Therapy gives favorable results

GRANADA (EFE).— A pioneering study by the University of Granada (UGR) and the University Hospital of Düsseldorf (Germany) has opened a new therapeutic avenue for pediatric metabolic diseases and led to the development of an orphan drug for a rare and serious mitochondrial disorder.

The research, which was published in the journal “Brain,” demonstrated “for the first time the efficacy of a rationally designed treatment for primary coenzyme Q (CoQ) deficiency,” according to the authors.

It is a rare and severe mitochondrial disease, with very few treatment options.

This breakthrough comes as part of International Mitochondrial Disease Awareness Week, from September 15 to 19. For researchers, "the results come at a key moment of visibility" for these diseases.

The study was based on a rodent model developed at the University of Granada, which "faithfully reproduces the human disease caused by mutations in the COQ2 gene." This allowed for the analysis of pathophysiological mechanisms and the evaluation of the efficacy of a phenolic compound.

Preclinical results showed that “chronic administration of the compound prevented mitochondrial encephalopathy and improved survival.”

First application

This laid a solid foundation for bringing the therapy into the clinical setting.

The first human application was in a three-year-old boy with steroid-resistant nephrotic syndrome and Leigh-type encephalopathy with brain lesions. "The prognosis was very poor," the doctors noted.

After six months of treatment, the patient showed notable changes. "He has achieved complete remission of his nephropathy and significant improvement in his neurological condition."

The child, who was not walking, "has begun to walk independently and has regained 20% of his body weight."

In addition, progress was reported in other areas: "He has shown clear improvement in language, social interaction, and cognitive ability." For researchers, this progress represents a clinical milestone.

"It's been very exciting to see that a treatment we've been working on for years in the laboratory has been able to change the life of a child and their family," said Julia Corral Sarasa, first author of the study.

“It’s a reward as a researcher,” she added.

The University of Granada has applied to the European Medicines Agency for orphan drug designation and has already registered an international patent for the therapeutic strategy.

"These results offer real hope to patients without options and clear potential for clinical application," they said.

The Office for the Transfer of Research Results (OTRI-UGR) supports the initiative to advance toward greater health and socioeconomic impact.