Clinical trial NCT05048862: The Neuroimage Study of the Neuromuscular Disorders.
Official title: The Neuroimage Study of the Neuromuscular Disorders.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Neuromuscular Diseases
Keywords: neuromuscular disorder
neuromuscular ultrasonography
skin biopsy
muscle biopsy
nerve biopsy
magnetic resonance imaging
electrophysiological study
Lead sponsor: National Taiwan University Hospital
Sponsor class: OTHER
First posted: 2021-09-17
Enrollment: 500
Sex: ALL
Minimum age (years): 20
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

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.

Eligibility criteria: Inclusion Criteria (Neuromuscular group):

* been diagnosed as neuromuscular disorders by the neurologist
* at least 20-year-old

Inclusion Criteria (Normal group):

* no past history of neurological disorders.
* The neurological examination performed by the board neurologist must be normal
* at least 20-year-old

Exclusion Criteria (Neuromuscular and normal group):

* Patients who are unable to read the questionnaire, fail to accept all the examinations, and refuse to provide inform consent

Primary outcomes:
measure: Lean muscle volume and fat fraction in MRI
timeFrame: up to 10 years
measure: Muscle thickness and echogenecity in ultrasound
timeFrame: up to 10 years
Secondary outcomes:
measure: Natural History
timeFrame: up to 10 years
measure: Separate disease functional score
timeFrame: up to 10 years
Other outcomes:
Locations:
city: Taipei
country: Taiwan
facility: National Taiwan Univeristy Hospital
Study officials:
affiliation: National Taiwan University Hospital
name: Hsueh-Wen Hsueh, MD, MMS
role: PRINCIPAL_INVESTIGATOR
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