Amyotrophic Lateral Sclerosis: a New Paradigm

Study Overview
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Brief Summary
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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
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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.

Official Title
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Amyotrophic Lateral Sclerosis: a New Paradigm

Conditions
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Amyotrophic Lateral Sclerosis

Intervention / Treatment
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* Genetic: ALS patients genetic characterization
* Other: ALS patients epidemiological caracterization


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| ALS epidemiological characterization<br>epidemiological characterization | Other: ALS patients epidemiological caracterization<br>* Epidemiological characterization in ALS patients<br>|
| Genetic findings in ALS patients<br>genética characterization | Genetic: ALS patients genetic characterization<br>* Genetic findings in ALS patients<br>|

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Amyotrophic Lateral Sclerosis, Bulbar disfunction, Rik factors ALS