Williams SyndromeSHAAPENCT03758651
Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study
An observational study of Williams Syndrome and Lipedema, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. Dr. Pober and colleagues at MGH have reported the following findings in adults with WS: abnormal body composition (excess body fat accumulation with a lipedema phenotype)… Read more about this study
- Who is it for?
- Ages 18 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Williams Syndrome, Lipedema
- How many people
- 144 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Oct 2018to 14 Sep 2023
- 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 18 to 70 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Dr. Pober and colleagues plan to include 30 individuals with Williams syndrome (WS) who participate at Massachusetts General Hospital, along with 25-30 matched control individuals, as well as 50 individuals with WS who participate at conventions related to WS, and 100 individuals with WS who participate remotely.
Who may be able to join
- Male or Female age 18-70 years old
- Diagnosis of Williams syndrome (WS), established by experienced clinician, parent report, or confirmed by genetic testing such as FISH (fluorescent in situ hybridization) or chromosomal microarray (WS only)
- Availability of a parent or guardian to review details of the study with their family member with WS and participate in the consent process (all WS regardless of age)
- Availability of a parent or guardian to provide selected medical information (WS only)
Who cannot join
- History of weight loss surgery or liposuction
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
Official title: Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study]
Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. Dr. Pober and colleagues at MGH have reported the following findings in adults with WS: abnormal body composition (excess body fat accumulation with a lipedema phenotype), decreased bone mineral density, abnormal glucose tolerance, and reduced lean mass. Despite the high prevalence and potential effect of metabolic abnormalities on the health of persons with WS, their full phenotypic range, potential causal factors (either genetic and/or hormonal) along with their impact on other aspects of health (such as risk of falls and fractures or interaction with emotional behavioral concerns) remain incompletely characterized. The purpose of the current study in a large cohort of subjects with WS is to: collect further information to characterize the timing of onset and distribution of body fat; better characterize hormonal status of WS subjects; and screen for genetic variation using single-nucleotide-polymorphism (SNP) analysis that could elucidate genetic contributors to the lipedema phenotype as well as the other observed metabolic and bone abnormalities.
- Conditions
- Williams Syndrome, Lipedema
- Keywords
- Williams Syndrome, Lipedema, Body Composition, Glucose, Bone Density
- Medical subject headings
- Williams Syndrome, Lipedema
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 - Onsite participation | Individuals with Williams syndrome who will participate in the study at Massachusetts General Hospital (MGH) | |
| Williams syndrome - Convention participation | Individuals with Williams syndrome (WS) who will have a more limited evaluation at a convention focusing on WS, such as the WS Association convention. | |
| Williams syndrome - Remote participation | Individuals with Williams syndrome (WS) who will participate in the study remotely by filling out a questionnaire and providing information by mail. | |
| Healthy Controls | Healthy individuals without Williams syndrome who will participate in the study at the Massachusetts General Hospital |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bone Mineral Density - Lumbar Spine
Measured: baseline only
Whole Body DEXA (dual energy x-ray absorptiometry) scan
To assess body proportions of fat, bone, and muscle
Measured: baseline only
Secondary outcomes (5)
Bone Mineral Density - Hip
Measured: baseline only
Resting energy expenditure
Measured: baseline only
Serum Total Testosterone
Measured: baseline only
Serum Estrogen
Measured: baseline only
Fasting blood sugar and Oral glucose tolerance test (OGTT)
Measured: baseline only
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2018
- Study start1 Oct 2018
- Primary completion30 Nov 2022
- Study completion14 Sep 2023
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
- 144 participants (actual)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Williams Syndrome Association
- Responsible party
- Principal investigator, Barbara R. Pober, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03758651
- Sponsor's protocol ID
- 2018P000633
- Acronym
- SHAAPE
- Status last verified
- Oct 2023
- First submitted
- 26 Nov 2018
- Last updated
- 19 Oct 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: A limited and de-identified dataset may be available to other researchers at the conclusion of the study.
