Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS) (BIO_ALS-01)
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ClinicalTrials.gov Identifier: NCT00677768 |
Recruitment Status
:
Completed
First Posted
: May 14, 2008
Last Update Posted
: June 3, 2016
|
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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 or disease | Intervention/treatment |
---|---|
Amyotrophic Lateral Sclerosis Lou Gehrig's Disease Primary Lateral Sclerosis Nervous System Diseases Hereditary Spastic Paraparesis | Other: No intervention |
Study Type : | Observational |
Actual Enrollment : | 475 participants |
Observational Model: | Case Control |
Time Perspective: | Prospective |
Official Title: | A Multicenter Study for the Validation of ALS Biomarkers |
Study Start Date : | April 2008 |
Actual Primary Completion Date : | November 2015 |
Actual Study Completion Date : | November 2015 |

Group/Cohort | Intervention/treatment |
---|---|
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
|
- ALS Functional Rating Scale (ALSFRS-R) [ Time Frame: Every 6 months ]The ALSFRS-R is a quickly administered (5 min) ordinal rating scale used to determine a subject's assessment of their capability and independence in 12 functional activities. There are 12 questions, graded by the subject 0-4 (4 is normal). Score of 0 (worst) to 48 (best). Reflects speech and swallowing, fine motor skills, large motor skills, and breathing.
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.

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Ages Eligible for Study: | 30 Years to 80 Years (Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
-
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)
-
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)
-
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)
-
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).

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00677768

Principal Investigator: | James D. Berry, MD, MPH | Massachusetts General Hospital |
Additional Information:
Responsible Party: | James D. Berry MD, Principal Investigator, Massachusetts General Hospital |
ClinicalTrials.gov Identifier: | NCT00677768 History of Changes |
Other Study ID Numbers: |
BIO_ALS-01 5RC1NS068179-02 ( U.S. NIH Grant/Contract ) |
First Posted: | May 14, 2008 Key Record Dates |
Last Update Posted: | June 3, 2016 |
Last Verified: | June 2016 |
Keywords provided by James D. Berry MD, Massachusetts General Hospital:
Biomarkers Plasma Cerebrospinal Fluid DNA Serum |
Additional relevant MeSH terms:
Sclerosis Motor Neuron Disease Amyotrophic Lateral Sclerosis Nervous System Diseases Paraparesis Paraparesis, Spastic Pathologic Processes Neurodegenerative Diseases Neuromuscular Diseases |
Spinal Cord Diseases Central Nervous System Diseases TDP-43 Proteinopathies Proteostasis Deficiencies Metabolic Diseases Paresis Neurologic Manifestations Signs and Symptoms |