New finding regarding potential treatment of ADHD and anxiety and its implications for the 22q Community

Researchers at the Children’s Hospital of Philadelphia are partnering with a medical technology and therapeutics company for further investigation of a new potential treatment for Attention Deficit Hyperactivity Disorder (ADHD), anxiety, mood disorders and sleep disorders in individuals with 22q11.2 deletion syndrome as well as the general population.

The treatment involves something called precision medicine. Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes. By focusing on the actual biology of the disease, the aim is to establish more effective treatments.

To understand how this announcement may relate to you or your loved one, you must understand something important about the 22q11.2 deletion. All individuals with the typical 22q11.2 deletion (A-D) are missing a copy of the RANBP1 gene (located between A-B) which is known to be involved in the MGluR pathway. Anyone with 22q11.2 who has a smaller or “nested deletion” (between B-D or C-D) would have this gene present. The vast majority of individuals with 22q11.2DS (~85%) have this gene missing. The MGluR pathway is known to affect development of the brain and brain function. Specifically, mutations in this pathway affect learning, memory and anxiety.

This preliminary research has indicated improvements in those with brain and behavior symptoms such as ADHD, anxiety, mood and sleep disturbance. The treatment is an oral medication called NFC-1. It is a non-stimulant neuromodulator that was well tolerated in the initial clinical trial (a small group of 30 patients), with no treatment-related serious adverse side effects reported.

Though the preliminary results are promising, it is important to note that this is a very small study size, and the first report of its kind. Further studies are planned and more information about this new treatment will be shared as it becomes available.

As always, the ­International 22q11.2 Foundation will strive to understand the significance of this exciting research for the 22q community. As we do, we will share what we learn with you. Please keep in mind that this is an ongoing study and the drugs or compounds mentioned are not available to the general public. Questions yet to be fully answered include whether or not there are benefits for all ages and, if so, whether or not the benefits are sustained over time. Should this drug continue to demonstrate benefits, information about dosages and frequency will have to be developed. And, of course, above all else, safety will continue to need to be demonstrated.

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