Agenda

22-24 July 2019

  • Unique challenges in living with a rare disorder
  • Social implications and aspects of living with a rare disease
  • Consequences of living with a rare disease
  • Experience with the healthcare system

Moderator:
Angela Ramirez Holmes, Founder/President, Cal Rare

Panelists:

  • Jacob Fraker, Legislative Associate, CFRI
  • Rachelle Dixon, President/Co-Founder, HSAN1E
  • Rachelle Dixon, President/Co-Founder, HSAN1E
  • Victoria Damikolas, 13 yrs.old 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

Moderator:
Femida Gwadry‐Sridhar, Founder & CEO, Pulse Infoframe

Panelists:

  • Jim Shaffer, Chief Business Officer, Eiger BioPharmaceuticals
  • Serge Messerlian, President, Actelion Pharmaceuticals US
  • Alix Alderman, VP, Regulatory Affairs and Global Market Access, PellePharm
  • Javier San Martin, Senior Vice President, Head of Global Clinical Development, Ultragenyx

  • Updates on the natural history studies
  • Issues for evaluating and validating biomarkers as surrogate endpoints
  • Flexibility on the non-clinical aspects of the evaluation of novel drug compounds
  • Consideration of safety questions and added information on changes to drug substance or drug

Acting Associate Director Rare Diseases Program, FDA*

  • Data from clinical trials provides a basis for evidence-based treatments – but patients in the real world don’t always resemble trial patients
  • Creating stakeholder engagement
  • Real world data provides a sense on how patients respond to treatment outside a trial
  • Natural history from patients contributes to real world data helping inform drug development

Femida Gwadry‐Sridhar, Founder and CEO, Pulse Infoframe

  • Identifying a pathway and treatment for an ultra-rare disease
  • Working through extraordinary circumstances
  • Ensuring access to patients around the world through a well-designed and clearly communicated EAP

Jim Shaffer, Chief Business Officer, Eiger BioPharmaceuticals

  • Key challenges faced by companies developing gene therapy products for rare diseases
  • Regulatory Filing Strategy based on comparative policies and incentives across regions – North Americas, Europe, EMEA, China etc.
  • Regulatory pathways that can help expedite the drug development processes

Mridula Shukla, Global Program Lead, Regulatory Affairs, Adverum Biotechnologies, Inc.

  • Learn how the ``Invitae Detect`` sponsored testing model is bringing companies together in the same disease space to generate broader awareness and faster diagnosis for more patients with rare disease.
  • Learn how the ``Invitae Detect`` sponsored testing model is bringing companies together in the same disease space to generate broader awareness and faster diagnosis for more patients with rare disease.
  • Learn how the ``Invitae Detect`` sponsored testing model is bringing companies together in the same disease space to generate broader awareness and faster diagnosis for more patients with rare disease.

Katherine Stueland, Chief Commercial Officer, Invitae

  • PTG-300, hepcidin mimetic, regulates iron utilization for the potential treatment of dysregulated erythropoiesis and iron overload
  • PN-943, oral a4b7 integrin inhibitor, controls immune cells for the potential treatment of enteritis and colitis
  • Multiple ways to demonstrate early clinical proof-of-concept

David Y. Liu, Chief Scientific Officer, Head of R & D, Protagonist Therapeutics

  • Key steps in the discovery, regulatory and development process
  • Challenges when dealing with small patient population
  • From disease pathology and mechanism of action to clinical outcomes

Javier San Martin, Senior Vice President and Head of Global Clinical Development, Ultragenyx

  • 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

Carl K Edwards, CSO, DNX Biopharmaceuticals

  • Widely applicable novel design for gene therapy and rare disease drug development
  • Patient-centric approach to enhance statistical analysis of inter-group comparisons
  • Highly efficient design with 50% to 80% reduction of sample size
  • Extensible framework for comparative effectiveness analysis with natural history controls of real-world evidence

Qing Liu, Founder & Principal Consultant, QRMedSci, former Statistical Science & Program Strategy Lead, Amicus Therapeutics

  • Rare diseases can be very debilitating, and it is often not feasible to conduct a traditional placebo- controlled trial. Based on recent FDA guidance documents, there has been an
    increasing interest in the use of natural history (NH) controls to support regulatory filings and submissions.
  • In some situations, the NH studies are not even available, in which case one can digitize the targeted NH data from relevant published plots, and extract the data to perform the relevant analyses to show comparative effectiveness.
  • We propose a virtual matched control method such that the same set of natural history control data is used to provide virtual matching for each patient of the single-arm trial.
  • This 1-to-many virtual matching results in matched differences that are statistical dependent and cannot be analyzed with existing one-sample test procedure.
  • We resolve this issue via an exact conditional intra-patient (ECIP) test of patients receiving the treatment where the null distribution of the test statistic is evaluated according to the actual control distribution.
  • In contrast, a traditional one-sample test assumes a symmetric distribution of the error terms about zero under the null hypothesis. By shifting the location of the control distribution, we can identify the tipping point at which the ECIP test loses statistical significance.
  • The tipping point analysis allows assessment of the robustness of results of the single-arm trial.

