Ultrasonographic Muscle Assessment and Functional Scales in Spinal Muscular Atrophy
NCT ID: NCT06599606
Last Updated: 2024-09-24
Study Results
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Basic Information
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ACTIVE_NOT_RECRUITING
34 participants
OBSERVATIONAL
2024-05-01
2025-05-01
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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CASE_CONTROL
CROSS_SECTIONAL
Study Groups
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Case
Patients diagnosed with spinal muscular atrophy (SMA) who have received at least four loading doses of nusinersen
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
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).
Interventions
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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).
Eligibility Criteria
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Inclusion Criteria
* Confirmed diagnosis of SMA through genetic testing
* Having received four loading doses of nusinersen
* Written consent provided for participation in the study
Exclusion Criteria
* Presence of spasticity that complicates positioning of the extremities and hinders ultrasound imaging
18 Years
ALL
Yes
Sponsors
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Istanbul University - Cerrahpasa
OTHER
Responsible Party
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Eren Aygun
Medical Doctor
Locations
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Istanbul University - Cerrahpasa (IUC)
Istanbul, , Turkey (Türkiye)
Countries
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References
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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.
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.
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.
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.
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.
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.
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.
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.
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.
Pillen S, Arts IM, Zwarts MJ. Muscle ultrasound in neuromuscular disorders. Muscle Nerve. 2008 Jun;37(6):679-93. doi: 10.1002/mus.21015.
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.
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.
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.
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.
Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004.
Other Identifiers
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IstanbulUC-EAygun-01
Identifier Type: -
Identifier Source: org_study_id
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