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Study Protocol Number Study Title and Description
25-0503
Dysautonomia in Down Syndrome

This study wants to learn how adults with Down syndrome (DS) respond to everyday stress compared with adults without DS of the same sex and age. This study will look at changes in heart rate, blood pressure, and other body responses during stress.

24-0432
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.

20-0482
A Patient Registry to Learn More about People with X and Y Syndromes

This study will collect data from health records about people that have variations in their X & Y chromosomes to learn about their health. We also ask if people are willing to join future studies about X & Y variations.

19-3027
Learning More About Turner Syndrome (INSIGHTS Registry)

This study wants to collect medical information from people with Turner Syndrome at clinics across the country to learn more about the condition. We are gathering this data in a national registry to help improve the health and care for people with Turner Syndrome in the future.

15-2170
Human Trisome Project

This study wants to better understand Down syndrome and related health problems by comparing blood and saliva samples from people with and without Down syndrome. Right now, we are mainly looking for people who do not have Down syndrome but do have chronic constipation to join our study.

23-1267
Role of Dulaglutide in Improving Insulin Levels in Adults with Cystic Fibrosis Related Diabetes

In this study we want to understand more about the causes of cystic fibrosis related diabetes (CFRD) and find better ways to treat it.

24-0387
Learning More About Achondroplasia (Biobank Study)

In this study we want to learn more about achondroplasia and the genetic factors and health outcomes linked to it. To do this, we are collecting DNA (from saliva samples) from people who have achondroplasia and their family members.