Ultrasound to Assess Sarcopenia in Prader Willi Syndrome

Completed

• Conditions: Prader-Willi Syndrome; Sarcopenia; Metabolic Syndrome
• Interventions: Diagnostic Test: Ultrasound assessment of the right lower extremity muscles; Diagnostic Test: Dual-energy X-ray absorptiometry (DXA) scan

• Registration Number: NCT06448871
• Lead Sponsor: Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation

Brief Summary

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.

Detailed 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.

Study Timeline

• Study Start: 2022-10-17
• Study First Submitted: 2024-05-02
• Study First Submitted QC: 2024-06-03
• Study First Posted: 2024-06-07
• Primary Completion: 2024-06-30
• Study Completion: 2024-06-30
• Status Verified: 2024-09
• Last Update Submitted: 2024-10-08
• Last Update Posted: 2024-10-09

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 49

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
group 1, pws group	Dual-energy X-ray absorptiometry (DXA) scan	Individuals with PWS, aged 7 to 65 years, and able to follow simple instructions in chinese language.
group 1, pws group	Ultrasound assessment of the right lower extremity muscles	Individuals with PWS, aged 7 to 65 years, and able to follow simple instructions in chinese language.

Primary Outcome Measures

Name	Time	Method
DXA: skeletal muscle (SM)	1 day	Lean index of skeletal muscle (SM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA
DXA: body fat mass (BFM)	1 day	Adipose index of body fat mass (BFM) using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA.
DXA: appendicular skeletal muscle mass index (ASMI)	1 day	Lean index of appendicular skeletal muscle mass index (ASMI) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA
DXA: fat mass index (FMI)	1 day	Adipose index of fat mass index using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA.
Muscle thickness ultrasound	1 day	Ultrasound scanning of the muscle thickness of rectus femoris (RF), vastus lateralis (VL), and gastrocnemius medialis (GM) using B-mode ultrasonography (LOGIQ S8, GE Healthcare, USA) and a 7-15 MHz linear array transducer.
Pennation angle ultrasound	1 day	Ultrasound scanning of the pennation angles of vastus lateralis (VL) and gastrocnemius medialis (GM) using B-mode ultrasonography (LOGIQ S8, GE Healthcare, USA) and a 7-15 MHz linear array transducer.
DXA: total lean body mass	1 day	Lean index of total lean body mass (LBM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA
DXA: percentage fat mass	1 day	Adipose index of percentage fat mass using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA.
Cross-sectional area ultrasound	1 day	Ultrasound scanning of the cross sectional area of rectus femoris (RF) using B-mode ultrasonography (LOGIQ S8, GE Healthcare, USA) and a 7-15 MHz linear array transducer.

Secondary Outcome Measures

Name	Time	Method
Handgrip and lateral pinch strength	1 day	Grip strength and lateral pinch will be assessed bilaterally using an isometric Baseline hydraulic hand dynamometer and pinch gauge.
Physical performance test: five-time chair stand test	1 day	In the 5-time chair stand test participants perform five sit-to-stand movements as quickly as possible
Physical performance test: SPPB	1 day	The short physical performance battery (SPPB) will be used, which measures balance, walking speed, strength, and endurance in the lower limbs, and is scored from zero to 12 (worst to best score).
Physical performance test: gait speed	1 day	In the gait speed test participants walk over a 4-meter distance at their normal pace.

Trial Locations

Locations (1)

Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation; 🇨🇳 New Taipei City, Taiwan