Biomarker-driven Phenotypic Dissection of Amyotrophic Lat... | NCT06318598

Studies
Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

NCT06318598

Sponsor

Istituto Auxologico Italiano

Status

Recruiting

Last Update Posted

May 7, 2025Actual

Enrollment

200Estimated

Phase

Not provided

Conditions

Amyotrophic Lateral Sclerosis
Motor Neuron Disease

Interventions

Not provided

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

May 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 11, 2023Actual

Primary Completion Date

Apr 10, 2026Estimated

Completion Date

Apr 10, 2026Estimated

First Submitted Date

Mar 8, 2024

First Submission Date that Met QC Criteria

Mar 15, 2024

First Posted Date

Mar 19, 2024Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 5, 2025

Last Update Posted Date

May 7, 2025Actual

Name	Class
A.O.U. Città della Salute e della Scienza	OTHER
Ospedale San Raffaele	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

The goal of this observational study is to understand the clinical variability in a population of ALS patients using multidimensional biomarkers. The main questions it aims to answer are:

Which set of biomarkers explain genotypic-phenotypic correlations in ALS?
Which set of biomarkers can be used to subdivide the ALS population in homogeneous subgroups?

Participants will undergo:

neurological evaluation
neurophysiological evaluation
neuropsychological evaluation
whole exome sequencing
biomarker measurement in CSF and plasma

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

200Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
genetic screening	no. of patients with ALS-associated mutations	baseline (at diagnosis)
biomarker assessment	no. of patients with abnormal NfL, GFAP, tau, UCHL1, MCP1 and TDP-43 levels	baseline (at diagnosis), at 6 months, at 1 year

Secondary Outcomes

Measure	Description	Time Frame
clinical assessment	no. of patients with increasing vs decreasing PUMNS/LMNS scores	baseline (at diagnosis), at 6 months, at 1 year
neuropsychological assessment	no. of patients with increasing vs decreasing ECAS scores

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

diagnosis of ALS or other motor neuron disease
residence near the study centers

Exclusion Criteria:

refusal to participate to the study
unable/unwilling to perform follow-up visits

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Consecutive cohort of incident patients from three Italian ALS Centers

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Nicola Ticozzi, MD, PhD	Contact	+390261911	2937	n.ticozzi@auxologico.it

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Ospedale San Raffaele	Recruiting	Milan	MI	20132	Italy

Condition Browse Module

MeSH Terms

ID	Term
D000690	Amyotrophic Lateral Sclerosis
D016472	Motor Neuron Disease

Ancestor Terms

ID	Term
D013118	Spinal Cord Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases
D019636	Neurodegenerative Diseases

Browse Leaves

Not provided

Browse Branches

Not provided