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Down Syndrome Metabolic Health Study

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ClinicalTrials.gov Identifier: NCT01821300
Recruitment Status : Completed
First Posted : April 1, 2013
Results First Posted : January 9, 2019
Last Update Posted : July 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

Study Type Observational
Study Design Observational Model: Case-Control;   Time Perspective: Cross-Sectional
Conditions Down Syndrome
Trisomy 21
Enrollment 257
Recruitment Details  
Pre-assignment Details  
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description

154 participants ages 10-20 years old.

No intervention occurred as this is a cross-sectional observational study.

103 age-, sex-, race-, ethnicity-, and BMI percentile-matched control subjects.

No intervention occurred as this is a cross-sectional observational study.

Period Title: Overall Study
Started 154 103
Completed 154 103
Not Completed 0 0
Arm/Group Title Down Syndrome Control Total
Hide Arm/Group Description 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. Total of all reporting groups
Overall Number of Baseline Participants 154 103 257
Hide Baseline Analysis Population Description
Participants from the Down syndrome and control groups were matched on BMI percentile, age, race, ethnicity, and sex.
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 154 participants 103 participants 257 participants
14.4  (0.3) 14.7  (0.3) 14.7  (0.2)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 154 participants 103 participants 257 participants
Female
87
  56.5%
61
  59.2%
148
  57.6%
Male
67
  43.5%
42
  40.8%
109
  42.4%
Ethnicity (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 154 participants 103 participants 257 participants
Hispanic or Latino
13
   8.4%
6
   5.8%
19
   7.4%
Not Hispanic or Latino
141
  91.6%
97
  94.2%
238
  92.6%
Unknown or Not Reported
0
   0.0%
0
   0.0%
0
   0.0%
Race (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 154 participants 103 participants 257 participants
American Indian or Alaska Native
0
   0.0%
0
   0.0%
0
   0.0%
Asian
3
   1.9%
0
   0.0%
3
   1.2%
Native Hawaiian or Other Pacific Islander
0
   0.0%
0
   0.0%
0
   0.0%
Black or African American
30
  19.5%
24
  23.3%
54
  21.0%
White
117
  76.0%
74
  71.8%
191
  74.3%
More than one race
1
   0.6%
1
   1.0%
2
   0.8%
Unknown or Not Reported
3
   1.9%
4
   3.9%
7
   2.7%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 154 participants 103 participants 257 participants
154 103 257
BMI Percentile   [1] 
Mean (Standard Deviation)
Unit of measure:  Percentile
Number Analyzed 154 participants 103 participants 257 participants
81.4  (1.8) 79.3  (2.5) 80.5  (1.4)
[1]
Measure Description: Height & weight were measured and entered into the online CDC BMI Calculator for children and teens to determine percentile.
1.Primary Outcome
Title Non-HDL Cholesterol
Hide Description Non-HDL cholesterol measured via fasting blood draw
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
Participants excluded from lipid analysis if they failed to complete blood draw or were diagnosed with Type 1 Diabetes: DS=7, Controls=0
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 147 103
Median (Inter-Quartile Range)
Unit of Measure: mg/dl
128
(104 to 153)
107
(92 to 123)
2.Primary Outcome
Title Lipid Subparticles
Hide Description Lipoprotein subclass particle analysis run on samples from fasting blood drawn Study Visit 1.
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
Participants excluded from lipid analysis if they failed to complete blood draw or were diagnosed with Type 1 Diabetes: DS=7, Controls=0.
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 147 103
Median (Inter-Quartile Range)
Unit of Measure: nmol/L
Small HDL-P (nmol/L)
9.8
(5.3 to 14)
11.7
(8.9 to 14.9)
Large VLDL-P (nmol/L)
3.9
(2.3 to 5.7)
2.4
(1.5 to 4.1)
Small LDL-P (nmol/L)
518
(401 to 639)
420
(315 to 529)
Total LDL-P (nmol/L)
977
(806 to 1193)
850
(693 to 997)
3.Primary Outcome
Title Lipid Subparticles (Size)
Hide Description Lipoprotein subclass particle analysis run on samples from fasting blood drawn Study Visit 1.
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
