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

Moderator: Ian Hodgson, Head of Clinical Operations, Mereo BioPharma Group plc



  • Emily Crossley, Co-founder and joint CEO, Duchenne UK
  • Edmund Lim, Founder and President,
  • Benjamin James, Trustee, DMD Pathfinders
  • Bob Stevens, Group CEO, MPS Society & MPS Commercial

  • 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


Dr Rohit Batta, Chief Medical Officer, Vicore Pharma Holding AB



  • Eugean Jiwanmall, Senior Research Analyst, Independence Blue Cross
  • Joanne M. Hackett, Chief Commercial Officer, Genomics England

- 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

-  How are this advance therapy fundamentally changing the way rare diseases patients are treated?

-  How are policymakers and regulators approach gene therapy products?

-  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

-  Reimbursement models for gene therapies

-  Gene therapies in the pipeline


Jonathan Appleby, Chief Scientific Officer, Cell and Gene Therapy Catapult



  • Paolo Morgese, EU Director Market Access, Alliance for Regenerative Medicines
  • Josie Godfrey, Director, JG Zebra Consulting, Project Director, Duchenne UK's Project Hercules
  • Helen Springford, Chief Operating Officer, Illingworth Research Group
  • Karen Matthews, Business Development Manager, NIHR

-   Current state of RNAi therapeutics development

-   Overcoming challenges in developmental process of RNAi treatment

-   Addressing the challenges of delivering RNAi to new cell types

-   RNAi therapies in the pipeline

Senior Representative, EVERSANA

- 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

  • Dr. Rohit Batta, Chief Medical Officer, Vicore Pharma Holding AB

> As the EU Regulation on Orphan Medicinal Products (OMPs) reaches its 20th Anniversary the Office of Health Economics has conducted an study (commissioned by EUCOPE) aimed at assessing how far it has incentivised investment in the R&D of OMPs and what would be the impact of changing core legislative elements.

> Study approach combined different pieces of evidence collection and analysis to assess financial challenges of developing OMPs. The evidence collected and results from data analyses were combined to produce a general assessment of the EU OMP Regulation and a set of messages for policy makers for future developments of the current Regulation.

> To study the financial challenges OMP innovators face, we followed a twofold approach: analysis of financial indicators and Net Present Value (NPV) modelling.

> The EU OMP Regulation has successfully incentivised companies to invest in the development of OMPs

    • Compound annual growth rate of 15% off granted marketing authorisations (MA) for the period 2000-2018.
    • More than a third (35%) of granted MAs are held by OMP-focused developers.
    • Nearly half (46%) are held by broader portfolio companies.

>The EU OMP Regulation is crucial to manage the financial unpredictability of OMPs development

    • The financial performance of OMP-focused companies is characterised by financial instability.
    • OMPs generate lower and more volatile returns than medicinal products for common diseases. The incentives of the EU OMP Regulation are crucial to maintain a healthy R&D pipeline of and investment on new OMPs.
    • Changes in the EU OMP regulation would impact financial returns generated by OMP investment, could significantly decrease the number of developed OMPs and in some cases could threaten the financial sustainability of OMP-focused companies (35% of the marketed products).

>Conclusion: policymakers would need to take into account the broader challenges related to development and access in the OMPs field, including high failure rates in the R&D process, challenges in the generation of real word evidence and the higher financial vulnerability of small and medium OMP-focused companies.

  • Mikel Berdud, Senior Principal Economist, OHE

> 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

> Personal perspective of supporting a child with a rare disease

> Developing a patient organisation and working in partnership with clinicians and pharmaceutical companies – the journey of Alström Syndrome UK

> Patient involvement throughout the life cycle of drug development – CIOMS XI, Patient Involvement in the Development & Safe Use of Medicines

> Understanding what is important to patients and their families - ‘People not subjects’

> Working in partnership

  • Kerry Leeson-Beevers, National Development Manager & Project Lead, Alström Syndrome

> Pediatric oncology is an area of high unmet medical need.

> Oncoheroes was set up to fill this gap. We are a biotech 100% focused on paediatric oncology drug development

> We are building our strategy on a strong connection with the key opinion leaders in the field and with the major international clinical networks. 

> The company's activities spans the entire drug discovery and development spectrum. In parallel, Oncoheroes is in-licensing promising clinic-ready candidates from academia and the

industry pipeline. We have a strong focus on re-purposing for paediatric indications either de-risked developmental compounds or already approved drugs,

> Our first asset is volaserib, a drug candidate in-licensed from Boehringer Ingelhelm, to be developed for paediatric rhabdomyosarcoma.

  • Dr Cesare Spadoni, Co-founder & Chief Operating Officer, Oncoheroes Biosciences Inc.

> Partnering with patient groups drives focus and innovation, whilst Open Science outputs drive maximum impact globally.

> High quality open science protein, molecule and assay tools as a critical requirement in the post-genome era.

> How the SGC approach accelerates progress for all stakeholders in the drug discovery pipeline.

> Case studies of SGC partnerships with patient groups and medical charities have advanced drug discovery.


  • Dr Eileen McNeill, Programme Manager – Disease Foundations, Oxford University, Structural Genomics Consortium

Access, Pricing & Reimbursement

  • Josie Godfrey, Director, JG Zebra Consulting, Project Director, Duchenne UK's Project Hercules

> Patients will give immeasurable

value to life and even small real-world benefits. Value also comes from

cost-benefit to the healthcare system and community

> However, with high value and high prices, we can easily tip the balance to become unaffordable & unsustainable - for patient, payors and insurance/ government reimbursement

> Value is double-edged. We need

to work together towards a sustainable balance between patient needs, payor

prioritization, and pricing/profits


  • 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

  • Samantha Oliver, Joint Managing Director, 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

> What mobile research nursing is all about.

> Utilising mobile research nursing in paediatric trials.

> Giving the child control over their participation in the trial.


  • Helen Springford, Chief Operating Officer, Illingworth Research Group

>   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

> Volv Global’s inTrigue AI algorithms identify diagnostic signals from patient medical record data and help patients receive treatment earlier by enabling earlier diagnosis, particularly of rare and difficult to detect or diagnose diseases.


  • Christopher Rudolf, Founder and CEO, Volv Global

> 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

> The development of these products is worldwide or at least European, we will highlight some of the problems met regarding missing of harmonization or the design of clinical trials. The regulators have developed some supports and expedited programs to  promote the development of these orphan drugs .We will describe this during our presentation.


  • Didier Caizergues, Head, Regulatory Affairs Department, GENETHON

> 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

>   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

> Taking the example of lysosomal enzyme related diseases, I will present evidences on how a genetic, molecular and pathobiological understanding of rare and ultrarare diseases discovery and product development

> Evidences of how an organelles centric discovery can identify and lead to development of novel approaches for genetic defined neurodegenerative diseases and why patient centric associations and foundations (such as the Michael J. Fox Foundation in GBA1 Parkinson) support those research avenues


  • Manolo Bellotto, President, Gain Therapeutics SA

> 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, Royal Holloway University of London

Scroll to Top