Rare Diseases

Our multidisciplinary rare diseases division leverages their specialist expertise to overcome the unique challenges facing the rare diseases community. Typical challenges that we encounter include:

  • A lack of good quality clinical or health economic evidence
  • Poor awareness and understanding of the condition in the wider community
  • A need for accelerated processes

Through working across a wide range of rare diseases, we have developed strategies to overcome these difficulties, to enable patients to gain rapid access to novel, and often life-extending, treatments.

Rare Diseases

Our experience supporting the healthcare industry in rare diseases includes:

Working across a wide range of orphan and ultra-orphan indications including rare oncology, paediatric diseases and genetic conditions.

Providing scientific support to numerous clients in the pharmaceutical industry, public health and charity sectors.

Delivering high-quality project support across the entire clinical development lifecycle.

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Medical communications
  • Advisory boards
  • Multi-stakeholder workshops
  • Publication planning, manuscripts and conference support
  • Patient materials
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Value and access
  • Global HTA, including NICE HST
  • Health economic modelling, including early pricing models
  • Value proposition creation and value dossier development
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Evidence development
  • Systematic and targeted literature reviews
  • Delphi panels
  • Cost and resource use studies
  • Survey design and analysis
  • Gap analysis

What sets our rare diseases service offerings apart?

  • Provision of a single project team that understands your clinical and health economic needs
  • Clear and transparent project budgets
  • High quality and exceptional customer service
  • Commitment to the active contribution of novel research
  • Commitment to patient-centricity, ensuring the patient voice is at the heart of what we do
Key Themes

Updates to NICE Methods and Processes: Key Impacts for Rare Disease Treatments

In February of this year, we saw the publication of new manuals for technology evaluations by the National Institute for Health and Care Excellence (NICE). Please read our opinion piece titled “Implications for the Future of the Highly Specialised Technology Programme”. A Microsoft PowerPoint summary of the updates to the NICE methods and processes, and their impacts for rare disease treatments is also available to download.


To request a quote, or for more information on the rare diseases services at Costello Medical, please contact Kate Hanman, Head of Rare Diseases – Gene Therapies Lead.

Case Studies

Development of Materials in Support of a HST Submission to NICE

In seeking reimbursement in the UK for a novel treatment in a rare, paediatric, neurodegenerative condition, we developed a suite of materials in support of a submission to the National Institute for Health and Care Excellence (NICE) Highly Specialised Technologies (HST) programme. These materials included clinical and economic systematic literature reviews, a cost-effectiveness model, and statistical analyses of patient-reported outcome (PRO) data.

Our dedicated rare diseases team drew upon expertise from across our Literature Reviews and Synthesis, Health Economics and Statistics divisions to combine the relevant technical skills required to deliver this project. By working on both clinical and health economic components, we were able to efficiently collate and critically evaluate all available evidence to ensure seamless and well-coordinated completion of high-quality deliverables. We worked closely with our client to find solutions to the numerous challenges associated with developing a health economic model in a rare disease, including innovative methods for sourcing utility values and running Delphi panels to obtain inputs from leading global experts in the therapy area.

Organisation of Educational Events and Development of Training Materials in Haemophilia

We have a broad range of experience working in the area of haemophilia, in particular in delivering project types that fall within our Medical Affairs services offerings. We have organised numerous medical education events and advisory boards, where support is provided across both logistical aspects, as well as the close collaboration with key clinical experts for the development of scientific programmes and content. In addition, we have developed interactive training materials for use by internal client teams, coupling creativity with scientifically rigorous content to maximise learning.

Through these collaborations, we have gained extensive experience in a competitive, high-profile rare disease, in which there is a rapidly changing treatment landscape. Therefore, we are perfectly placed to apply our experience and knowledge to the full spectrum of rare diseases, and confidently tackle the range of challenges posed by each indication and treatment.

Providing Economic Evidence for Drug Repurposing

We have a long-term collaboration with the rare disease charity Findacure, a UK charity that builds the rare diseases community to drive research and develop treatments. Our ongoing work with Findacure has included health economic models, design materials and publications on a pro bono and paid basis.

As part of our work with Findacure we have developed three cost of illness/budget impact models in congenital hyperinsulinism, Wolfram syndrome and Friedreich’s ataxia, which provide valuable and novel economic evidence for drug repurposing in rare diseases in support of Findacure’s innovative social impact bond project. We have subsequently supported Findacure in the presentation and communication of the models at a number of conferences, including the annual ISPOR European Congress and DPharm Europe, and been actively involved in discussions with NHS England to make this concept a reality for patients.