Conference Agenda

18th Orphan Drugs & Rare Diseases 2022 Americas
Conference Day 1

Day 1: Thursday - 22nd September 2022

  • 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?




Angela Ramirez Holmes, Founder/President, CA Action Link for Rare Diseases, Cal Rare

Khrystal K Davis, JD, Founding President, Texas Rare Alliance

Christine Von Raesfeld, Founder/CEO, People with Empathy

  • Negotiations under H.R. 3
  • Importation of QALY metrics used by reference countries
  • Reduced innovation and development of rare disease treatments
  • Adoption of discriminatory QALYs
  • H.R. 3 alternative (H.R. 19)


Khrystal K Davis, JD, Founding President, Texas Rare Alliance

  • Situation: Regardless of therapeutic area, many small BioPharmas share a few similarities:
  • Complication: A Research culture + informal ways of working + many distractions can result in a rapidly growing, small BioPharma losing focus on what is important,
  • Resolution: BioPharmas should of course continue to leverage their Research heritage, but they must also mature and focus as they grow

Christopher Dandrea, Vice President, Global Program Management, uniQure

  • Connecting with patients and advocacy organizations early in development to influence directional decisions
  • Ideas on how to ensure patient voice is heard in development strategy discussions
  • How patient input to clinical trial design will bring benefits to everyone involved.

Mike Page, VP, Head of Global Regulatory Affairs Development Strategy, Alexion Pharmaceuticals, Inc.

Wendy Erler, Head of Patient Experience and Insights, Alexion Pharmaceuticals, Inc.

  • 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, implementing 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.

Karmen Trzupek, Director, Clinical Trial Services, InformedDNA

  • How is this advanced therapy fundamentally changing the way rare diseases patients are treated?
  • 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
  • Making manufacturing and commercialization viable
  • Unconventional payment models to ensure innovative treatment can be accessed by rare disease patients




Debra Miller, Chief Executive Officer/Founder, CureDuchenne

Karmen Trzupek, Director, Clinical Trial Services, InformedDNA

Eugean Jiwanmall, Sr Research Analyst, Med. Policy & Tech. Evaluation, Independence Blue Cross

2:10 pm - 6:00 pm - Choose to attend between the 2 topic streams


  • cGVHD prevalence and patient path to therap
  • Review of the impact of inflammatory and fibrotic
  • Review of new therapeutic option with novel MOA
    and clinical value proposition
  • Market access readiness

Haya Taitel, Senior Vice President, Chief
Commercial Officer, Kadmon

  • Ethics of individualized therapeutics, including
    inequity of access, conflict of interest, and informed

Lisa Kearns, MS, MA., Division of Medical Ethics, NYU
Grossman School of Medicine

  • With data and technology taking a hold on the
    medical industry, how can we leverage this
    information in a way that truly benefits us all.
  • Capitalism is reaching its limits, in a way that is
    undermining resources, how can we flip the
    narrative to build a thriving economy.
  • Data and technology have the potential to bring
    about the largest distribution of wealth ever,
    are we ready to distribute that wealth evenly?

Christine Von Raesfeld, Founder/CEO, People
with Empathy

  • Presentation Overview
  • Understanding how charities can work with
  • Provide meaningful help

Alan J. Balch, PhD.,CEO, National Patient Advocate

  • The need for patient registries
  • Data as a driver for effective treatment development
  • International Rare Diseases Research Consortium

David A Pearce, PhD, President of Innovation,
Research, & World Clinic, Sanford Health

  • Patient Journey
  • Advocacy
  • Results of a survey of patients with
    cholangiocarcinoma cancer
  • Final thoughts

Melinda Bachini, Director of Advocacy,
Cholangiocarcinoma Foundation


  • Why Engage the FDA Early?
  • Patients First: Importance of Living the Disease
  • Creating Policy Accessing Future Treatments -
    Identify the Gaps
  • Clinical Data: Need for Prospective Studies
  • Real-World Data to Translational Science:
    Finding Drug Targets
  • Basic Science: Existing Science and How it
    Compares to Human Disease State
  • FDA - The Cycle Ends - (Resulting in better
    designed clinical trials)

Monica L Weldon, President/CEO/Founder,
Bridge The Gap - SYNGAP ERF

Scott Dorfman, CEO, Odylia Therapeutics

  • The proprietary TANGO platform can STOKE
    protein production inside a cell
  • We are advancing programs focused on
    multiple targets, including haploinsufficiency
    diseases of the central nervous system and eye
  • We are initially prioritizing the development of
    potential medicines to treat genetic epilepsies,
    such as Dravet syndrome

Barry Ticho, M.D., PhD, Chief Medical Officer,
Stoke Therapeutics, Inc.

  • Learn how to design clinical trials that answer
    patient needs while meeting scientific
  • Discussion points include ways to reduce
    amendments while increasing diverse
  • A case study will illustrate innovative
    approaches that work for companies and

Deborah Collyar, President, Patient Advocates
In Research (PAIR)

  • Discovery and Clinical Development partnering,
  • Investigator engagement
  • Optimal scientific communication

Cherry T. Thomas, M.D., SVP, Clinical Development,
Caribou Biosciences, Inc.

  • Oral, once-a-day inhibitor being developed for
    SCD and BTL; inhibits PDE9
  • Global Ph-2b programs underway in 14
    countries, several in developing world areas
  • Ph-2a 93 patient study data shows reductions
    in VOCs, improvement in HbF
  • 2nd year of Real Impact Grants, mechanism to
    support Community Based Organizations
    ($150K in 2021)

Rahul Ballal, PhD., President & CEO, Imara Inc.

6:00 pm - Chairperson's Closing Remarks

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