Participants excluded from lipid analysis if they failed to complete blood draw or were diagnosed with Type 1 Diabetes: DS=7, Controls=0.
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 147 103
Median (Inter-Quartile Range)
Unit of Measure: nm
HDL-P size (nm)
9.6
(9.2 to 9.9)
9.6
(9.1 to 9.9)
VLDL-P size (nm)
49.2
(45.8 to 53.6)
47.1
(44.2 to 50.7)
LDL-P size (nm)
20.7
(20.3 to 21.2)
20.7
(20.2 to 21.1)
4.Primary Outcome
Title Insulin Resistance
Hide Description Insulin Resistance (HOMA-IR) was calculated as [fasting insulin (uIU/mL) x fasting glycemia (mmol/L)]/22.5
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
Participants excluded from insulin resistance analysis if they failed to complete blood draw or were diagnosed with Type 1 Diabetes: DS=147, Controls=103.
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 147 103
Median (Inter-Quartile Range)
Unit of Measure: HOMA-IR
1.8
(1.0 to 2.7)
1.95
(0.92 to 3.4)
5.Primary Outcome
Title Cardiometabolic Risk Biomarker Proteins
Hide Description hs-CRP, PAI-1, and IL-6 run on samples from fasting blood drawn Study Visit 1.
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
Participants excluded from analysis if they failed to complete blood draw or were diagnosed with Type 1 Diabetes: DS=7, Controls=0.
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 147 103
Median (Inter-Quartile Range)
Unit of Measure: ng/dL
IL-6
2.3
(1.4 to 3.5)
1.5
(1.4 to 2.9)
PAI-1
0.0204
(0.0132 to 0.0327)
0.0254
(0.0147 to 0.0385)
hs-CRP
2.5
(0.64 to 6.9)
1.0
(0.32 to 4.5)
6.Primary Outcome
Title Abnormal Glucose Tolerance
Hide Description 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.
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
Participants completed an oral glucose tolerance test if they were in the overweight or obese categories: DS n=96, Control n=64.
Arm/Group Title Down Syndrome (Overweight & Obese Only) Control (Overweight Obese Only)
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 96 64
Measure Type: Count of Participants
Unit of Measure: Participants
Impaired Fasting Glucose
12
  12.5%
3
   4.7%
Abnormal Glucose Tolerance
10
  10.4%
3
   4.7%
7.Primary Outcome
Title Visceral Fat
Hide Description Adiposity measured by Dual-energy X-ray absorptiometry
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 154 103
Median (Inter-Quartile Range)
Unit of Measure: cm^2
54.5
(39.9 to 81.9)
55.9
(40.6 to 95.3)
8.Primary Outcome
Title Body Mass Measures
Hide Description Adiposity measured by Dual-energy X-ray absorptiometry
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 154 103
Median (Inter-Quartile Range)
Unit of Measure: g
Whole Body Fat Mass
18607.5
(12034.8 to 27557.7)
22372.1
(16143 to 39723.8)
Whole Body Lean Mass
34927.16
(27527.39 to 42383.86)
44108.3
(32439.9 to 52181.3)
9.Primary Outcome
Title Left Ventricular Mass
Hide Description 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.
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
LVM was available in 136 adolescents with DS (60M/76F) and 101nonDS controls (41M/60F).
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 136 101
Median (Inter-Quartile Range)
Unit of Measure: g
68.3
(32.1 to 135)
64
(53 to 77)
10.Primary Outcome
Title Pulse Wave Velocity
Hide Description Cardiac end organ injury assessed by Pulse Wave Velocity (PWV)
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
PWV was available in 129 adolescents with DS and 97 controls
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description:
Down syndrome participants in observational study.
Control participants in observational study.
Overall Number of Participants Analyzed 129 97
Median (Inter-Quartile Range)
Unit of Measure: m/s
5
(4.5 to 5.6)
4.9
(4.5 to 5.5)
11.Secondary Outcome
Title Health Related Quality of Life - PedsQL
Hide Description 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.
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Down Syndrome, Obese Down Syndrome, Not Obese Control, Obese Control, Not Obese
Hide Arm/Group Description:
For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

Our goal is to enroll 155 subjects with Down syndrome, and to compare their data to our control group.

For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

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.

