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NCT Number: NCT06318585

Creation of a Clinical Database for the Study of Phenotypic Variability in Motor Neuron Diseases

Study Description: Characterization of Motor Neuron Disease Phenotypes

The goal of this observational study is to understand the clinical presentation of motor neuron disease (MND) in patients attending the Neurology Department of the Istituto Auxologico Italiano. The main questions it aims to answer are:

* What are the specific clinical phenotypes associated with MND? * How can these phenotypes contribute to a better understanding of the disease's underlying mechanisms and improve prognostic accuracy?

Participants will undergo:

* Clinical evaluation using validated scales * Neurophysiological and neuroradiological instrumental assessment * Neuropsychological evaluation * Collection of biological materials for genetic screening and biomarker assessment, if necessary.

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Key information

Conditions

Amyotrophic Lateral Sclerosis Central Nervous System Diseases Metabolic Diseases Motor Neuron Disease Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Proteostasis Deficiencies Spinal Cord Diseases TDP-43 Proteinopathies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Ospedale San Luca

Milan, MI, 20149, Italy

Location status: Recruiting

Location contact

Alberto Doretti, MD

CONTACT

[email protected]

+0261911 ext. 2937

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • diagnosis of ALS or other motor neuron disease

Exclusion criteria

  • refusal to participate to the study

Treatment and study plan

Primary outcomes

  1. no. of patients with classic ALS

    Time frame: baseline (at diagnosis), at 1 year

    no. of patients with classic ALS

  2. no. of patients with bulbar ALS

    Time frame: baseline (at diagnosis), at 1 year

    no. of patients with bulbar ALS

  3. no. of patients with LMN phenotypes (flail arm, flail leg, PMA)

    Time frame: baseline (at diagnosis), at 1 year

    no. of patients with LMN phenotypes (flail arm, flail leg, PMA)

  4. no. of patients with UMN phenotypes (pyramidal ALS, PLS)

    Time frame: baseline (at diagnosis), at 1 year

    no. of patients with UMN phenotypes (pyramidal ALS, PLS)

Study contacts

Contact information is provided by the study sponsor or research team.

Nicola Ticozzi, MD, PhD

CONTACT

[email protected]

+390261911 ext. 2937

Sponsors and collaborators

Lead sponsor

Istituto Auxologico Italiano

Other

Registry information

Official study title

Creazione di un Database Clinico Per lo Studio Della variabilità Fenotipica Nella Malattia Del Motoneurone

Acronym: ALS-PHENO

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Mar 19, 2024
Registry last updated
May 7, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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