Zatolmilast for PPP2R5D Syndrome

This trial tests a new treatment, BPN14770 (also known as Zatolmilast), for individuals with PPP2R5D Syndrome, a condition affecting brain development and function. The trial aims to determine if the treatment is safe and well-tolerated. Participants will receive either the actual treatment or a placebo (a look-alike pill with no active ingredient) for 24 weeks. Those who complete this phase may continue in an open-label phase where everyone receives the real treatment. Individuals with PPP2R5D Syndrome, currently on no more than three psychotropic medications and with a consistent caregiver, might be suitable for this trial. As a Phase 2 trial, the research focuses on measuring the treatment's effectiveness in an initial, smaller group of people.

The trial does not specify if you need to stop taking your current medications, but you can be on up to 3 prescribed psychotropic medications.

Research has shown that BPN14770, also known as zatolmilast, has been tested for safety in people with Fragile X syndrome. These earlier studies found the treatment to be safe and effective in improving thinking skills. This suggests potential safety for other conditions, such as Jordan's syndrome.

Unlike the standard options for PPP2R5D syndrome, which primarily focus on managing symptoms, BPN14770 offers a novel approach by targeting the underlying mechanisms of cognitive impairment. Researchers are excited about BPN14770 because it is designed to enhance cognitive function by inhibiting phosphodiesterase-4D (PDE4D), which plays a role in memory and learning processes. This mechanism is different from current treatments and holds promise for improving cognitive abilities in those affected by the syndrome. Additionally, BPN14770 is administered in a weight-adjusted dose twice daily, which allows for personalized treatment and potentially better outcomes.

Research has shown that BPN14770, also known as Zatolmilast, holds promise for treating Jordan's Syndrome, a rare brain development disorder. In early animal studies, BPN14770 improved behavior in conditions similar to fragile X syndrome, enhancing learning and memory. The treatment increases certain brain chemicals that aid thinking and memory. Although human studies remain limited, these early results suggest potential benefits for individuals with conditions like Jordan's Syndrome. During the 24-week Double-blind Period, participants will receive either BPN14770 or a placebo, with an opportunity for all to receive BPN14770 in the Open-label Extension Period.¹²³⁴⁵