For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

Overall Number of Participants Analyzed 63 87 24 34
Mean (Standard Deviation)
Unit of Measure: score on a scale
Physical Functioning (PedsQL) 68.3  (18.5) 73.2  (21.4) 78.9  (18.8) 89.7  (19.7)
Emotional (PedsQL) 73.3  (76.0) 76.0  (14.9) 75.6  (19.5) 77.2  (25.1)
Social (PedsQL) 60.7  (20.9) 63.3  (19.2) 80.4  (16.4) 85.0  (22.3)
School (PedsQL) 65.1  (18.2) 64.0  (17.2) 75.6  (18.5) 80.0  (24.0)
Psychosocial (PedsQL) 65.1  (14.3) 67.8  (13.8) 77.2  (15.4) 80.7  (22.4)
Total Score (PedsQL) 66.2  (13.2) 69.6  (14.2) 77.8  (14.0) 83.9  (21.0)
12.Secondary Outcome
Title Health Related Quality of Life - IWQOL
Hide Description 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.
Time Frame Study Visit 1
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Down Syndrome, Obese Down Syndrome, Not Obese Control, Obese Control, Not Obese
Hide Arm/Group Description:
For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

Our goal is to enroll 155 subjects with Down syndrome, and to compare their data to our control group.

For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

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.

For the Psychosocial risk factors secondary analysis Down Syndrome and Control Groups were further divided into Obese and Not Obese sub groups for analysis.

Overall Number of Participants Analyzed 63 87 24 34
Mean (Standard Deviation)
Unit of Measure: score on a scale
Physical Comfort (IWQOL-Kids) 83.3  (18.6) 97.1  (7.5) 86.0  (16.6) 98.2  (7.9)
Body Esteem (IWQOL-Kids) 91.4  (11.1) 98.0  (5.4) 73.9  (25.7) 93.9  (12.8)
Social Life (IWQOL-Kids) 89.7  (17.6) 98.4  (5.9) 80.7  (21.0) 95.0  (14.0)
Family Relationships (IWQOL-Kids) 93.8  (13.5) 98.6  (5.3) 93.2  (11.2) 97.5  (8.9)
Total (IWQOL-Kids) 89.8  (11.7) 98.0  (5.1) 82.4  (16.7) 95.9  (10.5)
Time Frame Adverse Events are monitored throughout participants' roughly 6 hour study visit, and for the 2 weeks following study visit while participants are wearing accelerator armbands and completing dietary recalls at home.
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Down Syndrome Control
Hide Arm/Group Description 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.
All-Cause Mortality
Down Syndrome Control
Affected / at Risk (%) Affected / at Risk (%)
Total   0/154 (0.00%)      0/103 (0.00%)    
Show Serious Adverse Events Hide Serious Adverse Events
Down Syndrome Control
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   0/154 (0.00%)      0/103 (0.00%)    
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Down Syndrome Control
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   7/154 (4.55%)      3/103 (2.91%)    
Endocrine disorders     
Hypoglycemia * [1]  1/154 (0.65%)  1 0/103 (0.00%)  0
Gastrointestinal disorders     
Vomiting * [2]  1/154 (0.65%)  1 0/103 (0.00%)  0
General disorders     
Fainting * [3]  0/154 (0.00%)  0 1/103 (0.97%)  1
Skin and subcutaneous tissue disorders     
Skin irritation * [4]  5/154 (3.25%)  5 2/103 (1.94%)  2
*
Indicates events were collected by non-systematic assessment
[1]
Hypoglycemia occurring during oral glucose tolerance test. Test prematurely stopped so that participant could ingest food.
[2]
Vomiting in reaction to glucola ingestion associated with oral glucose tolerance test.
[3]
Fainting in reaction to blood draw.
[4]
Skin irritation due to physical activity armband wear. If irritation occurred armband wear was discontinued.
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Dr. Andrea Kelly
Organization: The Children's Hopsital of Philadelphia
Phone: 215590-3174
EMail: kellya@email.chop.edu
Layout table for additonal information
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 Submitted: March 27, 2013
First Posted: April 1, 2013
Results First Submitted: October 31, 2018
Results First Posted: January 9, 2019
Last Update Posted: July 31, 2019