Down Syndrome Metabolic Health Study
|ClinicalTrials.gov Identifier: NCT01821300|
Recruitment Status : Active, not recruiting
First Posted : April 1, 2013
Last Update Posted : December 8, 2017
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
We hypothesize that DS is associated with worse cardiometabolic risk factors for a given body mass index compared to controls. This difference arises at least in part, from increased fat tissue.
|Condition or disease|
|Down Syndrome Trisomy 21|
DS affects 1 per 800 births and is one of the most common causes of developmental disability in the US. Life expectancy for Down syndrome has increased significantly: estimated median survival in the US in 1997 was 49 years. DS is associated with an increased risk for obesity, with an estimated prevalence of 47-48% in adults and 30-50% in children with DS. Adolescents with DS are more likely to have increased adiposity compared to unaffected peers and may be at increased risk for obesity-related co-morbidities, such as type 2 diabetes and cardiovascular disease. How one defines obesity in DS is not clear. Individuals with DS have short stature and possibly increased adiposity, and the body mass index (BMI) used to define obesity for otherwise healthy populations may not accurately depict body fatness or capture cardiometabolic risk in DS.
Congenital heart disease (CHD) affects approximately 50% of individuals with DS; the National Institutes of Health Heart Lung and Blood Institute (NHLBI) Working Group on Obesity and Other Cardiovascular Risk Factors in Congenital Heart Disease highlighted the high prevalence of obesity in the setting of CHD, and called for studies to identify obesity measures that are more sensitive than BMI as well as studies of CVD risk prevention. Unfortunately, clinicians caring for obese adolescents with DS with or without CHD have little scientific evidence upon which to base guidance regarding cardiometabolic risk (CMR): data regarding CVD risk and prevalence of pre-diabetes and T2DM in obese adolescents with DS are lacking.
The measure of body fatness which best predicts CMR in DS is not known. We plan to compare BMI and other measures of body fatness in healthy controls and adolescents with DS to determine which measures best capture CVD and/or T2DM risk. These data will equip medical providers with the tools to better assess risk, initiate prevention measures, and guide screening in adolescents with DS.
|Study Type :||Observational|
|Actual Enrollment :||255 participants|
|Official Title:||Cardiometabolic Risk and Obesity in Adolescents With Down Syndrome|
|Study Start Date :||February 2013|
|Primary Completion Date :||August 25, 2017|
|Estimated Study Completion Date :||July 1, 2018|
Our goal is to enroll 155 subjects with Down syndrome, and to compare their data to our control group.
Our goal is to enroll 105 typically developing controls, who are matched to the Down syndrome group by age, sex, race, ethnicity, and BMI-z score.
- Cardiometabolic risk factors [ Time Frame: day of visit ]Non-HDL cholesterol, lipoprotein subclass particles, blood pressure, insulin resistance, inflammatory markers, and adipokines will be measured by blood test. Glucose tolerance will be measured by an Oral Glucose Tolerance Test in overweight subjects only. Adiposity will be measured by Dual-energy X-ray absorptiometry and anthropometric measurements. Cardiac end organ injury will be assessed by pulse wave velocity and echocardiography.
- Psychosocial risk factors [ Time Frame: date of visit & 2 weeks following visit ]Lifestyle (diet and physical activity)will be assessed via questionnaires on the date of visit. Participants will be asked to wear a physical activity armband at home for the 7 days following the visit, and to speak to a research nutritionist on the phone 3 times in the 2 weeks following the visit. Questionnaires will be done with participants and parents on the day of the visit to determine body image and quality of life.
Biospecimen Retention: Samples Without DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01821300
|United States, District of Columbia|
|Children's National Medical Center|
|Washington, District of Columbia, United States, 20010|
|United States, Pennsylvania|
|The Children's Hospital of Philadelphia|
|Philadelphia, Pennsylvania, United States, 19104|
|Principal Investigator:||Andrea Kelly, MD, MSCE||Children's Hospital of Philadelphia|