Amyotrophic Lateral Sclerosis: a New Paradigm

Completed

• Conditions: Amyotrophic Lateral Sclerosis
• Interventions: Other: ALS patients epidemiological caracterization; Genetic: ALS patients genetic characterization

• Registration Number: NCT03073239
• Lead Sponsor: Conde, Bebiana, M.D.

Brief Summary

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.

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 Timeline

• Study First Submitted: 2016-03-26
• Study Start: 2016-12
• Status Verified: 2017-03
• Study First Submitted QC: 2017-03-02
• Study First Posted: 2017-03-08
• Primary Completion: 2018-03
• Study Completion: 2018-06
• Last Update Submitted: 2018-07-19
• Last Update Posted: 2018-07-23

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
ALS epidemiological characterization	ALS patients epidemiological caracterization	epidemiological characterization
Genetic findings in ALS patients	ALS patients genetic characterization	genética characterization

Primary Outcome Measures

Name	Time	Method
Finding environmental risk factor	2 years	Apply epidemiogycal form to All ALS patients sentido to respiratory evaluation in 2 years.

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Centro Hospitalar Tras-os-Montes e Alto Douro; 🇵🇹 Vila Real, Portugal