News

The U.S. Food and Drug Administration has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq), marking the first U.S. gene therapy delivered via direct intracerebral (intraputaminal) administration. This milestone expands treatment options for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare, debilitating neurogenetic disorder with historically limited disease-modifying therapies.

The New England Journal of Medicine has published a groundbreaking study detailing the discovery of a previously unknown genetic disorder affecting prenatal development in children — and an experimental treatment that could potentially reverse its effects.

Global Discovery Effort

Through an unprecedented worldwide collaboration, researchers identified children from Egypt, India, United Arab Emirates, Brazil, and the USA who shared strikingly similar symptoms and mutations in the same gene. The condition has been named Zaki syndrome in honor of co-author Maha S. Zaki, MD, PhD, of the National Research Center in Cairo, who first recognized the disorder. The Egyptian Society of Pediatric Neurological and Psychological Diseases has awarded Dr. Zaki the Scientific Excellence Award for this achievement.