Study at a glance
From the registry record, last updated by the sponsor on 19 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study]
- ClinicalTrials.gov ID
- NCT03758651
- Acronym / sponsor ID
- SHAAPE / 2018P000633
- Conditions
- Williams Syndrome, Lipedema
- Keywords
- Williams Syndrome, Lipedema, Body Composition, Glucose, Bone Density
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 144 participants (actual)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Collaborators
- Williams Syndrome Association
- Study start
- 1 Oct 2018 (actual)
- Primary completion
- 30 Nov 2022 (actual)
- Study completion
- 14 Sep 2023 (actual)
- First posted
- 29 Nov 2018 (actual)
- 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 rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. Dr. Pober and colleagues at MGH have reported the following findings in adults with WS: abnormal body composition (excess body fat accumulation with a lipedema phenotype), decreased bone mineral density, abnormal glucose tolerance, and reduced lean mass. Despite the high prevalence and potential effect of metabolic abnormalities on the health of persons with WS, their full phenotypic range, potential causal factors (either genetic and/or hormonal) along with their impact on other aspects of health (such as risk of falls and fractures or interaction with emotional behavioral concerns) remain incompletely characterized. The purpose of the current study in a large cohort of subjects with WS is to: collect further information to characterize the timing of onset and distribution of body fat; better characterize hormonal status of WS subjects; and screen for genetic variation using single-nucleotide-polymorphism (SNP) analysis that could elucidate genetic contributors to the lipedema phenotype as well as the other observed metabolic and bone abnormalities.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Williams syndrome - Onsite participation | – | –Individuals with Williams syndrome who will participate in the study at Massachusetts General Hospital (MGH) |
| Williams syndrome - Convention participation | – | –Individuals with Williams syndrome (WS) who will have a more limited evaluation at a convention focusing on WS, such as the WS Association convention. |
| Williams syndrome - Remote participation | – | –Individuals with Williams syndrome (WS) who will participate in the study remotely by filling out a questionnaire and providing information by mail. |
| Healthy Controls | – | –Healthy individuals without Williams syndrome who will participate in the study at the Massachusetts General Hospital |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Dr. Pober and colleagues plan to include 30 individuals with Williams syndrome (WS) who participate at Massachusetts General Hospital, along with 25-30 matched control individuals, as well as 50 individuals with WS who participate at conventions related to WS, and 100 individuals with WS who participate remotely.
Key inclusion criteria (4 listed)
- Male or Female age 18-70 years old
- Diagnosis of Williams syndrome (WS), established by experienced clinician, parent report, or confirmed by genetic testing such as FISH (fluorescent in situ hybridization) or chromosomal microarray (WS only)
- Availability of a parent or guardian to review details of the study with their family member with WS and participate in the consent process (all WS regardless of age)
- Availability of a parent or guardian to provide selected medical information (WS only)
Key exclusion criteria (3 listed)
- History of weight loss surgery or liposuction
- 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.
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
Bone Mineral Density - Lumbar Spine
Time frame: baseline only
Whole Body DEXA (dual energy x-ray absorptiometry) scan
Time frame: baseline only
To assess body proportions of fat, bone, and muscle
5 secondary outcomes
Bone Mineral Density - Hip
Time frame: baseline only
Resting energy expenditure
Time frame: baseline only
Serum Total Testosterone
Time frame: baseline only
Serum Estrogen
Time frame: baseline only
Fasting blood sugar and Oral glucose tolerance test (OGTT)
Time frame: baseline only
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 19 Oct 2023.
- Individual participant dataSharing planned: Yes. A limited and de-identified dataset may be available to other researchers at the conclusion of the study.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 and Lipedema, 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 4 inclusion and 3 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 19 Oct 2023. 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?
Bone Mineral Density - Lumbar Spine (time frame: baseline only). The study lists 2 primary outcomes in all. 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 19 Oct 2023.