Agenda at a Glance

Orphan Drugs Conference Day 1

Day 1: Tuesday 17th March 2020

  • What is it like living with a rare disease?
  • What impact does rare disease have to the patient and caregiver?
  • Experiences when communicating with healthcare professionals
  • Social and economic implications of living with rare disease


Emily Crossley, Co-founder and joint CEO, Duchenne UK

Edmund Lim, Founder and President,

  • How to find the right patient and design a collaborative clinical trial?
  • Developing strong economic models in demonstrating the value of subsidizing patient healthcare costs
  • The need for accurate forecasting to ensure a successful market access
  • Optimizing a supply chain management system
  • Establishing a well-informed sales and marketing plan
  • Engaging and empowering patient

  • How are this advance therapy fundamentally changing the way rare diseases patients are treated?
  • How are policy makers and regulators approach gene therapy products?
  • Improving clinical development by new age clinical trial design and recruitment
  • Effective framework for developing the delivery system for the next generation of medicine.
  • Making manufacturing and commercialization viable
  • Reimbursement models for gene therapies
  • Gene therapies in the pipeline

  • Overview of current methods for their prevention, diagnosis, and treatment.
  • Strengths and limitation of current development pathways for new drugs, medical devices, and biologics for rare diseases
  • Special challenges that rare diseases create for research and product regulation
  • Current public policies relevant to product development for rare diseases

  • New treatment paradigms for orphan diseases – once and for all?
  • Market access challenges – how to value and price a cure?
  • Business model challenges – hoisted by one’s own petard?

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  • Who are NICE, what do they do
  • How NICE evaluates drugs for rare diseases
  • What are the challenges for the system and how can they be overcome
  • Who should be involved and why

Sheela Upadhyaya, Associate Director - Highly Specialised Technologies, NICE

  • More can be done to address the demand for therapeutic options and cures to treat rare childhood conditions.
  • The implementation of both the Paediatric and the Orphan Regulations can be further improved through pragmatic changes and collaborative research programmes.
  • Opportunities to help optimise orphan paediatric medicines development, improve PIP efficiency, and avoid duplication of studies and unnecessary trials in children, will be discussed.

Thomas Kühler, Head Regulatory Science & Policy, EU/AMEE, Sanofi

Commercialization, Current Trends & Collaborations

David Gillen, Vice President, International Medical Affairs, Vertex

>   A worldwide, purpose built, anonymised, rare disease, web-based registry

>   Developed by the NP Community, run by professionals

>   Together: Advocacy Groups, Clinicians, Researchers and Industry

>   Compliant, secure and fit for purpose

>   A model for rare diseases


Jim Green, Chairman of Board of Trustees, INPDR

How can governments and orphan drug companies help support each other’s initiative to provide access to patients?

>   This talk would touch upon the need for enhanced genomic understanding to tackle some of the rare and orphan diseases;

>   how Genomics England is well placed to assist with this (a data base of 120,000+ whole genomes with linked clinical data); 

>   how we are moving to precision clinical trials in the UK to push this agenda forward

Joanne M. Hackett, Chief Commercial Officer, Genomics England

Martina Garau, Director, OHE

Gulin Donmez, General Manager, Turkey, Amryt Pharma

Access, Pricing & Reimbursement

Edmund Lim, Founder and President,

>   The challenges in getting reimbursement decisions in rare diseases 

>   A case study in Duchenne Muscular Dystrophy 

>   How collaboration can help drive better data, and better outcomes for patients


Emily Crossley, Co-founder and joint CEO, Duchenne UK

Senior Representative, OPEN VIE

>   Understanding evidentiary needs & considerations

>   Recognizing the need for variety in and working effectively with different levels of evidence in these evaluations

>   Introducing seminal frameworks for evaluations

>   Establishing the differences between clinical investigations based on incidences of disease

>   Taking cues & guidance from regulatory bodies

>   Level setting a few of the main alternative & emerging options within the hierarchy of evidence


Eugean Jiwanmall, Senior Research Analyst, Independence Blue Cross

>   International comparison of appraisal processes  

>   Optimizing deliberative processes to determine value 

>   Post appraisal determination of value


Karen Facey, Senior Research Fellow, Impact HTA - Co-Lead Investigator, WP10 Appraisal of Orphan Medicinal Products

Robert Johnstone, Patient Advocate - International Foundation for Integrated Care(IFIC), European Forum for Good Clinical Practice (EFGCP) & Health Quality Improvement Partnership(HQIP)

Innovations, Discovery & Clinical Development

>   Setting up an ultra rare disease clinical trial with a patient group

>   Recruiting patients for clinical trials

>   Working in a large consortium

>   Positive results from an off label study of nitisinone for AKU and from an international phase 3 clinical trial


Dr. Nicolas Sireau, CEO and Chair of Trustees, AKU Society

Rafał Świerzewski, President of Board, Fundation for Patients with Rare Diseases COCARDA

>   Understanding the patients’ needs on a “Rare Clinical Trial

>   Do the clinical endpoints capture the real benefits?

>   Communication with the patient community

>   Design with reimbursement in mind not just approval

>   Patient Reported Outcomes and the need to move to a validated model

>   Design for the failure as well as the success


Bob Stevens, Group CEO, MPS Society & MPS Commercial

>   Learn about the most effective ways to include patients and advocates in designing trials

>   Discover optimal timing and important milestones

>   Understand the need to continue engagement even after the trial is complete


Sonali Chopra, Director of Alliance and Advocacy Relations, Genentech

>   A new strategy for research into rare diseases and the roles that patient organisations play 

>   The unmet need of precision medicine for scleroderma and other rare orphan conditions

>   Working together with industry to enable development and access to therapies


Dr. Fatima Sulaiman, Head of Research and Services, Scleroderma & Raynaud's UK

Advance Therapy Medicinal Products

>   ATMPs and payer landscape, what should we expect in the years to come?

>   Which are the best practices and challenges for accessing ATMPs in major European countries?

>   ARM recommendations for removing structural barriers


Paolo Morgese, EU Director Market Access, Alliance for Regenerative Medicines

Didier Caizergues, Head, Regulatory Affairs Department, GENETHON

>   There are a number of different mutations in the gene that cause cystic fibrosis

>   Genotype-specific medicines have been developed that are disease-modifying for an increasing variety of mutations.  Initially 5% of the population (2012) and by 2020 we anticipate will be for 90%.

>   Challenges remain in terms of understanding the variation in individual responses and managing expectations of the CF community


Dr. Janet Allen, Director, Strategic Innovation, Cystic Fibrosis Trust, UK

>   Allo CAR-Ts will overcome the limitations of auto cell therapies

>   Proprietary chRDNA ('chardonnay") next-gen editing platform substantially improves specificity

>   chRDNAs achieve high efficiency multiplex editing with reduced translocations

>   Disruption of PD-1/PD-L1 axis extends persistence of antitumor activity


Edny Inui, Director, Business Development, Caribou Biosciences

>   Use of antisense oligonucleotide-induced exon skipping to restore the transcript reading frame

>   Exploitation of AAV-mediated gene addition therapy

>   Therapeutic potential of each and update on stage of development


Dr. Linda Popplewell, Lecturer, Department, of Biological Sciences, RHUL

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