Spinal Muscular Atrophy (SMA)NCT06599606
Ultrasonographic Muscle Assessment and Functional Scales in Spinal Muscular Atrophy
An observational study of Spinal Muscular Atrophy (SMA) and Neuromuscular Disease, run by Istanbul University - Cerrahpasa at 1 site in Turkey (Türkiye).
Trial 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). Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy (SMA), Neuromuscular Disease
- What is being tested?
- Ultrasonographic Assessment
- How many people
- 34 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 May 2024to 1 May 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
Istanbul University - Cerrahpasa (IUC)
Istanbul, 34098
About this study
Official title: 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.
Read the 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.
- Being tested
- Ultrasonographic Assessment
- Keywords
- Spinal Muscular Atrophy (SMA), Muscle Ultrasonography, Muscle Thickness, Functional Scales, Disease Progression, Objective Biomarkers
- Medical subject headings
- Muscular Atrophy, Spinal, Neuromuscular Diseases, Disease Progression
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Ultrasonographic AssessmentDiagnostic 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).
| Study group | Role | What they receive |
|---|---|---|
| Case | Patients diagnosed with spinal muscular atrophy (SMA) who have received at least four loading doses of nusinersen Receives: Diagnostic Test: Ultrasonographic Assessment | |
| Control | Healthy, age- and sex-matched control individuals Receives: Diagnostic Test: Ultrasonographic Assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Baseline
Secondary outcomes (3)
CHOP-INTEND
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.
Measured: Baseline
HFMSE
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.
Measured: Baseline
RULM
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.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2024
- Study start1 May 2024
- Primary completion1 Feb 2025 (estimated)
- Study completion1 May 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (15)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- More trials run by Istanbul University - CerrahpasaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 34 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istanbul University - Cerrahpasa
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Eren Aygun, Istanbul University - Cerrahpasa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06599606
- Sponsor's protocol ID
- IstanbulUC-EAygun-01
- Status last verified
- Sep 2024
- First submitted
- 12 Sep 2024
- Last updated
- 24 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 32493524Nakamura 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.
PubMed 33456041Coratti 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.
PubMed 34980538Moreira 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.
PubMed 37037685Ng 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.
PubMed 26432577Wu 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.
PubMed 20697104Abraham 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.
PubMed 31478199Mah 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.
PubMed 30430964Heckmatt JZ, Pier N, Dubowitz V. Real-time ultrasound imaging of muscles. Muscle Nerve. 1988 Jan;11(1):56-65. doi: 10.1002/mus.880110110.
PubMed 3277050Pillen S, Arts IM, Zwarts MJ. Muscle ultrasound in neuromuscular disorders. Muscle Nerve. 2008 Jun;37(6):679-93. doi: 10.1002/mus.21015.
PubMed 18506712Antonaci 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.
PubMed 37067602Pane 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.
PubMed 30045959De 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.
PubMed 27769560Chabanon 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.
PubMed 30048507Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004.
PubMed 26515624
Study at a glance
From the registry record, last updated by the sponsor on 24 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT06599606
- Acronym / sponsor ID
- IstanbulUC-EAygun-01
- Keywords
- Spinal Muscular Atrophy (SMA), Muscle Ultrasonography, Muscle Thickness, Functional Scales, Disease Progression, Objective Biomarkers
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 34 participants (estimated)
- Lead sponsor
- Istanbul University - CerrahpasaUniversity, hospital or other
- Study start
- 1 May 2024 (actual)
- Primary completion
- 1 Feb 2025 (estimated)
- Study completion
- 1 May 2025 (estimated)
- First posted
- 19 Sep 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Case | – | Diagnostic Test: Ultrasonographic AssessmentPatients diagnosed with spinal muscular atrophy (SMA) who have received at least four loading doses of nusinersen |
| Control | – | Diagnostic Test: Ultrasonographic AssessmentHealthy, age- and sex-matched control individuals |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Ultrasonographic AssessmentA 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). | Diagnostic test | Case, Control |
Primary outcome
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.
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.
3 secondary outcomes
CHOP-INTEND
Time frame: Baseline
HFMSE
Time frame: Baseline
RULM
Time frame: Baseline
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Sep 2024.
- Results publication: PubMed 32493524Hodgkinson 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.
- Results publication: PubMed 33456041Nakamura 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.
- Results publication: PubMed 34980538Coratti 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.
- Results publication: PubMed 37037685Moreira 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.
- Results publication: PubMed 26432577Ng 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.
- Results publication: PubMed 20697104Wu 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.
- Results publication: PubMed 31478199Abraham 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.
- Results publication: PubMed 30430964Mah 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.
- Results publication: PubMed 3277050Heckmatt JZ, Pier N, Dubowitz V. Real-time ultrasound imaging of muscles. Muscle Nerve. 1988 Jan;11(1):56-65. doi: 10.1002/mus.880110110.
- Results publication: PubMed 18506712Pillen S, Arts IM, Zwarts MJ. Muscle ultrasound in neuromuscular disorders. Muscle Nerve. 2008 Jun;37(6):679-93. doi: 10.1002/mus.21015.
- Results publication: PubMed 37067602Antonaci 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.
- Results publication: PubMed 30045959Pane 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy (SMA) and Neuromuscular Disease, run by Istanbul University - Cerrahpasa at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 24 Sep 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Muscle Thickness Measurement (time frame: Baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06599606, which also lists 15 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Sep 2024.