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New study suggests ketamine could be a highly effective treatment for children with ADNP syndrome

New study suggests ketamine may be an effective treatment for children with ADNP syndrome
Dr. Alexander Kolevzon, Clinical Director of the Seaver Autism Center for Research and Treatment at Mount Sinai with trial participant. Credit: Mount Sinai Health System

Outcomes of a little, but unique study, led by researchers from the Seaver Autism Center for Research and Treatment at Mount Sinai and published online in Human Genetics and Genomic Advances, claim that low-dose ketamine is normally safe, well-tolerated and effective to take care of clinical symptoms in children identified as having ADNP syndrome (also referred to as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder due to mutations in the experience dependent neuroprotective protein (ADNP) gene.

The ADNP gene affects brain formation, development, and function, and the protein created from it can help control the expression of other genes. ADNP mutations are probably one of the most common single-gene factors behind autism. Ketamine was approved in the usa in 1970 and can be used for anesthesia and pain management, and much more recently as cure for depression. Studies in animal models claim that low-dose could be neuroprotective and increase expression of the ADNP gene.

“We were intrigued by the preclinical evidence suggesting that low-dose ketamine may increase degrees of the ADNP protein and compensate because of its loss in ADNP syndrome, so we designed this study to judge the safety, tolerability, and behavioral outcomes of low-dose ketamine in children with the syndrome,” says Alexander Kolevzon, MD, Clinical Director of the Seaver Autism Center. “We also sought to explore the feasibility of using electrophysiological biomarkers and computerized eye-tracking to assess sensitivity to treatment.”

To be able to evaluate the aftereffect of ketamine, the Mount Sinai research team used a single-dose (0.5mg/kg), open-label design, with ketamine infused intravenously over 40 minutes. Ten children with ADNP syndrome, ages 6 to 12 years, were enrolled. They found ketamine was generally well-tolerated, and there have been no serious adverse events. The most typical adverse events were elation/silliness (50%), fatigue (40%), and increased aggression (40%).

Using parent-report instruments to assess treatment effects, ketamine was connected with improvements in several domains, including , attention deficit and hyperactivity, restricted and repetitive behaviors, and sensory sensitivities, weekly after administration.

Results from the clinician-rated assessments indicated improvement in line with the Clinical Global Impression-Improvement scale, a seven-point scale popular by clinicians to assess just how much a patient’s illness has improved or worsened in accordance with set up a baseline state at the start of an intervention. Importantly, results across clinician-rated and caregiver-rated assessments were largely consistent. The outcomes also highlight the potential of assessing early changes in social attention with computerized eye-tracking and the electrophysiological measurement of a listening task referred to as auditory steady-state response.

“We have been encouraged by these findings, which provide preliminary support for ketamine in reducing negative effects of the devastating syndrome,” Dr. Kolevzon says. “Future studies utilizing a placebo-controlled design and studying the consequences of repeated dosing over an extended passage of time and in a more substantial cohort of participants are essential before ketamine can be used clinically, but our study is really a promising first rung on the ladder for the reason that process.”

Ongoing studies are employing RNA sequencing to measure change in ADNP expression along with other genes, in addition to DNA methylation analysis, which includes been previously referred to as relevant in ADNP syndrome. DNA methylation regulates and silences the expression of genes and is essential for embryonic development. Increased occurrence of rare and extreme DNA methylation levels have already been associated with neurodevelopmental disorders and congenital anomalies.

More info: Alexander Kolevzon et al, An Open-Label Study Evaluating the Safety, Behavioral, and Electrophysiological Outcomes of Low-Dose Ketamine in Children with ADNP Syndrome, Human Genetics and Genomics Advances (2022). DOI: 10.1016/j.xhgg.2022.100138

Citation: New study suggests ketamine could be a highly effective treatment for children with ADNP syndrome (2022, September 6) retrieved 6 September 2022 from

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