Down Syndrome Regression Disorder Clinical Trial

This study is for individuals with Down syndrome ages 8 to 30 who have a diagnosis or symptoms of DSRD including but not limited to:  

• mutism (loss of speech)
• catatonia (unresponsive)
• hallucinations 
• delusions (strong belief in something that is not real or true)
• depersonalization (detached, emotionless)
• insomnia (difficulty sleeping)
• aggression 

The primary objectives of this clinical trial are to study the safety and effectiveness of different potential treatments for DSRD. To do this, our team will define the relative safety profile of Lorazepam, IVIG and tofacitinib in DSRD, and the study doctors will evaluate participants over multiple visits. In addition to clinical evaluations, the participants’ study partners will keep detailed records on the participants’ symptoms. With these data, scientists will also examine the possible reasons behind the development of DSRD by looking for patterns that can help diagnose it.   

Step One: Complete a pre-screening call. 

This call is an initial assessment of the potential participant’s eligibility. To set up this pre-screening phone call, email the Crnic Institute clinical team at dsresearch@cuanschutz.edu. 

Step Two: Attend an in-person screening visit. 

After the pre-screening call, eligible participants will be invited to the Children’s Hospital, Anschutz Campus near Denver, Colorado, or the Children’s Hospital, Los Angeles for a screening visit. Before the screening visit, participants will be given a list of several tests needed to confirm an accurate DSRD diagnosis. 

For participants living outside of the Denver or the Los Angeles area, travel assistance will be provided. 

Step Three: Begin the potential treatment. 

Once fully cleared to participate in the study, participants will have their first study visit where they will play thinking games with a study team member.  

At the end of this visit the participants will find out what arm of the study they are in and be given directions for treatment.  

For some participants, it may be more convenient to schedule this visit for the same trip as the screening visit if all their clinical testing has already been completed.  

Step Four: Return for study visits. 

We want to make sure that all three potential treatments are safe for people with Down syndrome, so participants must return to the clinic for several visits at 2 weeks, 4 weeks, 8 weeks, and 12 weeks. At each visit, participants again play thinking games with a study team member.