The Unique Challenges of Rare Diseases Trials

Our Linical experts share their knowledge and experiences within this intriguing therapeutic area

Rare Disease is a very unique therapeutic area, where it is estimated that fewer than 1 in 2,000 people are affected and patients are often diagnosed at birth or during early childhood. There’s often no standard of care so clinical trials offer a lifeline to patients hoping to lead a normal life where their symptoms can be managed. However, Rare Disease trial management is often complex and presents significant challenges. We’ve asked our Linical Rare Disease experts, Kasia Wos (Project Manager) and Santiago Zas (Project Director), to share their experiences regarding this challenging area and to explain what  makes a clinical trial within Rare Disease successful.

In Wos’s experience, early detection and adequate treatment are essential for managing Rare Disease trials. These trials encompass varied multi-disease conditions that have their own particularities. Due to their rare nature, recruitment for trials pose an additional challenge as patient population tends to be small and generally geographically dispersed. In order to ensure the greatest chance of success, it’s essential to count on a dedicated and agile team, as well as ensuring the development of great working relationships between all study collaborators.

Zas also highlights that patient involvement is crucial, as well as working together with advocacy groups. These groups form real communities where patients and families can share their experiences, exchange ideas, obtain support, and find reliable information about suitable treatments for their pathology. They will often be closely involved with the trials and support patient recruitment efforts.

For both Wos and Zas, observing patient’s benefiting from new therapies is their key motivator. In fact, one of Zas’s blood disease studies proved to be a very special experience. “I saw how the studies’ data was put into practice.  The end result was a successful gene therapy treatment which significantly improved patients’ health and quality of life”. This was achieved in part thanks to Linical, as our monitoring team had a crucial role in giving support to the site team for following the study’s procedures and getting quality data. Collaboration of the Investigational Team was excellent, and the Investigators were highly involved across all study stages.

Success stories such as this raise hope for future discoveries and developments within this challenging field, where so many conditions still face high unmet medical needs. Diseases such as Cystic Fibrosis still do not have a cure, with available treatments limited in their effectiveness. Wos explains, “Cystic Fibrosis trials require a multidisciplinary approach, involving experts from pulmonary medicine, gastroenterology, nutrition and other areas of expertise”. Thankfully there have been recent advances in precision medicine such as targeted therapies for specific mutations or phenotypes of CF. Additionally biomarkers, that identify patients who are most likely to benefit from each therapy, have also been put to use for great effect.

It’s undeniable how the role of clinical trials and the subsequent development of new treatments for rare diseases can have a major impact on the lives of patients and their families. As Wos says, “It’s what makes the work we do particularly meaningful.”

Paula Clemente

Talent Acquisition Manager

Linical Europe