NCT06318585

Brief Summary

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
8mo left

Started Apr 2023

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress83%
Apr 2023Dec 2026

Study Start

First participant enrolled

April 3, 2023

Completed
11 months until next milestone

First Submitted

Initial submission to the registry

March 8, 2024

Completed
11 days until next milestone

First Posted

Study publicly available on registry

March 19, 2024

Completed
2.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2026

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2026

Last Updated

May 7, 2025

Status Verified

May 1, 2025

Enrollment Period

3.7 years

First QC Date

March 8, 2024

Last Update Submit

May 5, 2025

Conditions

Outcome Measures

Primary Outcomes (4)

  • no. of patients with classic ALS

    no. of patients with classic ALS

    baseline (at diagnosis), at 1 year

  • no. of patients with bulbar ALS

    no. of patients with bulbar ALS

    baseline (at diagnosis), at 1 year

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

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

    baseline (at diagnosis), at 1 year

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

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

    baseline (at diagnosis), at 1 year

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Consecutive cohort of patients from a tertiary Italian ALS Centre

You may qualify if:

  • diagnosis of ALS or other motor neuron disease

You may not qualify if:

  • refusal to participate to the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Ospedale San Luca

Milan, MI, 20149, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA, plasma, serum, CSF

MeSH Terms

Conditions

Amyotrophic Lateral SclerosisMotor Neuron Disease

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurodegenerative DiseasesTDP-43 ProteinopathiesNeuromuscular DiseasesProteostasis DeficienciesMetabolic DiseasesNutritional and Metabolic Diseases

Central Study Contacts

Nicola Ticozzi, MD, PhD

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 8, 2024

First Posted

March 19, 2024

Study Start

April 3, 2023

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2026

Last Updated

May 7, 2025

Record last verified: 2025-05

Locations