Rare & Orphan Diseases


Rare diseases present unique challenges when conducting clinical trials. One of the biggest challenges in disease areas characterised by small patient populations and a smaller number of specialised sites, is patient recruitment and retention. In addition, reimbursement can also pose challenges to drug developers and smart strategies are required to gain sufficient market access.

ICON is an experienced partner who can help you to navigate the clinical development challenges in rare and orphan diseases. Over the past five years, we have conducted: 

  • 145 rare disease studies involving
  • Over 19,000 patients
  • In almost 5,000 sites globally

Our experienced team of clinical and therapeutic experts have conducted trials in disease areas including:

  • Acromegaly
  • Amyloid Cardiomyopathy
  • Amyotrophic Lateral Sclerosis
  • Ankylosing Spondylitis
  • Familial Amyloid Polyneuropathy
  • Friedreich`s Ataxia
  • Hemophilia
  • Hereditary angioedema
  • Huntington Disease
  • Chronic Inflammatory Demyelinating Polyneuropathy
  • Idiopathic Pulmonary Fibrosis
  • Metachromatic Leukodystrophy
  • Phenylketonuria  
  • Pulmonary Arterial Hypertension
  • Sickle Cell Disease

ICON’s experts can advise on study design, targeted patient enrolment, data management and analysis, visualisation of large real-world datasets, complex regulatory issues and pricing, market access and reimbursement challenges.

Reimbursement of Orphan Drugs

With the average orphan drug today costing $137,782 per person/per year, what strategies can ensure reimbursement? ICON experts recently convened a roundtable to discuss reimbursement and market access issues in rare and orphan disease, specifically how best to identify, obtain and communicate evidence. 

Part 1: Identifying Evidence and Part 2: Obtaining Evidence are freely available.

Register to receive Part 3: Communicating Evidence which examines the importance of setting early expectations and strategies for successful evidence communications.  

ICON and the 100,000 Genomes Project: Advancing the diagnosis of Rare Diseases

ICON is proud to have been selected by Genomics England as its data management partner for the 100,000 Genomes Project, the largest coordinated genome study in human history. The project seeks to profile 100,000 genomes—50,000 each for rare disease and cancer—from 75,000 patients, with medical histories that total millions of data points.

By using ICON’s expertise to manage these immense datasets, the 100,000 Genomes Project is able to ensure accuracy and high-throughput access for all researchers involved while safeguarding patient data with the tightest cybersecurity measures.