Longitudinal Assessment of Autonomic and Sensory Nervous System in ALS

Summary

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.

Conditions

• Amyotrophic Lateral Sclerosis

Interventions

DIAGNOSTIC_TEST

Skin biopsy

A punch skin biopsy of 3mm will be used to analyze cutaneous innervation

DIAGNOSTIC_TEST

Cardiovascular Reflexes testing

Cardiovascular reflex tests including deep breathing, head-up Tilt, standing, isometric exercises, mental arithmetic and Valsalva maneuver.

DIAGNOSTIC_TEST

Administration of clinical scales evaluating autonomic symptoms, pain small fiber neuropathy symptoms

We'll characterize patients' symptoms through the administration of clinical scales such as: SCOPA-AUT autonomic symptoms scale; Brief Pain Inventory questionnaire

DIAGNOSTIC_TEST

Dinamic Sweat Test

Test for the functional assessment of postganglionic sudomotor pathway

Sponsors & Collaborators

• Istituti Clinici Scientifici Maugeri SpA

  lead OTHER

Principal Investigators

• Maria Nolano, MD, PhD · Istituti Clinici Scientifici Maugeri SpA

Study Design

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-05-15

Primary Completion

2026-09-30

Completion

2026-12-30

Countries

• Italy

Study Locations