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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.
ClinicalTrials.gov Identifier: NCT01821300
Recruitment Status : Active, not recruiting
First Posted : April 1, 2013
Results First Posted : January 9, 2019
Last Update Posted : January 31, 2019
Sponsor:
Collaborators:
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.


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Study Type : Observational
Actual Enrollment : 257 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, 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Down Syndrome

Group/Cohort
Down syndrome
No intervention occurred as this was a cross sectional observational study.
Control
No intervention occurred as this was a cross sectional observational study.



Primary Outcome Measures :
  1. Non-HDL Cholesterol [ Time Frame: Study Visit 1 ]
    Non-HDL cholesterol measured via fasting blood draw

  2. Lipid Subparticles [ Time Frame: Study Visit 1 ]
    Lipoprotein subclass particle analysis run on samples from fasting blood drawn Study Visit 1.

  3. Lipid Subparticles (Size) [ Time Frame: Study Visit 1 ]
    Lipoprotein subclass particle analysis run on samples from fasting blood drawn Study Visit 1.

  4. Insulin Resistance [ Time Frame: Study Visit 1 ]
    Insulin Resistance (HOMA-IR) was calculated as [fasting insulin (uIU/mL) x fasting glycemia (mmol/L)]/22.5

  5. Cardiometabolic Risk Biomarker Proteins [ Time Frame: Study Visit 1 ]
    hs-CRP, PAI-1, and IL-6 run on samples from fasting blood drawn Study Visit 1.

  6. Abnormal Glucose Tolerance [ Time Frame: Study Visit 1 ]
    Impaired fasting glucose (IFG) was defined as fasting glucose ≥ 100 mg/dl. Impaired glucose tolerance (IGT) was defined as 2-hour glucose 140-199 mg/dl measured as part of an oral glucose tolerance test.

  7. Visceral Fat [ Time Frame: Study Visit 1 ]
    Adiposity measured by Dual-energy X-ray absorptiometry

  8. Body Mass Measures [ Time Frame: Study Visit 1 ]
    Adiposity measured by Dual-energy X-ray absorptiometry

  9. Left Ventricular Mass [ Time Frame: Study Visit 1 ]
    Cardiac end organ injury assessed by echocardiography. Left Ventricular Mass (LVM) was measured by area/length method using the apical four-chamber and parasternal short-axis views. LVM was calculated as LV area × LV length × 1.05 × 5/6.

  10. Pulse Wave Velocity [ Time Frame: Study Visit 1 ]
    Cardiac end organ injury assessed by Pulse Wave Velocity (PWV)


Secondary Outcome Measures :
  1. Health Related Quality of Life - PedsQL [ Time Frame: Study Visit 1 ]
    Caregiver-perception of his/her child's health-related QOL was assessed with the use of the parent-proxy report of the Pediatric Quality of Life Inventory (PedsQL) Version 4.0. Sub-scale scores are converted to a 0-100 scale so that greater scores indicate better QOL. Scale scores are computed as the sum of the items divided by the number of items answered (this accounts for missing data). If more than 50% of the items in the scale are missing, the scale score is not computed. The Physical Health Summary Score (8 items) is the same as the Physical Functioning Scale. To create the Psychosocial Health Summary Score (15 items), the mean is computed as the sum of the items divided by the number of items answered in the Emotional, Social, and School Functioning Scales.

  2. Health Related Quality of Life - IWQOL [ Time Frame: Study Visit 1 ]
    Parent perception of the effects of weight on his/her child's QOL was assessed with a caregiver-proxy version of the Impact of Weight on Quality of Life - Kids (IWQOL-Kids) questionnaire. The IWQOL-Kids is a validated, 27-item, self-report measure of weight-related QOL for youth ages 11-19 years. It yields 4 subscales (Physical Comfort, Body Esteem, Social Life, and Family Relations) and a Total score, which have strong psychometric properties, discriminate among weight status groups, and are responsive to weight change. Scaled scores are standardized and range from 0 to 100, with greater scores representing better weight-related QOL.


Biospecimen Retention:   Samples Without DNA
Blood serum will be retained.


Information from the National Library of Medicine

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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.
Criteria

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 ClinicalTrials.gov identifier (NCT number): NCT01821300


Locations
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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)
Investigators
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Principal Investigator: Andrea Kelly, MD, MSCE Children's Hospital of Philadelphia
  Study Documents (Full-Text)

Documents provided by Children's Hospital of Philadelphia:

Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Children's Hospital of Philadelphia
ClinicalTrials.gov 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
Results First Posted: January 9, 2019
Last Update Posted: January 31, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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

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