Mechanistic Investigation of Therapies for Down Syndrome Regression Disorder
Individuals with Down syndrome (DS) have an increased risk of numerous co-occurring conditions, including the neuropsychiatric condition known as Down Syndrome Regression Disorder (DSRD). A DSRD diagnosis often includes a sub-acute onset of catatonia, mutism, depersonalization, loss of ability to perform activities of daily living, hallucinations, delusions, and aggression and is most commonly observed in adolescents and young adults. The study evaluates the safety and efficacy of three currently prescribed therapies: lorazepam, intravenous immunoglobulin (IVIG) and tofacitinib.
• Individuals with DS between the ages of 8 and 30 years, inclusive. DS is broadly defined to include complete trisomy 21, Robertsonian translocation trisomy 21, partial trisomy 21 (segmental duplication), and mosaic trisomy 21.
• Diagnosis of possible or probable DSRD per 2022 consensus guidelines.
• Must agree to random treatment assignment.
• Must agree to complete a washout of any medications intended to treat symptoms of DSRD or that may interfere with study interventions.
• Must be able to present with a study partner or legal guardian at all study visits.