Clinical trial NCT03758651: Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study
Official title: Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study]
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Williams Syndrome
Lipedema
Keywords: Williams Syndrome
Lipedema
Body Composition
Glucose
Bone Density
Lead sponsor: Massachusetts General Hospital
Sponsor class: OTHER
Collaborators: name: Williams Syndrome Association
First posted: 2018-11-29
Enrollment: 144
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
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.

Brief 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), 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.


Eligibility criteria: For those participating in-person at Massachusetts General Hospital:

Inclusion Criteria

1. Male or Female age 18-70 years old
2. 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)
3. 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)
4. Availability of a parent or guardian to provide selected medical information (WS only)

Exclusion Criteria

1. History of weight loss surgery or liposuction
2. Positive urine pregnancy test (females only)
3. Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.

Primary outcomes:
measure: Bone Mineral Density - Lumbar Spine
timeFrame: baseline only
measure: Whole Body DEXA (dual energy x-ray absorptiometry) scan
timeFrame: baseline only
Secondary outcomes:
measure: Bone Mineral Density - Hip
timeFrame: baseline only
measure: Resting energy expenditure
timeFrame: baseline only
measure: Serum Total Testosterone
timeFrame: baseline only
measure: Serum Estrogen
timeFrame: baseline only
measure: Fasting blood sugar and Oral glucose tolerance test (OGTT)
timeFrame: baseline only
Other outcomes:
Locations:
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
Study officials:
References: