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Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS) (BIO_ALS-01)

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborators:
ALS Association
ALS Therapy Alliance
Information provided by (Responsible Party):
Merit E. Cudkowicz, MD, Massachusetts General Hospital
ClinicalTrials.gov Identifier:
NCT00677768
First received: May 9, 2008
Last updated: March 24, 2014
Last verified: March 2014

May 9, 2008
March 24, 2014
April 2008
December 2014   (final data collection date for primary outcome measure)
Not Provided
Not Provided
Complete list of historical versions of study NCT00677768 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
A Multicenter Study for the Validation of ALS Biomarkers

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.

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.

Observational
Observational Model: Case Control
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
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.

Non-Probability Sample

Volunteers will be invited to participate in this study by their neurologists either in clinic or at a regular scheduled appointment visit.

  • Amyotrophic Lateral Sclerosis
  • Lou Gehrig's Disease
  • Primary Lateral Sclerosis
  • Nervous System Diseases
  • Hereditary Spastic Paraparesis
Other: No intervention
Sample collection
  • Early ALS
    Intervention: Other: No intervention
  • Suspected ALS
    Intervention: Other: No intervention
  • Disease Mimics of ALS
    Intervention: Other: No intervention
  • Healthy Controls
    Intervention: Other: No intervention
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
475
December 2014
December 2014   (final data collection date for primary outcome measure)
  1. ALS Volunteers

    Inclusion Criteria:

    • Diagnosis of possible (excluding volunteers with UMN signs ONLY), probable, probable-laboratory supported, or definite ALS, either sporadic or familial according to revised El Escorial criteria
    • Disease duration of less than or equal to two years from symptom onset
    • Age 30-80 years at the time of disease onset
    • Ability to provide informed consent
    • Ability to comply with study procedures
    • Medically safe to have lumbar puncture (lumbar puncture volunteers only)

    Exclusion Criteria:

    • Clinical evidence of chronic liver or renal failure
    • Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
    • Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)
  2. Suspected ALS (PMND) Volunteers

    Inclusion Criteria:

    • Diagnosis of suspected ALS defined as presence of UMN or LMN signs alone and the diagnosis of Clinically Probably Laboratory-Supported ALS CANNOT be proven by evidence in clinical grounds in conjunction with electrodiagnostic, neurophysiologic, neuroimaging or clinically laboratory studies
    • Disease duration of less than or equal to four years from symptom onset
    • Age 30-80 years at time of disease onset
    • Ability to provide informed consent
    • Ability to comply with study procedures
    • Medically safe to have lumbar puncture (lumbar puncture volunteers only)

    Exclusion Criteria:

    • Clinical evidence of chronic liver or renal failure
    • Genetically confirmed diagnosis of hereditary spastic paraparesis or spinal motor atrophy (SMA) disease
    • Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
    • Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)
  3. Neurological Disease Mimic Volunteers

    Inclusion Criteria:

    Diagnosis of one of the following:

    Pure Lower Motor Neuron Disease (LMND) mimics:

    • Multi-focal motor neuropathy
    • Autoimmune motor neuropathy
    • Cervical or lumbosacral radiculopathies

    Peripheral mononeuropathies:

    • Ulnar neuropathy
    • Carpal tunnel syndrome/median neuropathy
    • Peroneal neuropathy
    • Sciatic neuropathy
    • Spinal muscular atrophy
    • Spinobulbar muscular atrophy (Kennedy's disease)
    • Charcot Marie-Tooth Disease (CMT)

    Pure Upper Motor Neuron Disease (UMND) mimics:

    • Cervical myelopathy
    • Multiple sclerosis
    • Hereditary spastic paraparesis
    • Age 30-80 years
    • Ability to provide informed consent
    • Ability to comply with study procedures
    • Medically safe to have lumbar puncture (lumbar puncture volunteers only)

    Exclusion Criteria:

    • Diagnosis of suspected, possible, probable or definite ALS either sporadic or familial
    • Presence of positive family history of ALS
    • Clinical evidence of chronic renal or liver failure
    • Presence of a bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (lumbar puncture volunteers only)
    • Use of any anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (lumbar puncture volunteers only)
  4. Healthy Control Volunteers Inclusion Criteria

    • Absence of a known neurological disorder.
    • Age 30 - 80 years.
    • Ability to provide informed consent.
    • Ability to comply with study procedures.
    • Medically safe to have lumbar puncture.

Exclusion Criteria:

  • History of ALS, myopathy, neuropathy, ALS mimic disorder or other neurodegenerative disease.
  • Presence of positive family history of ALS.
  • Clinical evidence of chronic liver or renal failure.
  • Presence of bleeding disorder, problems with CSF pressure, allergy to local anesthetics, or a topical or other skin infection at the LP site (LP research volunteers only).
  • Research participant must not be taking anti-platelet or anticoagulant drugs, such as plavix, aggrenox, ticlid, warfarin or coumadin (LP research volunteers only).
Both
30 Years to 80 Years
Yes
Contact information is only displayed when the study is recruiting subjects
United States,   Canada
 
NCT00677768
BIO_ALS-01, 5RC1NS068179-02
No
Merit E. Cudkowicz, MD, Massachusetts General Hospital
Massachusetts General Hospital
  • ALS Association
  • ALS Therapy Alliance
  • National Institutes of Health (NIH)
  • National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Merit E Cudkowicz, MD, MSc Massachusetts General Hospital
Massachusetts General Hospital
March 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP