Amyotrophic Lateral Sclerosis: a New Paradigm (ALSParadigm)

C

Conde, Bebiana, M.D.

Status

Completed

Conditions

Amyotrophic Lateral Sclerosis

Treatments

Genetic: ALS patients genetic characterization
Other: ALS patients epidemiological caracterization

Study type

Observational

Identifiers

NCT03073239
2

Details and patient eligibility

About

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.

Full 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.

Enrollment

30 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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

Trial design

30 participants in 2 patient groups

ALS epidemiological characterization
Description:
epidemiological characterization
Treatment:
Other: ALS patients epidemiological caracterization
Genetic findings in ALS patients
Description:
genética characterization
Treatment:
Genetic: ALS patients genetic characterization

Trial contacts and locations

0

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Data sourced from clinicaltrials.gov

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