Ultrasound to Assess Sarcopenia in Prader Willi Syndrome (PWS)

Usefulness of Ultrasound to Assess Sarcopenia in Individuals With Prader Willi Syndrome

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 Overview

• Status: Completed
• Conditions: Metabolic Syndrome; Sarcopenia; Prader-Willi Syndrome
• Intervention / Treatment: Diagnostic test: Ultrasound assessment of the right lower extremity muscles; Diagnostic test: Dual-energy X-ray absorptiometry (DXA) scan

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 Type: Observational
• Enrollment (Actual): 49

Contacts and Locations

Study Locations

• Taiwan
  • New Taipei City, Taiwan, 231
    • Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All individuals with genetically confirmed PWS will be recruited from one of the Northern hospital outpatient center in Taiwan in the given time period.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

group 1, pws group; Individuals with PWS, aged 7 to 65 years, and able to follow simple instructions in chinese language.

Diagnostic test: Ultrasound assessment of the right lower extremity muscles; Rectus femoris cross sectional area (RFCSA), RF muscle thickness, vastus lateralis (VL) muscle thickness, Gastrocnemius medialis (GM) muscle thickness, VL pennation angle (PA), and GM PA.; Diagnostic test: Dual-energy X-ray absorptiometry (DXA) scan; skeletal muscle mass (SM), appendicular skeletal muscle mass index (ASMI), total lean body mass (LBM), total fat mass (BF), percentage fat mass, and fat mass index (FMI).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Muscle thickness ultrasound	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.	1 day
Cross-sectional area ultrasound	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.	1 day
Pennation angle ultrasound	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.	1 day
DXA: total lean body mass	Lean index of total lean body mass (LBM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA	1 day
DXA: skeletal muscle (SM)	Lean index of skeletal muscle (SM) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA	1 day
DXA: appendicular skeletal muscle mass index (ASMI)	Lean index of appendicular skeletal muscle mass index (ASMI) with Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA	1 day
DXA: fat mass index (FMI)	Adipose index of fat mass index using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA.	1 day
DXA: body fat mass (BFM)	Adipose index of body fat mass (BFM) using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA.	1 day
DXA: percentage fat mass	Adipose index of percentage fat mass using Hologic QDR-4500A, Hologic, Inc., Waltham, MA, USA.	1 day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Handgrip and lateral pinch strength	Grip strength and lateral pinch will be assessed bilaterally using an isometric Baseline hydraulic hand dynamometer and pinch gauge.	1 day
Physical performance test: SPPB	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).	1 day
Physical performance test: gait speed	In the gait speed test participants walk over a 4-meter distance at their normal pace.	1 day
Physical performance test: five-time chair stand test	In the 5-time chair stand test participants perform five sit-to-stand movements as quickly as possible	1 day

Collaborators and Investigators

• Sponsor: Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
• Investigators: Principal Investigator: Valeria Chiu, MD, Taichung Tzu Chi Hospital

Study record dates

Study Major Dates

• Study Start (Actual): October 17, 2022
• Primary Completion (Actual): June 30, 2024
• Study Completion (Actual): June 30, 2024

Study Registration Dates

• First Submitted: May 2, 2024
• First Submitted That Met QC Criteria: June 3, 2024
• First Posted (Actual): June 7, 2024

Study Record Updates

• Last Update Posted (Estimated): October 9, 2024
• Last Update Submitted That Met QC Criteria: October 8, 2024
• Last Verified: September 1, 2024

More Information

Terms related to this study

• Keywords: Ultrasound; body composition; Sarcopenia; Prader-Willi Syndrome; skeletal muscle
• Additional Relevant MeSH Terms: Pathologic Processes; Glucose Metabolism Disorders; Metabolic Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Overnutrition; Nutrition Disorders; Overweight; Genetic Diseases, Inborn; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Insulin Resistance; Hyperinsulinism; Intellectual Disability; Muscular Atrophy; Atrophy; Abnormalities, Multiple; Chromosome Disorders; Obesity; Imprinting Disorders; Syndrome; Metabolic Syndrome; Sarcopenia; Prader-Willi Syndrome
• Other Study ID Numbers: TCRD-TPE-112-28

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No