Enter Sandra Sermone. Her son Tony was the first patient diagnosed in the United States with ADNP syndrome. Now 12, he was diagnosed just a few months after Bertrand was identified as the first patient with NGLY1. That shared experience connected Might and Sermone. Inspired, she launched the ADNP Kids Research Foundation. She now has a registry of 250 children diagnosed with the condition, virtually all those in the world identified so far.
“Matt Davis joined with us after Benjamin was diagnosed and shared my interest in repurposed drugs”, said Sermone. “He’s now the chair of our medical and scientific committee. He told me about the potential ketamine treatment that Matt Might had discovered using AI and we were off to the races. We began validating the information and spent months pulling publications, researching and contacting other scientists. We investigated, drafted ideas and collected clinical data and started preparing to file for IP and to present to our medical research team.”
The Clinical Trial
Sermone then turned to the Seaver Autism Center for Research and Treatment at Mount Sinai in the Icahn School of Medicine in New York, where researchers are conducting the largest study of ADNP syndrome to date. She presented the case for ketamine to center director Joseph Buxbaum, Ph.D., and investigator Alex Kolevzon, M.D., who were intrigued by its potential. After internal investigation, they began the process of initiating a clinical trial and gaining clearance from the Federal Drug Administration to proceed earlier this year.
“The foundation is funding the trial, and our study contact registry provides the study subjects,” Sermone said. “Since ketamine is an already approved drug, we can move ahead quickly to find out if, or hopefully how well, it works. This means we could have a drug available years before a non-repurposed drug. For our children, time is brain, so the faster we can find a treatment, the faster we can hopefully stop some of the negative effects of the disorder.”
Sermone and Davis say the trial should begin enrolling patients this spring.
“This type of re-purposed drug will most likely cost millions of dollars less to develop as the safety studies have already been done,” Sermone said. “The entire phenomenon of re-purposed drugs are nothing short of a miracle for rare diseases like ours with a small patient population that big pharma has no interest in helping.”
“We have high hopes, tempered with caution,” Davis said. “If it works, it could reverse the condition in very young children whose brains are still adaptable enough to overcome the deficits caused by low levels of the protein. It could also provide some benefit for older children, even if it can’t achieve a complete reversal of the effects. That would be a remarkable victory.”
Might believes this is the first time that an artificial intelligence tool has directly led to a clinical trial.
“This is the first time someone has massed enough evidence starting with our recommendations to go to the FDA to get permission to do a study,” Might said. “We’ve always dreamed of the time when someone, such as a foundation or support group, took recommendations forward and did the hard work that led to a patient trial with the potential to really change lives.”
Sermone says that now armed with the ketamine hypothesis delivered by Might and Davis, and with a willing research partner in Mt. Sinai, they only lack two things. More funding and more patients.
“We could be on the verge of an incredible breakthrough for this condition,” Sermone said.
“This is the kind of progress we hope to achieve every day through the Precision Medicine Institute,” Might added. “It’s exciting to know that the clinical trial is underway and that we’ve been able to make a contribution to what we hope is good news for families with ADNP syndrome.”