Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
Condition: Amyotrophic Lateral Sclerosis; Lou Gehrig's Disease; Primary Lateral Sclerosis; Nervous System Diseases; Hereditary Spastic Paraparesis
MeSH terms: Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Nervous System Diseases; Paraparesis; Paraparesis, Spastic; Sclerosis
Study type: Observational

Summary: 
      The purpose of this study is to collect 650 blood and 300 cerebrospinal fluid (CSF) samples
      from people with amyotrophic lateral sclerosis (ALS), pure lower or upper motor neuron
      diseases, as well as other neurodegenerative diseases and from people with no neurological
      disorder. Through comparison of these samples, the researchers hope to learn more about the
      underlying cause of ALS, as well as find unique biological markers, which could be used to
      diagnose ALS and monitor disease progression.

      Additionally, up to 600 blood samples will be collected for a sub-study for DNA analysis.
      Studying components of the blood, such as DNA, may help us understand what happens when genes
      function abnormally and how it might be related to disease.
    

Detailed description: 
      Researchers tested what changes happen in volunteers with ALS that can be seen in the blood
      and what changes are unique to ALS and are different from those found in healthy volunteers
      and volunteers with neurological diseases other than ALS. These changes are called
      biomarkers. Biomarkers for ALS have been found in blood collected in earlier phases of this
      study. Biomarkers are non-genetic elements in your blood that may help to make diagnosing ALS
      easier. In the next phase, comparison of these changes in the blood of volunteers with ALS
      and without ALS will be used to confirm these biomarkers and to develop a tool to diagnose
      and monitor progression of ALS.
    

Intervention name(s): No intervention
Intervention type(s): Other
Intervention description(s): Sample collection
Observational model: Case-Control
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Volunteers will be invited to participate in this study by their neurologists either in
        clinic or at a regular scheduled appointment visit.
      
Biospecimen description: 
      650 blood samples (plasma and serum)will be collected from four groups: ALS volunteers
      diagnosed with ALS, volunteers with pure lower or pure upper motor neuron diseases,
      volunteers with other neurological diseases and healthy control volunteers.

      300 cerebrospinal fluid (CSF) samples will be collected from all four groups: ALS volunteers
      diagnosed with ALS, volunteers with pure lower or pure upper motor neuron diseases,
      volunteers with other neurological diseases and healthy control volunteers.

      Up to 600 DNA samples will also be collected from all 4 groups: ALS volunteers diagnosed with
      ALS, volunteers with pure lower or pure upper motor neuron diseases, volunteers with other
      neurological diseases and healthy control volunteers.
    
Keywords: Biomarkers; Plasma; Cerebrospinal Fluid; DNA; Serum