The scientific world has focused on an unexpected molecule for Leigh syndrome, which has no treatment.
According to Medianews.az, a new study published in the journal Cell shows that the substance sildenafil may halt the progression of this severe neurological disease found in children.
An approach called "repurposing" in medicine – that is, using existing drugs for other diseases – offers hope in treating rare diseases. An international research team led by Alessandro Prigione from Düsseldorf University has discovered a promising treatment option for Leigh syndrome.
In a study conducted on 5,600 drug substances, sildenafil, used for treating sexual health and pulmonary hypertension, was selected as the strongest candidate.
What is Leigh syndrome?
Leigh syndrome is a genetic disease caused by damage to mitochondria, the energy source of cells. It usually begins in the first years of life and is accompanied by muscle weakness, respiratory difficulties, and psychomotor developmental delay. Since energy production is impaired, the nervous system is rapidly damaged, and so far, no treatment has been found to alter the course of the disease.
What was discovered in the study?
Researchers created a disease model by converting stem cells obtained from patients’ skin cells into nerve cells in the laboratory. Tests showed that sildenafil improves cellular energy metabolism, reactivates nervous system development, and partially restores mitochondrial dysfunctions.
Initial clinical results
The research was not limited to the laboratory. Within the framework of the "compassionate use" program, the drug was also tested on a small number of patients. According to the results, the drug was well tolerated by children, with observed improvements in motor functions and resilience against metabolic crises.
Experts believe that the combined use of human and animal cell models can significantly accelerate the search for a treatment, and this study represents one of the first real hopes for Leigh syndrome.
Medianews.az