News

The ICNA along with the global child neurology community mourns the passing of Professor Robert S. Rust, MD.

November 19, 2024 The U.S. Food and Drug Administration (FDA) has granted fast-track approval to Kebilidi (Eladocagene exuparvovec), the first gene therapy in the United States administered via direct intracerebral injection. This approval represents a significant advance in the treatment landscape for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare and debilitating neurogenetic disorder.

Neurological disorders cause significant morbidity and mortality in children. However, cutting-edge in-utero therapies are transforming the management of these conditions, offering the potential to intervene before birth. Conditions such as spina bifida and genetic disorders like Pompe’s disease are at the forefront of this new frontier. Spina bifida, a condition where the spinal cord fails to close properly, traditionally requires postnatal surgery. The CuRe Trial, led by Dr. Diana Lee Farmer at UC Davis, is pioneering in-utero treatment using mesenchymal stromal cells derived from the mother’s placenta. This groundbreaking approach aims not only to repair the...

Lenmeldy (atidarsagene autotemcel) has received approval from the U.S. Food and Drug Administration. This marks a significant milestone as it is the first gene therapy to be approved by the FDA for the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or early symptomatic early juvenile metachromatic leukodystrophy (MLD). Metachromatic leukodystrophy a debilitating rare condition arises due to a lack of an enzyme known as arylsulfatase A (ARSA), resulting in an accumulation of sulfatides (fatty substances) within the cells. The accumulation of this substance results in damage to both the central and peripheral nervous systems,...

At least two powerful earthquakes struck in southern Turkey and northern Syria in the early hours of Feb. 6. At least 6,200 people have been killed with thousands more injured. The real death toll and impact of the disaster, however, remains to be seen as emergency services race to rescue families and children trapped beneath the rubble. The ICNA stands in support of the children, their families, our colleagues and others who have been affected by this natural disaster. We will never forget the warm Turkish hospitality we experienced during our recent ICNA congress 2022 in...

I am deeply saddened to learn that Michael V Johnston MD. Professor Emeritus of Pediatrics and Neurology at the Johns Hopkins University School of Medicine and former Chief Medical Officer and Executive Vice President at the Kennedy Krieger Institute, Baltimore, passed away on July 30, 2022. Dr Johnston (Mike) was a very active and cherished member of the ICNA and served on the executive board for two terms. He was a brilliant academician and researcher and his seminal work on the role of glutamate and excitotoxicity in hypoxic ischaemic injury and its effects on the developing brain is well...

It is with great sadness we share that Alcy Torres Catefort Sr, MD, father of our esteemed colleague Dr. R. Alcy Torres, a global health leader himself, died January 9, 2022, at home. He was 84.  Born in Ecuador, Dr. Torres received his MD from Universidad Central del Ecuador. He completed his residency in Pediatrics at Children’s Hospital of Paris (Necker-Enfants Malades) in 1968 and obtained additional training on Neonatology at the Mexican Institute of Social Security (IMSS) in Mexico. Dr. Torres’s career began with his service long before becoming a pediatrician. He was an intern at...

A Child without A Shadow The moving story of Professor Shaul Harel’s life from darkness to light, from Holocaust survivor to world expert in pediatric neurology and child development.

Scientists rescue Fukuyama congenital muscular dystrophy-related brain defects in a new organoid model developed using stem cells from affected patients Fukuyama congenital muscular dystrophy (FCMD) is a severe genetic neuromuscular disorder affecting the eyes, brain, and muscles. FCMD is caused by mutations disrupting the glycosylation (addition of sugars) of α-dystroglycan (αDG)—a protein required for maintaining muscle integrity. During fetal development, the lack of glycosylation destroys αDG function, leading to severe muscular dystrophy, intellectual disabilities, seizures, and insomnia. Infants born with FCMD have low life expectancies, and patients typically do not survive into...

Maha S. Zaki, MD, PhDA study published in The New England Journal of Medicine details how researchers discovered a previously unknown genetic disorder that affects prenatal development in children and identified a potential cure. Through a worldwide collaboration, Researchers have identified children from Egypt, India, United Arab Emirates, Brazil, and USA who have all showed similar symptoms and had DNA mutations in the same gene. They have called the disorder Zaki syndrome, after co-author Maha S. Zaki, MD, PhD, of the National Research Center in Cairo, who first noticed it. The syndrome affects prenatal development of several organs...