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Down Syndrome Metabolic Health Study

This study is currently recruiting participants.
Verified August 2017 by Children's Hospital of Philadelphia
Sponsor:
ClinicalTrials.gov Identifier:
NCT01821300
First Posted: April 1, 2013
Last Update Posted: August 10, 2017
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
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
  Purpose

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
Down Syndrome Trisomy 21

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Cardiometabolic Risk and Obesity in Adolescents With Down Syndrome

Resource links provided by NLM:


Further study details as provided by Children's Hospital of Philadelphia:

Primary Outcome Measures:
  • 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:
  • 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.

Estimated Enrollment: 250
Study Start Date: February 2013
Estimated Study Completion Date: August 2017
Estimated Primary Completion Date: August 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts
Down syndrome
Our goal is to enroll 150 subjects with Down syndrome, and to compare their data to our control group.
Control
Our goal is to enroll 100 typically developing controls, who are matched to the Down syndrome group by age, sex, race, ethnicity, and BMI-z score.

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.

  Eligibility

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)
  Contacts and Locations
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


Contacts
Contact: Divya Prasad, MPH 267-426-2778 prasadd@email.chop.edu
Contact: Amber Lauff, BS 267-426-0299 lauffa@email.chop.edu

Locations
United States, District of Columbia
Children's National Medical Center Recruiting
Washington, D.C., District of Columbia, United States, 20010
Contact: Sheela Magge, MD, MSCE    888-884-2327      
Principal Investigator: Sheela Magge, MD, MSCE         
United States, Pennsylvania
The Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Principal Investigator: Sheela N. Magge, MD, MSCE         
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
Principal Investigator: Andrea Kelly, MD, MSCE Children's Hospital of Philadelphia
  More Information

Additional 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
Last Update Posted: August 10, 2017
Last Verified: August 2017
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:
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