emerging Market Medical Affairs
  • Pivotal role of Early Access Programs

Siddharth Jain, Medical Director –LSDs & HAE, Global Medical Affairs, Takeda

  • Discuss rare disease organization strategy and resource management
  • Discuss multi-tiered approach to discovery
  • Discuss how to manage through pitfalls and setbacks

Samuel L. Seward, Jr. MD, Professor and Chair, Department of Medicine, Mount Sinai

  • Mental Health is part of total Health
  • The incidence of mental health disorders is significantly higher in individuals with a rare disease, compared to the general population.
  • Remove the stigma concerning Mental Health and asking for help through constant conversation.
  • Coping and Awareness of Mental Health in the Rare Disease Community
  • Rare Disease organizations and Pharmaceutical companies should make Mental Health a priority
  • Who and where to ask for help for Mental Health?

Frank Rivera, Co-Founder/President, Stronger Than Sarcoidosis

Jeremy Griffin, Executive Director, New York City Hemophilia Chapter

  • In rare disease, patients look ‘upstream’ with hope for development of new treatments and access to trials and ’downstream’
    for better, faster diagnoses and access to treatments. No other disease category faces the same sorts of challenges all along the
    continuum. Recent market conditions have halted development of a number of promising potential therapies, and new policies,
    coverage decisions, financial pressures and other factors have generated additional gaps, delays and difficulties in access to
    newly approved medicines. We’ll explore new approaches that are emerging from discovery to treatment in response to these

Craig Martin, President, Chief Engagement Officer, Rithm Health

  • Rare disease programs have historically leveraged creative methods to deal with difficulties inherent in orphan disorders
  • The industry is evolving to address new roles in sustainability, pricing legislation, and multi-stakeholder management in addition to the patient
  • Partnerships can make rare disease programs more successful in meeting and surpassing new industry standards
Andrew Leger, Head of US Business Development, ferrer
  • Breaking down barriers for access
  • Strengthening health systems around the world and accelerating pathways to diagnosis
  • Stakeholders to address the rare diseases’ ecosystem gaps to collaboratively build a sustainable roadmap for better health and a brighter future for the patients suffering from rare diseases.
  • Challenges and opportunities in creating sustainable healthcare for all.

Giacomo Chiesi, Head of Global Rare Diseases, Chiesi


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what people say

From a patient advocacy organization perspective, was a very informative meeting. Learned a lot from presentations and networking that will inform how we can add value to the advocacy-patient-drug developer dialogue.
Dr. Nadine Tutton
Scientific Director, Research, Association for Frontotemporal Degeneration
I was very impressed with the format, the content was interesting and well done. I felt I learned a lot and was glad to be able to attend.
Senior Director
Business Development at Pharm-Olam, LLC

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