NIH Provides $5.3 Million Grant to Study Down Syndrome

The first clinical trial for Down syndrome regression disorder, a rare and debilitating condition that affects adolescents and young adults with Down syndrome, is being funded by a five-year, $5.3 million grant from the National Institutes of Health Eunice Kennedy Shriver National Institute for Child Health and Human Development. The randomized controlled trial, which is taking place at Children’s Hospital Los Angeles (CHLA) and Children’s Hospital Colorado, will investigate the safety and effectiveness of three different treatments, as well as examine the role of the immune system in the disorder.

The new trial will enroll a total of 60 patients between the two centers, with all patients randomized to receive one of three therapeutic options:

• Lorazepam, an anti-anxiety medication that treats catatonia and other symptoms
• Intravenous immune globulin, an immune-regulating therapy
• Tofacitinib, a type of drug called a JAK inhibitor that suppresses the immune system

Tofacitinib was chosen because it previously has been used to successfully treat people with Down syndrome who have other autoimmune diseases.

“Until recently, there had been no research on this condition since it was first described in 1946,” says Jonathan Santoro, MD, director of the neuroimmunology program at CHLA and co-principal investigator for the study. “We’re excited to launch this first trial to advance our understanding of this disorder and how to best treat it.”