Low-Dose Ketamine Shows Promise in Treatment of Rare Syndrome Among Children

In a small study conducted by researchers from the Seaver Autism Center for Research at Mount Sinai, low-dose ketamine was found to be generally safe, well-tolerated, and effective in treating clinical symptoms in children diagnosed with ADNP syndrome, a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.

Findings were published in the journal Human Genetics and Genomic Advances.

The ADNP gene affects brain formation, development, and function, and the protein it produces helps control the expression of other genes. Its mutations are among the most common single-gene causes of autism.

Ten children between the ages of 6 and 12 with ADNP syndrome participated in the study. Researchers used a single-dose (0.5mg/kg), open-label design, with ketamine infused intravenously over a 40-minute period. The ketamine doses were well-tolerated and produced no serious adverse events.

Using parent-report instruments to assess treatment, ketamine was associated with improvements in a variety of domains after 1 week, including social behavior, attention deficit and hyperactivity, restricted and repetitive behaviors, and sensory sensitivities.

“We are encouraged by these findings, which provide preliminary support for ketamine to help reduce negative effects of this devastating syndrome,” Alexander Kolevzon, MD, Seaver Autism Center clinical director, said in a news release. “Future studies using a placebo-controlled design and studying the effects of repeated dosing over a longer duration of time and in a larger cohort of participants are needed before ketamine is used clinically, but our study is a promising first step in that process.”

Reference

New study suggests ketamine may be an effective treatment for children with ADNP syndrome. News release. Mount Sinai. September 6, 2022. Accessed September 22, 2022.