Amyotrophic Lateral Sclerosis: a New Paradigm (ALSParadigm)

Amyotrophic Lateral Sclerosis (ALS) is a degenerative neuromuscular disease, progressing inexorably to respiratory failure, the by involvement of respiratory muscles, the commitment with most impact on the prognosis of ALS.

According to current knowledge, the clinical presentation of the disease is characterized by spinal or bulbar involvement, the latter being associated with a worse prognosis.

There are multiple factors described in the aetiology of ALS, as the successive damage the motor neuron, which can happen in high-impact athletes, or exposure to heavy metals. Genetic mutations are also described, being associated to a higher prevalence of ALS.

Data from retrospective studies with ALS populations reveal a prevalence of 4-8 cases per 100,000 persons. Research carried out in Trás-os-Montes e Alto Douro region (Northeast of Portugal) shows a high prevalence of ALS, with near 10 cases per 100,000 persons, with a recent increase in the bulbar involvement. The reasons for the high prevalence of ALS in this region are unknown.

Study Overview

• Status: Completed
• Conditions: Amyotrophic Lateral Sclerosis
• Intervention / Treatment: Other: ALS patients epidemiological caracterization; Genetic: ALS patients genetic characterization

Detailed Description

The objective of this research is to pursue potentially involved genetic mutations in this disease (new or previously described), in addition to carry out a epidemiological questionnaire including data on personal history, environmental and occupational exposure that might be underlying this high prevalence.

• Study Type: Observational
• Enrollment (Actual): 30

Contacts and Locations

Study Locations

• Portugal
  • Vila Real, Portugal, 5000
    • Centro Hospitalar Tras-os-Montes e Alto Douro

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with Amyotrophic Lateral Sclerosis sent to a medical consultation

Description

Inclusion Criteria:

• All patients with Amyotrophic Lateral Sclerosis sent to a medical consultation

Exclusion Criteria:

• Amyotrophic Lateral Sclerosis not confirmed
• Ages less than 18 years old

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
ALS epidemiological characterization; epidemiological characterization	Other: ALS patients epidemiological caracterization; Epidemiological characterization in ALS patients
Genetic findings in ALS patients; genética characterization	Genetic: ALS patients genetic characterization; Genetic findings in ALS patients

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Finding environmental risk factor	Apply epidemiogycal form to All ALS patients sentido to respiratory evaluation in 2 years.	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Regional prevalence	Identify All cases ALS in regional area ( in north of Portugal)	1 year
Finding a genetic marker	Scan all ALS patients to eventually finding new ALS genes	2 years

Collaborators and Investigators

• Sponsor: Conde, Bebiana, M.D.
• Investigators: Principal Investigator: Bebiana Conde, MD, Centro Hospitalar Tras-os-Montes e Alto Douro

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2016
• Primary Completion (Actual): March 1, 2018
• Study Completion (Actual): June 1, 2018

Study Registration Dates

• First Submitted: March 26, 2016
• First Submitted That Met QC Criteria: March 2, 2017
• First Posted (Actual): March 8, 2017

Study Record Updates

• Last Update Posted (Actual): July 23, 2018
• Last Update Submitted That Met QC Criteria: July 19, 2018
• Last Verified: March 1, 2017

More Information

Terms related to this study

• Keywords: Amyotrophic Lateral Sclerosis; Bulbar disfunction; Rik factors ALS
• 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: 2 (Other Identifier: Instituto Cardiovascular de Buenos Aires)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: Research results will be shared with the scientific community through the publication of 2 to 3 papers in medical journals, as well as through the participation in national and international conferences. Whenever requested by the participants, the individual data resulting from clinical examinations will be provided.

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