Ultrasonographic Muscle Assessment and Functional Scales in Spinal Muscular Atrophy

NCT06599606 | Active Not Recruiting

• 1 other identifier: IstanbulUC-EAygun-01
• Study Type: observational
• Target: 34
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Spinal Muscular Atrophy (SMA); Neuromuscular Disease

Keywords

Spinal Muscular Atrophy (SMA); Muscle Ultrasonography; Muscle Thickness; Functional Scales; Disease Progression; Objective Biomarkers

Outcome Measures

Primary Outcomes (2)

• Muscle Thickness Measurement

  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

  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 Outcomes (3)

• CHOP-INTEND

  Baseline

• HFMSE

  Baseline

• RULM

  Baseline

Study Arms (2)

Case

Patients diagnosed with spinal muscular atrophy (SMA) who have received at least four loading doses of nusinersen

Diagnostic Test: Ultrasonographic Assessment

Control

Healthy, age- and sex-matched control individuals

Diagnostic Test: Ultrasonographic Assessment

Interventions

Ultrasonographic Assessment DIAGNOSTIC_TEST

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).

Case; Control

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Istanbul University - Cerrahpasa: lead

Study Sites (1)

Istanbul University - Cerrahpasa (IUC)

Istanbul, 34098, Turkey (Türkiye)

Location

Related Publications (15)

• Hodgkinson VL, Oskoui M, Lounsberry J, M'Dahoma S, Butler E, Campbell C, MacKenzie A, McMillan HJ, Simard L, Vajsar J, Brais B, Chapman KM, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupre N, Genge A, Gonorazky H, Hasal S, Izenberg A, Johnston W, Leung E, Lochmuller H, Mah JK, Marerro A, Massie R, McAdam L, McCormick A, Melanson M, Mezei MM, Nguyen CE, O'Connell C, O'Ferrall EK, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg KL, Selby K, Sheriko J, Shoesmith C, Smith G, Taillon M, Taylor S, Warman Chardon J, Worley S, Korngut L. A National Spinal Muscular Atrophy Registry for Real-World Evidence. Can J Neurol Sci. 2020 Nov;47(6):810-815. doi: 10.1017/cjn.2020.111. Epub 2020 Jun 4.

  PMID: 32493524 BACKGROUND

• Nakamura R, Kitamura A, Tsukamoto T, Otowa Y, Okamoto N, Ogawa N, Yamakawa I, Kim H, Sanada M, Urushitani M. Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound. Intern Med. 2021 Jun 15;60(12):1935-1939. doi: 10.2169/internalmedicine.6396-20. Epub 2021 Jan 15.

  PMID: 33456041 BACKGROUND

• Coratti G, Carmela Pera M, Montes J, Scoto M, Pasternak A, Bovis F, Sframeli M, D'Amico A, Pane M, Albamonte E, Antonaci L, Lia Frongia A, Mizzoni I, Sansone VA, Russo M, Bruno C, Baranello G, Messina S, Dunaway Young S, Glanzman AM, Duong T, de Sanctis R, Stacy Mazzone E, Milev E, Rohwer A, Civitello M, Darras BT, Bertini E, Day J, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscul Disord. 2022 Jan;32(1):36-42. doi: 10.1016/j.nmd.2021.10.009. Epub 2021 Nov 7.

  PMID: 34980538 BACKGROUND

• Moreira AL, Mendonca RH, Polido GJ, Oliveira MCB, Silva AMS, Zanoteli E. Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy. Ultrasound Med Biol. 2023 Jul;49(7):1569-1574. doi: 10.1016/j.ultrasmedbio.2023.02.021. Epub 2023 Apr 8.

  PMID: 37037685 BACKGROUND

• Ng KW, Connolly AM, Zaidman CM. Quantitative muscle ultrasound measures rapid declines over time in children with SMA type 1. J Neurol Sci. 2015 Nov 15;358(1-2):178-82. doi: 10.1016/j.jns.2015.08.1532. Epub 2015 Aug 28.

  PMID: 26432577 BACKGROUND

• Wu JS, Darras BT, Rutkove SB. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010 Aug 10;75(6):526-31. doi: 10.1212/WNL.0b013e3181eccf8f.

  PMID: 20697104 BACKGROUND

• Abraham A, Drory VE, Fainmesser Y, Algom AA, Lovblom LE, Bril V. Muscle thickness measured by ultrasound is reduced in neuromuscular disorders and correlates with clinical and electrophysiological findings. Muscle Nerve. 2019 Dec;60(6):687-692. doi: 10.1002/mus.26693. Epub 2019 Sep 10.

  PMID: 31478199 BACKGROUND

• Mah JK, van Alfen N. Neuromuscular Ultrasound: Clinical Applications and Diagnostic Values. Can J Neurol Sci. 2018 Nov;45(6):605-619. doi: 10.1017/cjn.2018.314.

  PMID: 30430964 BACKGROUND

• Heckmatt JZ, Pier N, Dubowitz V. Real-time ultrasound imaging of muscles. Muscle Nerve. 1988 Jan;11(1):56-65. doi: 10.1002/mus.880110110.

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• Pillen S, Arts IM, Zwarts MJ. Muscle ultrasound in neuromuscular disorders. Muscle Nerve. 2008 Jun;37(6):679-93. doi: 10.1002/mus.21015.

  PMID: 18506712 BACKGROUND

• Antonaci L, Pera MC, Mercuri E. New therapies for spinal muscular atrophy: where we stand and what is next. Eur J Pediatr. 2023 Jul;182(7):2935-2942. doi: 10.1007/s00431-023-04883-8. Epub 2023 Apr 17.

  PMID: 37067602 BACKGROUND

• Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Danilo Tiziano F, Mercuri E; Italian EAP Working Group. An observational study of functional abilities in infants, children, and adults with type 1 SMA. Neurology. 2018 Aug 21;91(8):e696-e703. doi: 10.1212/WNL.0000000000006050. Epub 2018 Jul 25.

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• De Sanctis R, Coratti G, Pasternak A, Montes J, Pane M, Mazzone ES, Young SD, Salazar R, Quigley J, Pera MC, Antonaci L, Lapenta L, Glanzman AM, Tiziano D, Muntoni F, Darras BT, De Vivo DC, Finkel R, Mercuri E. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016 Nov;26(11):754-759. doi: 10.1016/j.nmd.2016.10.002. Epub 2016 Oct 5.

  PMID: 27769560 BACKGROUND

• Chabanon A, Seferian AM, Daron A, Pereon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018.

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  PMID: 26515624 BACKGROUND

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Neuromuscular Diseases; Disease Progression

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Medical Doctor

Study Record Dates

• First Submitted: September 12, 2024
• First Posted: September 19, 2024
• Study Start: May 1, 2024
• Primary Completion: February 1, 2025
• Study Completion: May 1, 2025
• Last Updated: September 24, 2024

Record last verified: 2024-09

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)