Over the past two years, more and more approvals have gone to therapies for diseases that affect literally only a handful of patients worldwide. Yet it is precisely for these conditions that full-fledged treatments are now being created.
One key example is the FDA approval of the gene therapy Kresladi for leukocyte adhesion deficiency type I (LAD-I). The disease is caused by a mutation in the ITGB2 gene, which prevents immune cells from fighting infections effectively. The drug uses the patient's own cells and restores the immune system's function.
In ophthalmology, the cell therapy Encelto has been approved for the rare retinal disease MacTel for the first time. It slows vision loss — previously, patients faced only gradual deterioration. For recessive dystrophic epidermolysis bullosa (RDEB), known as "butterfly disease," the drug Zevaskyn has been developed. It helps restore skin structure — one of the first practical uses of genetic "repair" of tissues. Patients with TK2 deficiency, an extremely rare mitochondrial disease, have received the drug Kygevvi, which improves muscle function and increases survival.
And finally, one of the most impressive directions is congenital deafness linked to a mutation in the OTOF gene. The gene therapy Otarmeni allows children to begin hearing and, in some cases, approach normal hearing levels.
All of these diseases occur in one in hundreds of thousands, and sometimes one in a million, people on the planet. For a long time they were medical "periphery": too few patients, too expensive research. But it is precisely here that gene therapy is showing its strength — when the cause of the disease is known precisely, fixing one defective mechanism can radically change the life of a single person. Thus, medicine is gradually entering an era in which the word "rare" no longer means hopeless.
