Williams SyndromeNCT01864304
Fat Distribution and Glucose Metabolism in Williams Syndrome
An observational study of Williams Syndrome, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and abnormal body composition. Read more about this study
- Who is it for?
- Ages 14 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Williams Syndrome
- How many people
- 24 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2013to Feb 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 14 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Children and adults with Williams Syndrome (WS), and "control" individuals without WS.
Who may be able to join
- M or F age 14-70yo
- Diagnosis of WS confirmed by FISH or chromosomal microarray (WS only)
- Availability of a parent or guardian to participate in the consent process (all WS, and controls <18yo)
Who cannot join
- History of weight loss surgery or liposuction
- Use of weight-lowering drugs
- Positive urine pregnancy test (females only)
- Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.
- Known diabetes will preclude administration of the OGTT but not participation in other aspects of the study.
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
Official title: Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and abnormal body composition. Approximately 75% of adults with WS have impaired glucose tolerance or diabetes on oral glucose tolerance testing (OGTT). In addition, clinical observations and preliminary data suggest increased overall body fat in these individuals, as well as a relative increase in fat deposition in the lower extremities. However, glucose and lipid metabolism in WS remain incompletely characterized. The purpose of the current study is to carefully describe glucose metabolism and lipid parameters in people with WS.
- Conditions
- Williams Syndrome
- Keywords
- Williams Syndrome
- Medical subject headings
- Williams Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Williams Syndrome | Children and adults with Williams Syndrome | |
| Control Group | Controls will be recruited in 2 ways: 1) a gender matched and age- and BMI-similar control for each WS patient, and, 2) sibling controls when available |
What is being measured
The primary outcome is the main question the study is designed to answer.
2-hour glucose
Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)
Measured: Baseline
Secondary outcomes (2)
Percent body fat
percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning
Measured: Baseline
Low-density lipoprotein cholesterol (LDL)
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 May 2013 (estimated)
- Study startDec 2013
- Primary completionFeb 2016
- Study completionFeb 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Williams SyndromeStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 24 participants (actual)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Takara Stanley, M.D., Massachusetts General Hospital
- Investigators
- Takara Stanley, MD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01864304
- Sponsor's protocol ID
- 2013P000068
- Status last verified
- Jan 2017
- First submitted
- 10 May 2013
- Last updated
- 10 Jan 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Jan 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome
- ClinicalTrials.gov ID
- NCT01864304
- Acronym / sponsor ID
- 2013P000068
- Conditions
- Williams Syndrome
- Keywords
- Williams Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 24 participants (actual)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Study start
- Dec 2013
- Primary completion
- Feb 2016 (actual)
- Study completion
- Feb 2016 (actual)
- First posted
- 29 May 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and abnormal body composition. Approximately 75% of adults with WS have impaired glucose tolerance or diabetes on oral glucose tolerance testing (OGTT). In addition, clinical observations and preliminary data suggest increased overall body fat in these individuals, as well as a relative increase in fat deposition in the lower extremities. However, glucose and lipid metabolism in WS remain incompletely characterized. The purpose of the current study is to carefully describe glucose metabolism and lipid parameters in people with WS.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Williams Syndrome | – | –Children and adults with Williams Syndrome |
| Control Group | – | –Controls will be recruited in 2 ways: 1) a gender matched and age- and BMI-similar control for each WS patient, and, 2) sibling controls when available |
Who may qualify
- Ages
- 14 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children and adults with Williams Syndrome (WS), and "control" individuals without WS.
Key inclusion criteria (3 listed)
- M or F age 14-70yo
- Diagnosis of WS confirmed by FISH or chromosomal microarray (WS only)
- Availability of a parent or guardian to participate in the consent process (all WS, and controls <18yo)
Key exclusion criteria (5 listed)
- History of weight loss surgery or liposuction
- Use of weight-lowering drugs
- Positive urine pregnancy test (females only)
- Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.
- Known diabetes will preclude administration of the OGTT but not participation in other aspects of the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
2-hour glucose
Time frame: Baseline
Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)
2 secondary outcomes
Percent body fat
Time frame: Baseline
Low-density lipoprotein cholesterol (LDL)
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jan 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Takara Stanley, MD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Williams Syndrome, run by Massachusetts General Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Jan 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
2-hour glucose (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Jan 2017.