Evaluate the safety and efficacy of a 6-month treatment with the JAK1/3 inhibitor in individuals ages 6-22 (inclusive) with Down syndrome.
The role of sympathetic nervous system (SNS) activation in the context of daily stressors which elevate both heart rate, blood pressure, and thereby catecholamine activation for individuals with Down syndrome (DS) remains unclear. Understanding the mechanisms underlying SNS dysfunction in DS is crucial, as it likely contributes to many clinical and developmental challenges, including the underlyin...
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.
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.
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.
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.