Wednesday 7th - Thursday 8th December 2022

Femida Gwadry‐Sridhar, Founder & CEO, Pulse Infoframe

  • A plethora of issues and challenges experienced by person with rare disease and their caregivers
  • The impact on patient and of caring for someone with a rare disease
  • What support options are available for carers of people with a rare disease(s) from health and social
    care providers, charities or support groups.
  • What challenges still remain to increased equity for people living with a rare disease and their



  • Allyson Damikolas, Mother & Carer to a Rare disease patient
  • Audrey Damikolas, Rare Disease Patient

  • What are the growing trends in Rare Disease treatment
  • How can governments and orphan drug companies help support each other’s initiative to provide access to patients?
  • 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

Femida Gwadry‐Sridhar, Founder & CEO, Pulse Infoframe


  • Review common issues
  • Trends in approvals and INDs
  • International collaborations
  • PFDD and COAs for Rare diseases and the role of the patient
  • Recent guidances; Pre-IND, Natural History, Eligibility Criteria

  • How do you generate RWD and evidence in support of your initiative to ensure meaningful results?
  • What data types and structure is needed in support of your research?
  • The important role of patients in evidence generation and how to keep them engaged?

Femida Gwadry‐Sridhar, Founder and CEO, Pulse Infoframe

  • Key considerations accelerating Orphan Drug development and commercialization
  • Learn about challenges facing the developer and strategies to overcome them
  • Best practices for developing orphan drugs, and how to apply them

  • How an EAP aligns with orphan drug development and commercialization plans.
  • Impacts of CoVid-19 on the Early and Expanded Access environment.
  • The role of Real World Data and how EAP’s can provide an ideal platform to collect the data..
  • EAP’s as a long term plan for the launch in non-commercialized countries.
  • Practical guide to initiating a successful EAP.

Robert Donnell, Executive Vice President, Medicines Access, Smartway Pharma

  • 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

Monica L Weldon, President/CEO/Founder, SYNGAP1 Foundation

  • Addressing challenges for Rare diseases therapy development
  • Current strategies to advance rare diseases therapy development
  • Efficient and effective models for therapy development that are scalable and sustainable

  • ATP hydrolysis by ATP synthase can co-exist with ATP synthesis.
  • CV ATP hydrolysis is increased in conditions of impaired respiratory function.
  • Epicatechin is a competitive mimetic of ATPIF1, selectively inhibiting ATP hydrolysis without inhibiting
  • Selective inhibition of CV ATP hydrolysis prevents ATP depletion independent of respiratory

Cristiane Benincá, Imaging Core Director, UCLA Metabolism Theme

  • Addressing challenges on timely and adequate recruitment of eligible trial participants.
  • How to overcome different regulations and requirements of regulatory authorities?.
  • Development of efficient trial designs relevant to small populations to gain the most information from
    the available data.
  • > How, in this highly regulated sector, to get this innovative treatment onto the market in time to help
    patients with orphan conditions?
  • > Promoting international collaboration and advance rare diseases research worldwide

  • Various critical roles that PACs play so that patient-centricity can become a reality rather than just the
    latest fashionable catchphrase.
  • It isn’t easy so why do it? Innovative partnering yields unique benefits boosting capabilities, medicine
    development and commercialization
  • Establishing a disease-specific advocacy groups to share knowledge and best practices.
  • Utilizing PACs so that the understanding of rare diseases and developing interventions for their
    management can be more efficient, productive and beneficial to all stakeholders.
  • Panelist:
  • Sonali Chopra, Director, Alliance and Advocacy Relations, Genentech

• For over 50 years, the United States has had a Newborn Screening Program that aims to improve the
quality of life for infants; there are now 61 selected disorders that are screened for. The question is: Are
all the infants in the U.S. tested for these treatable diseases? The surprising answer is NO! This
presentation explores the coined expression “Death by Zip Code,” bringing to light the reasons for
state-by-state disparities and exploring a solution to address this problem.

Monica L Weldon, President/CEO/Founder, SYNGAP1 Foundation

• What are diversity, equity, and Inclusion (DEI)?
• The purpose of Advocacy Groups (AG)
• How the integration of DEI in Advocacy Groups benefits the Rare Disease Community?
• Improving Patients Access through DEI and AG
Luisa Leal, CEO & Founder, Akari Foundation

  • Addressing access inequities through innovative, new models, such as Value-Based Agreements (VBAs)
    in the U.S. and Outcome-Based Agreements (OBAs), which reflect the long-term value of transformative,
    novel therapies.
  • Supporting early access by shifting focus from the assessment of a drug in isolation to a more holistic
    assessment of the value new therapies provide across the entire healthcare landscape.
  • Bridging the educational gap to ensure stakeholders across the heathcare ecosystem understand the
    clinical, societal, economic, and innovative value represented by novel therapies.
  • Maximizing value for patients through improved health outcomes and meticulous measurements of
    value, comparing outcomes with costs.

Debbie Drane, Senior Vice President, Global Commercial Development, CSL Behring

  • When traditional EAPs are not always appropriate
  • What are the alternative options?
  • Cross border access- key considerations
  • Developing a balanced, hybrid approach to early access

Sam Lucas, SVP Expanded Access, Durbin PLC, part of uniphar group

  • Patient recruitment: The need to go multinational - no country has all resources to pull it off in rare diseases. With ORDIUSA, we are building collaborative bridges between US and India to accelerate clinical research and sharing of best practices.
  • Taking clinical trials to patients’ homes - reducing burden of participation (This is a part of PFDD)
  • The end to end continuum or patient journey - awareness, education, diagnosis, treatment, research, clinical trials as standard of care.

Christine Von Raesfeld, Patient Advocate, More Than Lupus, Ambassador, PatientsLikeMe

  • Brief narrative summary of first symptoms to diagnosis and enrollment in natural history study at Mt.
    Sinai in New York
  • Description of first engagement with the family support organization and subsequent collaboration
    with the committee that met with the FDA
  • Description of what it is like to be turned down for enrollment in clinical trials
  • Discussion of the empowering nature of opportunities to engage in patient advocacy events with the
    pharmaceutical corporation
  • Describe the rejection from enrollment in pediatric clinical trials and failure to access the
    compassionate use (managed access) program
  • What it is like to finally achieve FDA approval and gain access to our life-saving therapy

Kara AyIk, Lecturer, UC Merced & Co-author, Extraordinary! A Book for Children with Rare Diseases

  • Overview of the strengths and limitations of VAFs
  • Addressing the barriers and best practices
  • How to optimize the value assessment and appraisal of Orphan Drugs for reimbursement purposes?

• What are the opportunities and challenges of orphan and rare diseases from market access standpoint
• Innovative launch strategies and guidelines needed for optimal access
• Evidence needed to secure patient access at the right time and right cost
• Is there any benefit and derived from different early access programs
• Real-world cases of what works and what doesn't
• 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.

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Tel. +44 203 567 1321
Tel. +44 203 567 1321
Tel. +44 203 567 1321