There are nearly 8,000 known rare diseases, and new ones are discovered every year. So, despite the rarity of the individual diseases, the total number of people affected is high: an estimated 5 percent of the world’s population. Yet the majority of rare and ultra rare diseases still lack effective therapies. In addition, patients often experience a long diagnostic journey – visiting many different doctors over many years – before receiving an accurate diagnosis. About 40 percent of patients are initially misdiagnosed, and many more never learn what is actually wrong with them.
To address these issues, the European Rare Diseases Research Alliance (ERDERA) has been set up to build on the advancements made by former EU- funded projects such as SOLVE-RD, ERICA, RESTORE and the European Joint Programme for Rare Diseases (EJP RD).
Combating rare diseases with novel therapies
Michael Schmück-Henneresse, head of the BIH Research Group on Experimental Immunotherapy at the BIH Center for Regenerative Therapies, is co-leading a project group of the ERDERA initiative, along with Mitchell Thorn from Pfizer. Their aim is to develop innovative diagnostic platforms that can evaluate therapeutic success and immunogenicity when treating rare diseases, especially in the field of gene therapy. They also seek to improve technologies, procedures, standards and tools in order to promote the safety and efficacy of advanced therapy medicinal products (ATMPs).
The project group specifically aims to develop advanced molecular and cellular platforms for monitoring immune responses to ATMPs, especially in the field of in vivo gene therapy, employing in vitro and in vivo models for this purpose. The goal is to ensure that these platforms are robust enough to capture rare immune events and responses to gene therapy vectors, RNA-based treatments and therapeutic proteins. Strategies will also be implemented to prevent or mitigate unwanted immune responses.
“Through standardized tests for evaluating immune responses to novel therapies, we are laying the foundation for reliable comparisons between laboratories,” says Schmück-Henneresse. “Our feasibility studies will identify specific challenges in the characterization of rare immune events, providing a basis for formulating strategies to prevent unwanted immune responses.”
The advanced platforms will help harmonize standards across Europe while making therapies for rare diseases safer and more effective. This will lead to reduced treatment failures and facilitate the approval of innovative treatments. The collaboration among research institutes, industry partners and patients’ organizations will expand the possibilities of novel therapies and benefit not only patients but the entire healthcare system.
