Clinical Trial: Amyotrophic Lateral Sclerosis: a New Paradigm

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Amyotrophic Lateral Sclerosis: a New Paradigm

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 Summary: 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.
Sponsor: Conde, Bebiana, M.D.

Current Primary Outcome: Finding environmental risk factor [ Time Frame: 2 years ]

Apply epidemiogycal form to All ALS patients sentido to respiratory evaluation in 2 years.


Original Primary Outcome: Same as current

Current Secondary Outcome:

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


Original Secondary Outcome: Same as current

Information By: Conde, Bebiana, M.D.

Dates:
Date Received: March 26, 2016
Date Started: December 2016
Date Completion: December 2018
Last Updated: March 2, 2017
Last Verified: March 2017