Researchers at the Life and Health Sciences Research Institute (ICVS) of the University of Minho have taken an important step in the search for new therapies for Rett Syndrome, a rare neurological disorder that still lacks an effective treatment. The results of the study, now published in the prestigious journal Biomedicine & Pharmacotherapy, show that the experimental drug NLX-101 may alleviate two of the most severe symptoms: irregular breathing and cognitive difficulties.
Rett Syndrome affects about 1 in every 10,000 girls worldwide. Children with this condition usually experience seemingly normal development during the first few months of life but gradually lose abilities such as speaking, walking, or using their hands. Many also suffer from apnea episodes—breathing disruptions that severely impact quality of life and can worsen other symptoms.
The study conducted at ICVS used an animal model of the disease and demonstrated that NLX-101, when administered early and continuously, prevents cognitive deficits. Even after a single dose, the drug significantly improved apnea episodes. Designed to act specifically on a subtype of serotonin receptors, called 5-HT1A, in brain areas involved in cognition and breathing control, it provides the desired therapeutic effects while avoiding adverse side effects.
“Although gene therapy is very promising, aiming to restore levels of the protein affected by the disease-causing mutation, its approval and widespread use will take several years,” explains researcher Daniela Monteiro-Fernandes. “NLX-101 could significantly improve debilitating symptoms of the disease, such as cognitive deficits or apnea, which often put patients’ lives at risk.”
Daniela Monteiro-Fernandes
Further studies are needed to assess the drug’s safety and effectiveness in humans. However, this work paves the way for new targeted therapies with the potential to transform care for those living with this rare and complex condition.
