Day 1 Congress

  • 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

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