Circulating Biomarker for Amyotrophic Lateral Sclerosis (ALS)

Observational Case-Control Study to Identify Circulating miR-218 as a Possible Non-invasive Biomarker of Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS) is a rare disease with a worldwide incidence of 2-3 cases per 100,000 individuals/year and it is characterized by progressive neurodegeneration of motor neurons. When motor neurons degenerate the ability of the brain to initiate and control muscle movement is lost. ALS manifests in two forms: Familiar ALS (FALS) with inherited risk genotypes, accounts for only 10% of cases and sporadic ALS (SALS) without apparent heritability accounts for 90% of cases. ALS can occur in both female and male subjects at any age but is more common in people aged over 40.

Although the molecular mechanism underlying the pathogenesis of ALS is still under investigation, recent research has revealed that diseases affecting motor neurons may be associated to alterations of RNA metabolism and biogenesis of small non-coding micro RNAs (miRNAs). miRNAs are circulating molecules, whose expression profiles are widely described to have an important potential in monitoring the progression of a disease, to promote the development of more targeted therapies and/or to determine the effectiveness of treatments. Altered patterns of specific miRNAs expression have been described in several pathological conditions. Evidence shows a significant reduction in the levels of certain miRNAs also in patients with ALS. Among others, miRNA-218 has been described to play a critical role in the onset of motor neurons differentiation and in establishing cell identity and fate.

Changes in the levels of miRNA-218 in the serum of ALS patients may potentially provide useful tools to determine the possible association with this disease and to candidate it as indicator of disease progression.

Study Overview

• Status: Recruiting
• Conditions: Amyotrophic Lateral Sclerosis (ALS)

• Study Type: Observational
• Enrollment (Anticipated): 60

Contacts and Locations

• Study Contact: Name: Alba Di Pardo; Phone Number: +39 0865 915212; Email: dipardoa@hotmail.com

Study Locations

• Italy
  • Pozzilli, Italy
    • Recruiting
    • IRCCS Neuromed
    • Contact: Alba Di Pardo

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 20 years to 75 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

A total of 60 individuals (30 subjects clinically diagnosed as ALS patients and 30 healthy controls) will be recruited at Centre for Rare Diseases, IRCCS Neuromed

Description

Inclusion Criteria:

• ALS patients admitted to Centre for Rare Diseases, IRCCS Neuromed,
• Patients diagnosed ALS within 6 months,
• Patients age between 20 years and 75 years old,
• Patients underwent to differential diagnosis using diagnostic tools (EMG, NCV, MRI) to exclude other diseases with similar signs and symptoms,
• Subjects able to communicate verbally or by using a non-verbal communication system.

Exclusion Criteria:

• Pregnant women,
• Subjects with malignant tumor,
• Subjects/Patients with others neurological or psychiatric disorders,
• Subjects/Patients with systemic diseases,
• Subjects/Patients with positive blood test for hepatitis B or C, or HIV,
• Patients included in other clinical trials,
• Subjects/Patients showing inability to understand the informed consent and the study's purpose

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
30 ALS patients
30 healthy controls

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of circulating miR-218 as biomarker for ALS	Quantitative assessment of potential changes in the levels of miR-218 in the serum of ALS patients vs healthy controls	8 months

Collaborators and Investigators

• Sponsor: Neuromed IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2017
• Primary Completion (Anticipated): September 1, 2023
• Study Completion (Anticipated): December 1, 2024

Study Registration Dates

• First Submitted: March 13, 2017
• First Submitted That Met QC Criteria: March 17, 2017
• First Posted (Actual): March 23, 2017

Study Record Updates

• Last Update Posted (Actual): March 15, 2023
• Last Update Submitted That Met QC Criteria: March 14, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Sclerosis; Motor Neuron Disease; Amyotrophic Lateral Sclerosis
• Other Study ID Numbers: ADP_01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No