Clinical trial for rare genetic disease aided by artificial intelligence

Clinical trial for rare genetic disease aided by artificial intelligence

Clinical trial for rare genetic disease aided by artificial intelligence

The ADNP/ketamine test was the first clinical study generated by information derived from the Precision Medicine Institute’s artificial intelligence equipment.

Clinical trial for rare genetic disease aided by artificial intelligenceMatt Might, Ph.D., director of the UAB Precision Medicine InstituteInformation gained through artificial intelligence has opened the door to potential treatments for a rare genetic neurodevelopmental disorder. conclusion . published in Human genetics and genomic advances suggest that low-dose ketamine is generally safe, well-tolerated and effective for treating clinical symptoms in children diagnosed with activity-dependent neuroprotective protein syndrome, a disorder resulting from mutations in the ADNP gene.

Low-dose ketamine was identified as a potential therapeutic target of ADNP syndrome Hugh Kaul Precision Medicine Institute Feather University of Alabama at Birmingham, that information was relayed ADNP Kids Research FoundationThe nation’s leading advocate for ADNP syndrome research. That organization reached out to investigators Sewer Autism Center for Research and Treatment at Mount Sinai Hospital, which conducted the clinical trial and published their findings online Aug. 27.

The impetus to investigate ketamine, an FDA-approved drug used in anesthesia, pain management and depression, came from an artificial intelligence tool called Medicare. Matt Mitt, PhD, director of the UAB Precision Medicine Institute, is a computer scientist by training who made himself an expert in precision medicine after the birth of his son with a rare genetic condition. He developed Medicare with funding from the National Center for Advancing Translational Sciences.

Maybe and his team fed the world’s medical literature into Medicare. It then used artificial intelligence logic to make the deduction. In simple words, if one presents it with as much information as possible about a disease or condition, it will sift through the literature in search of possible consequences.

“We had a surgical resident at UAB whose son had ADNP syndrome,” May said. “I was also in contact with Sandra Sarmon, founder of the ADNP Kids Research Foundation, which now has a registry of 250 children with the syndrome. We were able to present Medicaren with enough information on ADNP to ask for an answer. And the answer was ketamine. “

According to National Institutes of HealthADNP syndrome is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, and fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract. ADNP syndrome causes behavioral disorders such as autism spectrum disorder.

Ketamine has been approved for use in the United States since 1970. Sermon, whose son was the first person in the United States to be diagnosed with ADNP syndrome, began pouring through scientific studies, which were flagged by Medicare.

“In several studies using animal models, researchers reported that ketamine appeared to promote ADNP production in brain cells,” Sermon said. “Children born with ADNP syndrome have one healthy copy and one broken copy of the ADNP gene. The healthy copy produces the ADNP protein, which is essential for proper neurological development, while the broken copy does not. As a result, The child does not receive enough ADNP protein for normal development.”

Sermon presented evidence found to investigators at Mount Sinai, a leading institute on ADNP syndrome research, which began clinical trials in 2020.

“We were concerned by the preclinical evidence that low-dose ketamine may increase ADNP protein levels and compensate for its loss in ADNP syndrome, so we conducted this study to evaluate the safety, tolerability and behavioral outcomes of low-dose ketamine. children with the syndrome,” said Alexander Kolevzon, clinical director of the Sever Autism Center. “We explored the feasibility of using electrophysiological biomarkers and computerized eye-tracking to assess sensitivity to treatment. also demanded to be installed.

Using parent-report tools to assess treatment effects one week after ketamine administration in a wide range of domains including social behavior, attention deficit and hyperactivity, restricted and repetitive behaviors, and sensory sensitivity was related to the improvement.

can be found inside matt 20180810 007 1740The precision medicine team uses an AI tool called MedicanRain to search for potential therapeutics.Improvement is indicated based on the Clinical Global Impression-Improvement Scale, a 7-point scale commonly used by clinicians to assess whether the baseline status at the start of an intervention Relative how much the patient’s disease has improved or worsened. , Importantly, the results of the physician-rated and caregiver-rated assessments were largely consistent. The results also highlight the potential for assessing early changes in social attention with computerized eye-tracking and electrophysiological measurements of an auditory task known as the auditory steady-state response.

“We are encouraged by these findings, which provide preliminary support for ketamine to help reduce the negative effects of this devastating syndrome,” Collevzon said. “Future studies using a placebo-controlled design and studying the effects of repeated doses over a longer period of time and in a larger cohort of participants are needed before ketamine can be used clinically, but our study is in that process.” A promising first step.”

“If these early results are validated, we will already have an FDA-approved drug that can reverse the condition in very young children and possibly provide benefits to older children as well,” Sermon said. “We may be on the verge of an incredible breakthrough for this condition. We need more families experiencing ADNP syndrome to come forward, and most importantly, for us to fund the next phase of research. More resources are needed.

This may be the first time an artificial intelligence tool has directly conducted a clinical trial.

“This is the first time anyone had gathered enough evidence starting from our recommendations to go to the FDA for approval to start the study,” May said. “This is the kind of progress we hope to achieve every day through the Institute of Precision Medicine. These results are incredibly exciting, and on the small role we played in bringing this discovery to families with ADNP syndrome.” we are proud.”

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