Building blocks for rare disease clinical trials

Suzane McCormack

Network Manager, Rare Disease Clinical Trial Network

Clinical trials offer the possibility of life-changing new therapies. However, numerous factors make trials for rare diseases more difficult to do than those targeting larger groups.

There are a range of measures to overcome these — some well-established and others that need commitment and investment.

Orphan medicine designation

The Orphan Medicine Designation (OMD) was introduced in response to the lack of financial rewards for developing medicines for small patient populations. Administered by the European Medicines Agency in Europe and the Food and Drug Administration in the US, it incentivises development of medicines that meet key criteria in the diagnosis, prevention or treatment of rare diseases. 

Innovative research methodologies

Standard methods to guard against bias when carrying out clinical trials are more difficult to do with small participant numbers. These include blinding, where the participant and doctor do not know the treatment given, and randomisation, where participants are assigned by chance to separate treatment groups. The rare disease research community alongside patient partners, is working hard to develop novel ways to ensure scientific rigour while maximising access to potentially life-changing therapies.

We need greater investment in supporting
resources like patient registries, biobanks
and genetic and diagnostic services.

To make more rare disease clinical trials available to Irish patients, we need greater investment in supporting resources like patient registries, biobanks and genetic and diagnostic services alongside a highly trained workforce. This also requires investment in basic science and the translational research that converts this into meaningful therapies. The new National Strategy for Rare Diseases offers reason for optimism.

Collaboration is key

Stakeholders from science, medicine, industry and regulatory bodies working with patients are vital to research and innovation. The European Rare Disease Research Alliance (ERDERA), the European Rare Disease Research Coordination and Support Action Consortium (ERICA) and European Reference Networks (ERNs) are enabling research across Europe through education, data collection, guideline development and collaboration.

Public and patient involvement

Public and patient involvement throughout the research and clinical trial journey is crucial.   Inclusivity, communication and collaboration ensure trials are best suited and relevant to the lived experience of patients. These topics and more will be explored at the Rare Disease Research Conference, 10th April 2025, O’Reilly Hall, UCD.