Ultrasound to Assess Sarcopenia in Prader Willi Syndrome (PWS)

Buddhist Tzu Chi Medical Foundation

Status: Completed

Conditions: Prader-Willi Syndrome; Sarcopenia; Metabolic Syndrome

Treatments: Diagnostic Test: Ultrasound assessment of the right lower extremity muscles; Diagnostic Test: Dual-energy X-ray absorptiometry (DXA) scan

Study type: Observational

Funder types: Other

Identifiers

NCT06448871

TCRD-TPE-112-28

Details and patient eligibility

About

The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived measurements, and sarcopenia-related outcomes.

Full description

Sarcopenia is an age-related loss of muscle mass plus low muscle strength, and/or low physical performance, that may affect over 25% of individuals over the age of 60, resulting in an increased likelihood of developing disability. Abnormal body composition with an increased in body fat mass and a decreased in skeletal muscle mass were noted in individuals with Prader Willi syndrome (PWS), thought to be related to hormonal deficiencies due to hypothalamic dysfunction, presenting as a unique congenital model of sarcopenia.

Muscle mass can be measured by dual-energy X-ray absorptiometry (DXA) scan device, but it is expensive, increased radiation exposure, and not easily accessible in all clinical practice. Ultrasound (USD) is a non-invasive, without ionising radiation, low-cost, and easily accessible tool for the assessment of soft tissue. There were increasing evidence for the use of USD in the measurement of muscle thickness (MT), cross-sectional area (CSA) and pennate anle (PA) of different muscle groups in different populations. However, the use of USD as a routine diagnostic tool in individuals with PWS has not been reported yet.

The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived measurements, and sarcopenia-related outcomes.

Enrollment: 49 patients

Sex: All

Ages: 7 to 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Genetically diagnosed individuals with PWS who can cooperate with the examinations

Exclusion criteria

• Individuals with PWS who have arthritis, fractures, or severe musculoskeletal deformities that could interfere with the examinations.
• Individuals with PWS who have severe cognitive impairment and are unable to read or sign the written consent.

Trial design

49 participants in 1 patient group

group 1, pws group

Description:

Individuals with PWS, aged 7 to 65 years, and able to follow simple instructions in chinese language.

Treatment:

Diagnostic Test: Dual-energy X-ray absorptiometry (DXA) scan

Diagnostic Test: Ultrasound assessment of the right lower extremity muscles