Study

Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1 (MISSION-1)

In this study, we want to learn more about inflammation and the immune system in people with Down syndrome. We are testing whether a study drug called tofacitinib can help lower inflammation and improve health and development in children and young adults with Down syndrome.

Why this Research Matters

Research has shown that people with Down syndrome have higher levels of inflammation. This can lead to other health problems. This may be because people with Down syndrome have a dysregulated immune system that can attack healthy parts of the body. This study is testing whether a drug called tofacitinib can help “calm” the immune system and improve health in people with Down syndrome. Tofacitinib is approved by the FDA to treat some health problems. It is not approved to treat Down syndrome, which is why tofacitinib is considered investigational in this study.

What to Expect

There are two groups in this study. This helps us compare how well tofacitinib works. Group 1 will take the study drug, tofacitinib. Group 2 will take a placebo. A placebo looks the same and is taken the same as the study drug but has no active ingredients. You/your child will be randomly assigned to one of the groups, like flipping a coin. Neither you nor the study team will know if you are getting tofacitinib or the placebo. In both groups, you/your child will come to study visits where we will do a physical exam and ask you questions about your health. We will use a needle to take a blood sample and place stickers on your/your child’s chest to check heart activity. At some visits we will also do neurodevelopmental assessments. At the end of the study, if you/your child were in Group 2 (placebo group), you will have the option to receive tofacitinib and come to additional study visits.

Study Duration

If you/your child join this study, you will come to up to 6 study visits at Children's Hospital Colorado over about 6 months. If you/your child were in Group 2 and you choose to get tofacitinib at the end of the study, you will be in the study for an extra 6 months and will come to up to 4 extra study visits.

Who can Participate

6-22 years old

You/your child may be able to join this study if you:

Are between 6 and 22 years old
Have any form of Down syndrome
Weight at least 10 kg

You/your chld may not be able to join this study if you:

Are taking immunosuppressant medications
Have an active infection
Have a history of blood clots, stroke, or heart attack
Have major kidney or other organ problems
Have had an organ or bone marrow transplant
Have had cancer within the past 5 years
Have a medical condition or take a medication that could make taking tofacitinib unsafe

The list above does not have all requirements. A member of the study team will make sure that you/your child meet all study requirements before joining.