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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
National Institutes of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Merit E. Cudkowicz, MD, Massachusetts General Hospital
ClinicalTrials.gov Identifier:
NCT00677768
First received: May 9, 2008
Last updated: November 2, 2012
Last verified: November 2012
History of Changes
  Purpose

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.


Condition Intervention
Amyotrophic Lateral Sclerosis
Lou Gehrig's Disease
Primary Lateral Sclerosis
Nervous System Diseases
Hereditary Spastic Paraparesis
 Other: No intervention

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: A Multicenter Study for the Validation of ALS Biomarkers

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Massachusetts General Hospital:

Biospecimen Retention:   Samples With DNA

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.


Estimated Enrollment: 650
Study Start Date: April 2008
Estimated Study Completion Date: June 2013
Estimated Primary Completion Date: June 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Early ALS Other: No intervention
Sample collection
Suspected ALS Other: No intervention
Sample collection
Disease Mimics of ALS Other: No intervention
Sample collection
Healthy Controls Other: No intervention
Sample collection

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.

  Eligibility

Ages Eligible for Study:   30 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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.

Criteria

  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).
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00677768

  Show 30 Study Locations
Sponsors and Collaborators
Massachusetts General Hospital
ALS Association
ALS Therapy Alliance
National Institutes of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Merit E Cudkowicz, MD, MSc Massachusetts General Hospital
  More Information

Additional Information:
ALS Association Website  This link exits the ClinicalTrials.gov site
NEALS ALS Consortium  This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party: Merit E. Cudkowicz, MD, Professor of Neurology, Massachusetts General Hospital
ClinicalTrials.gov Identifier: NCT00677768     History of Changes
Other Study ID Numbers: BIO_ALS-01, 5RC1NS068179-02
Study First Received: May 9, 2008
Last Updated: November 2, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Massachusetts General Hospital:
Biomarkers
Plasma
Cerebrospinal Fluid
DNA
Serum

Additional relevant MeSH terms:
Amyotrophic Lateral Sclerosis
Nervous System Diseases
Sclerosis
Paraparesis, Spastic
Motor Neuron Disease
Paraparesis
Spinal Cord Diseases
Central Nervous System Diseases
Neurodegenerative Diseases
 TDP-43 Proteinopathies
Neuromuscular Diseases
Proteostasis Deficiencies
Metabolic Diseases
Pathologic Processes
Paresis
Neurologic Manifestations
Signs and Symptoms

ClinicalTrials.gov processed this record on May 19, 2013