The Neuroimage Study of the Neuromuscular Disorders.

Recruiting

• Conditions: Neuromuscular Diseases
• Interventions: Diagnostic Test: Neuromuscular ultrasound; Diagnostic Test: Muscle MRI; Diagnostic Test: Nerve conduction studies and autonomic function tests; Diagnostic Test: Quantitative sensory test; Diagnostic Test: Skin biopsy; Diagnostic Test: Muscle and nerve biopsy; Diagnostic Test: Contact heat evoked potentials; Diagnostic Test: Genomics, transcriptome, and proteomics; Diagnostic Test: Laboratory of blood chemical substances, metals and endocrine profiles; Diagnostic Test: Transcranial magnetic stimulation (TMS); Diagnostic Test: Nerve excitability study; Diagnostic Test: fMRI acquisition and image analysis

• Registration Number: NCT05048862
• Lead Sponsor: National Taiwan University Hospital

Brief Summary

The neuromuscular disorders could be briefly divided to neuropathy, myopathy, motor neuron disease, and neuromuscular junction disorder. In the past, the evaluation of the neuromuscular disorders depended on several ways (ex. electrodiagnostic studies and biopsy) to evaluate the pathophysiology and the pathological change. However, due to the issue of resolution, few image studies were available to evaluate the structure for clinical practice. With the growing techniques, there are two ways to see the nerve and muscle in vivo, the magnetic resonance imaging (MRI) and the ultrasonography. The availability of the machine, the high cost, inability to change the position for dynamic views of the nerves, and the relative invasion considering the large energy penetrating the patient might limit the clinical use of MRI. The nerve ultrasonography is a safe and easily available technique. The development of high-frequency transducers has led to an improvement in the resolution of ultrasonography and enables the exploration of peripheral nerve and muscle structural changes. In additional to evaluate the morphological changes, ultrasonography has been used extensively for the vessel status assessment through duplex ultrasound. In present study, we will apply variable approaches, including to muscle, nerve, and skin biopsy, electrophysiological study, quantitative sensory testing, autonomic functional tests, pain evoked potentials, MRI, and ultrasonography to integrally investigate the different aspects of neuromuscular disorders. The results of the study will provide integrated insights of (1) the neurophysiology of nerve and vessels and (2) pathogenesis of different neuromuscular disorders.

Detailed Description

This is a prospective observational study which will be performed in both the inpatient and outpatient setting of National Taiwan University Hospital. Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study. The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.

Different interventions were performed periodically to see the serial change. The interval between the interventions is within 1 month and there is no new symptoms or any events.

Study Timeline

• Study Start: 2021-08-01
• Study First Submitted: 2021-08-23
• Study First Submitted QC: 2021-09-09
• Study First Posted: 2021-09-17
• Status Verified: 2023-10
• Last Update Submitted: 2023-10-29
• Last Update Posted: 2023-10-31
• Primary Completion: 2031-08-01
• Study Completion: 2031-08-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Normal group	Muscle MRI	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Neuromuscular disorder	Muscle and nerve biopsy	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	Nerve excitability study	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Normal group	Nerve conduction studies and autonomic function tests	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Normal group	Contact heat evoked potentials	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Normal group	Transcranial magnetic stimulation (TMS)	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Neuromuscular disorder	Neuromuscular ultrasound	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	Nerve conduction studies and autonomic function tests	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	Skin biopsy	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	Genomics, transcriptome, and proteomics	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	Laboratory of blood chemical substances, metals and endocrine profiles	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Normal group	Neuromuscular ultrasound	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Neuromuscular disorder	Muscle MRI	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	Contact heat evoked potentials	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	Transcranial magnetic stimulation (TMS)	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Normal group	Genomics, transcriptome, and proteomics	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Neuromuscular disorder	Quantitative sensory test	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Neuromuscular disorder	fMRI acquisition and image analysis	Patients age at least 20 years, and have been diagnosed as neuromuscular disorders by the neurologist. Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent are excluded from this study.
Normal group	Laboratory of blood chemical substances, metals and endocrine profiles	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Normal group	Quantitative sensory test	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Normal group	Nerve excitability study	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.
Normal group	fMRI acquisition and image analysis	The normal group (age at least 20 years) who had no neurological symptoms or signs were also recruited. The neurological examination performed by the board neurologist must be normal in the normal group.

Primary Outcome Measures

Name	Time	Method
Lean muscle volume and fat fraction in MRI	up to 10 years	Change from Baseline to serial follow-up MRI with the interval of 2 years.
Muscle thickness and echogenecity in ultrasound	up to 10 years	Change from Baseline to serial follow-up ultrasound with the interval of 2 years.

Secondary Outcome Measures

Name	Time	Method
Separate disease functional score	up to 10 years	Separate disease functional scores were: (1) Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) in ALS. The values are 0-48. A lower score indicates a worse outcome. (2) Neuropathy Impairment Score (NIS) and Nerve Disability Score (NDS) in polyneuropathy. The values are 0-244 in NIS and 0-172 in NDS. A higher score indicates a worse outcome in both scores. (3) Medical Research Council Sum-Score (MRC-SS) in myopathy. The values are 0-60. A lower score indicates a worse outcome. (4) MG Activities of Daily Living (MG-ADL) and the Quantitative Myasthenia Gravis (QMG) Test in myasthenia gravis. The values are 0-24 in MG-ADL and 0-72 in QMG. A higher score indicates a worse outcome in both scores.
Natural History	up to 10 years	To delineate the natural history of different neuromuscular disorders.

Trial Locations

Locations (1)

National Taiwan Univeristy Hospital; 🇨🇳 Taipei, Taiwan