The goal of this interventional non-pharmacological study is to evaluate, using a multimodal approach, the progression of autonomic and sensory involvement in in amyotrophic lateral sclerosis (ALS) patients enrolled within 18 months from motor onset and its relationship with the progression of overall clinical disability.
The main questions it aims to answer are:
* Is autonomic dysfunction at diagnosis associated with disease progression and survival in patients with Amyotrophic Lateral Sclerosis ? * Can we identify in the skin biomarkers to be used as reliable measures of disease progression and to apply in future clinical trials for patient stratification and to assess response to drug treatment ? Participants at time 0 will receive a full clinical and instrumental examination and a blood sample testing to check inclusion and exclusion criteria, genetic screening for the most common genes associated with ALS (SOD1, FUS, TARDBP and c9orf72), questionnaires about clinical characteristics, quality of life, pain and a multidomain battery of neuropsychological tests, multimodal assessment of the autonomic nervous system including skin biopsy for morphological study. At follow-up we'll perform clinical scales and skin biopsy.
Researchers will compare results from ALS patients with data obtained from a population of age and sex matched healthy subjects.
ALS patients will be recruited within 18 months from the motor symptoms onset
glucose intolerance or conditions potentially affecting the peripheral nervous system
Parallel
Skin biopsy
Diagnostic testA punch skin biopsy of 3mm will be used to analyze cutaneous innervation
Cardiovascular Reflexes testing
Diagnostic testCardiovascular reflex tests including deep breathing, head-up Tilt, standing, isometric exercises, mental arithmetic and Valsalva maneuver.
Administration of clinical scales evaluating autonomic symptoms, pain small fiber neuropathy symptoms
Diagnostic testWe'll characterize patients' symptoms through the administration of clinical scales such as: SCOPA-AUT autonomic symptoms scale; Brief Pain Inventory questionnaire
Dinamic Sweat Test
Diagnostic testTest for the functional assessment of postganglionic sudomotor pathway
Sensory peripheral innervation (IENF)
Quantification Intraepidermal Nerve Fibers (IENF ff/mm) in skin biopsy from fingertip, thigh and leg.
Autonomic peripheral innervation
Quantification of nerves in sweat gland (fiber lenght/um3) in skin biopsy from fingertip, thigh and leg. Quantification of nerves in arrector pili muscle (ff/mm) in skin biopsy from thigh and leg.
Autonomic peripheral innervation
Quantification sweat gland (fiber lenght/um3) and arrector pili muscle (ff/mm) innervation in skin biopsy from thigh.
Sensory peripheral innervation (IENF)
Quantification Intraepidermal Nerve Fibers (IENF ff/mm) in skin biopsy from thigh.
Sensory and autonomic symptoms evaluated by clinical scales
Data of sensory and autonomic symptoms (Small fiber neuropathy Symptoms inventory questionnaire (SFN-SIQ) and Scale for Outcomes in Parkinson's disease for Autonomic Symptoms (SCOPA AUT)) will be collected
Sensory and autonomic symptoms evaluated by clinical scales
Data of sensory and autonomic symptoms (Small fiber neuropathy Symptoms inventory questionnaire (SFN-SIQ) and Scale for Outcomes in Parkinson's disease for Autonomic Symptoms (SCOPA AUT)) will be collected
Assessment of Cardiovascular function
Data from cardiovascular reflex test will be analyzed and compared with morphological data and clinical motor severity
Sudomotor function
Data from dinamic sweat test will be analyzed and compared with morphological data and clinical motor severity
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