Fred Holdbrook, Director of Biostatistics, Amicus Therapeutics

  • 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

Moderator:

Panelists:

  • Bruno Gagnon, Senior Vice President, Development Operations, Eidos Therapeutics Inc.
  • Javier San Martin, Senior Vice President, Head of Global Clinical Development, Ultragenyx
  • Fred Holdbrook, Director of Biostatistics, Amicus Therapeutics
  • Vij Senthilnathan, Senior Clinical Study Manager, BioElectron Technology Corporation

• What are the key drivers and innovation that will steer the innovation and access of orphan drugs?
• Existing regulations and policies utilized by countries to enable access to orphan drugs
• Overcoming challenges in getting rare diseases’ patient access to orphan drugs
• Multi-disciplinary approach and patient centered support to improve accessibility and further advances which will impact the next generation aiding patients of the future.

Panelist:

  • Khrystal K. Davis, Patient Advocate & Writer, Hunt for a Cure, Author, Zebra Leaf Publishing
  • Anthony Gucciardo, SVP, Strategic Partnerships, National Kidney Foundation
  • Daniel Anderson, Head, Commercial Partnerships Invitae
  • Carl K Edwards, CSO, DNX Biopharmaceuticals

• Unifying stakeholders to improve access and health
outcomes
• Creating empowered patient advocates
• Texas Rare Alliance achievements in Texas
• Advocacy efforts going forward

Khrystal K. Davis, Patient Advocate & Writer, Hunt for a Cure, Author, Zebra Leaf Publishing

• 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
• It isn’t easy so why do it? Innovative partnering yields unique benefits boosting capabilities, medicine development and commercialization

T Anthony Howell, Esq., Co-Founder & Digital Community Builder, rareLife solutions, Creators of onevoice.world

  • Identifying and evaluating research
  • Innovative funding
  • Academia vs Biotech
  • Grants vs Investment

Debra Miller, CEO, CureDuchenne

  • Patients as Key Partners in Drug Development
  • Role of Real-World Evidence in Rare Disease
  • Value of Registries in Rare Disease – pros and cons

Sonal Bhatia, Vice President, North America Medical Lead, Rare Disease, Pfizer*

  • How to improve knowledge and recognising a rare condition for patients to gain a sense of ease and trust
  • Addressing issues on practical challenges
  • Improving access and supporting patients

Reserve for Gold Spotlight Presentation

  • 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, CureClick
Harsha Karur Rajasimha, Co-Founder, Board Director, Organization for Rare Diseases India and USA

  • How can stakeholders work together to remove barriers to patient access?
  • How can developers make research goals and use of data to be transparent and to be informed about progress or roadblocks in order to build a relationship based on trust with patients?
  • What enhanced ongoing patient support beyond the clinic can be provided to encourage positive relationships between patients and healthcare providers?
  • Effective collaboration contributing to faster and wider access of medicines to patients

Panelist:
Anthony Gucciardo, SVP, Strategic Partnerships, National Kidney Foundation
Angela Ramirez Holmes, Founder/President, Cal Rare

  • Payers are becoming more aggressive in scrutinizing price and implementing restrictions to patient access that have traditionally been reserved for competitive, high budget impact drug classes
  • Recent development in orphan drugs pricing and reimbursement and the impact of those changes
  • Addressing some of the major issues facing payers and orphan drug manufacturers, highlighting the way these have been handled by both parties.
  • Implementing measures designed to limit exposure to costs associated with orphan drug reimbursement.

Lauren Nelson, Account Director, US Market Access - Rare and Oncology, Sanofi Genzyme*

  • Patient registries from advocacy groups are not always your best source for trials and surveys - The BEST source actual patients who are involved and are self-advocates
  • Patient Centricity is claimed but not often achieved by CRO’s and they may not even know it. Find out why
  • Why patients are leery of registries and most avoid them
  • The rules of double-blind studies leave patients in the “cold”. There are strategies to keep them invested and Involved
  • You need to know what patients face in day-to-day challenges or you will lose them

Tom Lambdin, Co-Executive Director, Ben’s Friends Patient Communities

• Virtual Support, Authenticity and Safety at Ben's Friends which is an interactive network of over forty-seven online communities which provide emotional and social peer support for people whose lives have been touched by a rare disease.
• It is not a patient advocacy group but rather a peer to peer Support Group
• Building a successful interactive support community, with a positive culture, takes online tools, years of effort,and trial and error.
• Factors which have come together in creating a safe and supportive online environment for Ben's Friends members
• Infrastructure Ground rules Human investment and intervention
• Monitoring Network cohesion
• Be prepared to ask lots of questions!

Clasina Field, Co-Executive Director, Ben’s Friends Patient Communities

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