Down Syndrome Metabolic Health Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01821300
Recruitment Status : Active, not recruiting
First Posted : April 1, 2013
Last Update Posted : December 8, 2017
National Institutes of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

Brief Summary:

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

Detailed Description:

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
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Cardiometabolic Risk and Obesity in Adolescents With Down Syndrome
Study Start Date : February 2013
Actual Primary Completion Date : August 25, 2017
Estimated Study Completion Date : July 1, 2018

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Down Syndrome

Down syndrome
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.

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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
Blood serum will be retained.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   10 Years to 20 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Participants will be recruited from primary care and speciality clinics, Trisomy 21 events, T21 interest groups, and referrals.

Inclusion Criteria:

  • Both groups: Ages 10 - 20
  • Both groups: Parental/guardian permission (informed consent) and if appropriate, child assent.
  • Down syndrome group only: diagnosis of Down syndrome

Exclusion Criteria (both groups):

  • Major organ system illness (such as leukemia), except for type 2 Diabetes
  • Cyanotic congenital heart disease and/or pulmonary hypertension
  • Medically unstable congenital heart disease
  • Pregnancy
  • Genetic syndrome known to affect glucose tolerance
  • Familial hypercholesterolemia
  • Currently treated with medications known to affect insulin sensitivity (other than diabetes agents in participants with type 2 diabetes)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its 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
Sponsors and Collaborators
Children's Hospital of Philadelphia
National Institutes of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Andrea Kelly, MD, MSCE Children's Hospital of Philadelphia

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Children's Hospital of Philadelphia Identifier: NCT01821300     History of Changes
Other Study ID Numbers: 12-009233
1R01HD071981-01A1 ( U.S. NIH Grant/Contract )
First Posted: April 1, 2013    Key Record Dates
Last Update Posted: December 8, 2017
Last Verified: December 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Children's Hospital of Philadelphia:
Down syndrome
The Children's Hospital of Philadelphia
Body composition

Additional relevant MeSH terms:
Down Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations
Chromosome Duplication