Rare Diseases: Research Still Lags Behind
Despite increased drug development for rare diseases, the vast majority still lack curative treatment. Reasons for this were discussed at an online seminar by the Care-for-Rare Foundation.
The European Union has approved approximately 200 new medicines for rare diseases since 2000, with one-third of all new drug approvals in the past five years falling into this category.
However, for the overwhelming majority of around 8,000 rare diseases, a curative therapy or cure remains unavailable. The reasons behind this challenge were explored during a recent online seminar hosted by the Care-for-Rare Foundation.
Rare diseases collectively affect about 300 million people worldwide, including four million in Germany. Three-quarters of these patients are children, and up to 30 percent of them die before their fifth birthday. Professor Christoph Klein, Director at Dr. von Haunerschen Kinderspital and founder of the Care-for-Rare Foundation, refers to these individuals as the "orphans of medicine," often overlooked due to lengthy diagnostic processes and the lack of available treatments.
Professor Klein emphasizes that children should have access to research participation to drive medical progress, stating that homeopathy has never led to a cure.
The challenges of researching rare conditions are highlighted by the case of Bernd Rosenbichler, whose nine-year-old son suffers from Alström syndrome, a rare genetic disorder affecting an estimated 1,000 people globally. Limited knowledge about the disease significantly hinders treatment development. Rosenbichler has established a non-profit organization to disseminate information, raise awareness, and foster connections between patients and researchers. A key initiative is the creation of a patient registry to accelerate Alström syndrome research.