Rare Diseases

Understanding the unique challenges facing the rare diseases industry is what underpins the specialised approach of the multidisciplinary team dedicated to rare diseases at Costello Medical. Through working across a wide range of rare diseases, we have developed strategies to overcome the difficulties faced when there is little clinical or health economic evidence available, poor awareness and understanding of the condition, and a need for accelerated processes to enable patients to gain rapid access to novel, and often life-extending, treatments.

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, in which we have gained extensive experience communicating clinical and economic data in rare diseases to multiple stakeholders
  • Delivering high-quality project support across the clinical development lifecycle, from early-stage regulatory writing and literature reviews, to the development of global economic models for use in reimbursement discussions, and the organisation of large medical education events

To find out more please click here to download an interactive PDF summarising our experience in rare diseases.

What Sets the Support of Rare Diseases at Costello Medical Apart?

Provision of a single project team that understands your clinical and health economic needs. Members of the talented and passionate rare diseases team have extensive experience across all of our service offerings and work collaboratively with other specialist teams in the company. This ensures that a coordinated and consistent approach is taken throughout, whilst also bringing together the best technical expertise for each individual project.

Commitment to research and pro bono work in the area of rare diseases. We stay up-to-date with current developments in the field of rare diseases and play an active role in academic research and discussions in this area. We are passionate about the societal value of addressing the significant unmet need in rare diseases and are proud to provide pro bono support to a number of rare disease charities.

Clear and transparent project budgets. We aim to ensure that our rates are a true reflection of the work we carry out and by assigning a single multidisciplinary project team are able to maximise efficiency in our project delivery, allowing us to provide fair and predictable budgets.

To request a quote, or for further information about our rare diseases services, please contact Annabel Griffiths.


Findacure photography © Barbara Asboth

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 Evidence Development, 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.

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.

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.