Ultrasonographic Muscle Assessment and Functional Scales in Spinal Muscular Atrophy

September 22, 2024 updated by: Eren Aygun, Istanbul University - Cerrahpasa (IUC)

Investigation of the Relationship Between Ultrasonographic Muscle Thickness Measurement and Echogenicity Assessment with Functional Scales in Patients with Spinal Muscular Atrophy: an Observational, Cross-Sectional, Case-Control Study

This study aims to investigate the relationship between ultrasonographic muscle thickness measurement and echogenicity assessment with functional scales in children with spinal muscular atrophy (SMA). By utilizing ultrasonographic techniques, the study seeks to provide objective biomarkers for assessing muscle health and monitoring treatment response. Currently, the evaluation of SMA often relies on subjective clinical assessments; this study addresses that gap by offering more precise and objective indicators of disease progression and functional status. The ultimate goal is to improve treatment strategies and enhance patient outcomes through better assessment tools.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Detailed Description

Spinal muscular atrophy (SMA) is a neuromuscular disorder that typically leads to progressive lower motor neuron loss from early childhood. The most common form is caused by deletions in the survival motor neuron 1 (SMN1) gene, inherited in an autosomal recessive manner. SMA is classified into at least three subtypes based on the age of onset and the level of motor development achieved. In Type 1 SMA (severe form), symptoms usually appear before 6 months of age, and children are unable to sit unsupported. In Type 2 SMA (intermediate form), symptoms start between 6 and 18 months, and children cannot walk unsupported. Type 3 SMA (mild form) presents after the second year of life, and affected children can walk unsupported. Although the exact prevalence and carrier rates of SMA in our country are not fully determined, it is estimated that there are between 130 and 180 new cases annually, given approximately 1,200,000 live births each year. The total number of SMA patients in the country is about 3,000.

Despite current treatments, muscle weakness and significant functional loss affecting quality of life are commonly observed in SMA patients. At present, the efficacy of SMA treatment is measured through clinical assessment, including monitoring of changes in motor developmental milestones and functional scales. However, the lack of objective biomarkers that are less reliant on patient cooperation, as opposed to functional scales, complicates monitoring treatment response for patients. Establishing reliable methods to assess disease progression and treatment response is crucial for conducting robust clinical studies.

Musculoskeletal ultrasonography presents itself as a suitable imaging modality for use as a biomarker in SMA management due to its non-invasiveness, repeatability, absence of radiation, ability to evaluate multiple muscles quickly, and ease of application. Furthermore, the feasibility of performing ultrasonographic examinations at the bedside facilitates access to a larger number of patients, especially those with limited mobility or requiring respiratory support. Previous literature has reported the advantages of muscle ultrasonography in evaluating neuromuscular disorders, including SMA.

In conclusion, this study, which will investigate the relationship between ultrasonographic muscle thickness measurement and echogenicity evaluation and functional scales in patients diagnosed with SMA for the first time in our country, will guide physicians and researchers seeking to assess disease progression, determine treatment efficacy, and develop rehabilitation strategies.

Study Type

Observational

Enrollment (Estimated)

34

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Turkey
      • Istanbul, Turkey, 34098
        • Istanbul University - Cerrahpasa (IUC)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients diagnosed with spinal muscular atrophy (SMA) who are being followed at the Department of Pediatric Neurology and the Department of Physical Medicine and Rehabilitation at Cerrahpaşa Medical Faculty

Description

Inclusion Criteria:

  • Age between 0-18 years
  • Confirmed diagnosis of SMA through genetic testing
  • Having received four loading doses of nusinersen
  • Written consent provided for participation in the study

Exclusion Criteria:

  • History of surgical operation or trauma in the muscles to be examined
  • Presence of spasticity that complicates positioning of the extremities and hinders ultrasound imaging

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Case
Patients diagnosed with spinal muscular atrophy (SMA) who have received at least four loading doses of nusinersen
Diagnostic test: Ultrasonographic Assessment
A researcher will perform all ultrasonographic measurements using the ESAOTE My Lab 70 model ultrasound device with a 4-13 MHz linear probe. System settings will be kept constant throughout each study, and all images will be obtained using this single ultrasound device. Only the depth will be adjusted to optimally assess the relevant muscle. The muscle thickness measurement protocol with ultrasound includes four muscles on the dominant side of each child: two proximal upper and lower extremity muscles (biceps brachii/brachialis and quadriceps) and two distal upper and lower extremity muscles (forearm flexors and tibialis anterior). In the assessment of muscle echogenicity, images will be transferred to ImageJ software to calculate luminance ratios (LR).
Control
Healthy, age- and sex-matched control individuals
Diagnostic test: Ultrasonographic Assessment
A researcher will perform all ultrasonographic measurements using the ESAOTE My Lab 70 model ultrasound device with a 4-13 MHz linear probe. System settings will be kept constant throughout each study, and all images will be obtained using this single ultrasound device. Only the depth will be adjusted to optimally assess the relevant muscle. The muscle thickness measurement protocol with ultrasound includes four muscles on the dominant side of each child: two proximal upper and lower extremity muscles (biceps brachii/brachialis and quadriceps) and two distal upper and lower extremity muscles (forearm flexors and tibialis anterior). In the assessment of muscle echogenicity, images will be transferred to ImageJ software to calculate luminance ratios (LR).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Muscle Thickness Measurement
Time Frame: Baseline
Muscle thickness in specific muscle groups will be assessed using ultrasonography. Measurements will include biceps brachii/brachialis, quadriceps, forearm flexors, and tibialis anterior. Thickness will be measured at predetermined anatomical sites using electronic calipers.
Baseline
Muscle Echogenicity Assessment
Time Frame: Baseline
Muscle echogenicity will be assessed by calculating luminance ratios (LR) from ultrasonographic images. Luminance ratios will be calculated for the target muscle groups (biceps brachii/brachialis, quadriceps, forearm flexors, tibialis anterior, triceps, proximal hamstrings, gastrosoleus) and compared to subcutaneous tissue. This will involve measuring and analyzing images using ImageJ software.
Baseline

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
CHOP-INTEND
Time Frame: Baseline
CHOP-INTEND (Childrens Hospital of Philadelphia Infant Test of Neuromuscular Disorders) is a clinical scale designed to assess the motor function of infants with type 1 SMA or other types of SMA who cannot sit unsupported. This scale comprises 16 items that focus on evaluating the infant's movements, posture, and reflexes.
Baseline
HFMSE
Time Frame: Baseline
HFMSE (Hammersmith Functional Motor Scale-Expanded) is a scale used to assess motor skills in patients with type 2 and type 3 SMA who can sit unsupported. It consists of 33 items that score various movements, including sitting, rolling in a prone position, lifting the head in a prone position, rising, kneeling, standing, walking, jumping, and climbing stairs.
Baseline
RULM
Time Frame: Baseline
RULM (Revised Upper Limb Module) is a scale designed to assess functional abilities in the upper extremities of SMA patients. The scale includes an entry item to determine functional levels and consists of 19 items covering both distal and proximal movements.
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Istanbul University - Cerrahpasa (IUC)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2024

Primary Completion (Estimated)

February 1, 2025

Study Completion (Estimated)

May 1, 2025

Study Registration Dates

First Submitted

September 12, 2024

First Submitted That Met QC Criteria

September 12, 2024

First Posted (Actual)

September 19, 2024

Study Record Updates

Last Update Posted (Actual)

September 24, 2024

Last Update Submitted That Met QC Criteria

September 22, 2024

Last Verified

September 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IstanbulUC-EAygun-01

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

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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