Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis Clinical Trial

— BIO_ALS-01  

Official title:

A Multicenter Study for the Validation of ALS Biomarkers

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00677768
• Other study ID #: BIO_ALS-01
• Secondary ID: 5RC1NS068179-02
• Status: Completed
• Phase: N/A
• First received: May 9, 2008
• Last updated: June 2, 2016
• Start date: April 2008
• Est. completion date: November 2015

Study information

• Verified date: June 2016
• Source: Massachusetts General Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 475
• Est. completion date: November 2015
• Est. primary completion date: November 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 30 Years to 80 Years

Eligibility

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).

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Amyotrophic Lateral Sclerosis
• Hereditary Spastic Paraparesis
• Lou Gehrig's Disease
• Motor Neuron Disease
• Nervous System Diseases
• Paraparesis
• Paraparesis, Spastic
• Primary Lateral Sclerosis
• Sclerosis

Intervention

Other:
• No intervention
Sample collection

Locations

Country	Name	City	State
Canada	Montreal Neurological Institute	Montreal	Quebec
United States	Upstate Clinical Research, LLC	Albany	New York
United States	Emory University	Atlanta	Georgia
United States	Johns Hopkins University	Baltimore	Maryland
United States	Massachusetts General Hospital	Boston	Massachusetts
United States	Lahey Clinic	Burlington	Massachusetts
United States	Carolinas Health Care	Charlotte	North Carolina
United States	University of Chicago	Chicago	Illinois
United States	OSU Medical Center	Columbus	Ohio
United States	Duke University Medical Center	Durham	North Carolina
United States	Saint Mary's Healthcare	Grand Rapids	Michigan
United States	Pennsylvania State University	Hershey	Pennsylvania
United States	Methodist Neurological Institute	Houston	Texas
United States	Mayo Clinic Neurology	Jacksonville	Florida
United States	Dartmouth Hitchcock Medical Center	Lebanon	New Hampshire
United States	University of Miami	Miami	Florida
United States	Hennepin County Medical Center	Minneapolis	Minnesota
United States	Robert Wood Johnson/UMDNJ	New Brunswick	New Jersey
United States	Beth Israel Medical Center, PACC	New York	New York
United States	University of California Irvine	Orange	California
United States	Drexel University College of Medicine	Philadelphia	Pennsylvania
United States	Phoenix Neurological Associates, Ltd.	Phoenix	Arizona
United States	University of Pittsburgh	Pittsburgh	Pennsylvania
United States	Oregon Health & Science University	Portland	Oregon
United States	Providence ALS Clinic	Portland	Oregon
United States	Saint Louis University	Saint Louis	Missouri
United States	Washington University	Saint Louis	Missouri
United States	University of Utah	Salt Lake City	Utah
United States	SUNY Upstate Medical University	Syracuse	New York
United States	Wake Forest University	Winston-Salem	North Carolina

Sponsors (5)

Lead Sponsor	Collaborator
Massachusetts General Hospital	ALS Association, ALS Therapy Alliance, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH)

Countries where clinical trial is conducted

United States,  Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	ALS Functional Rating Scale (ALSFRS-R)	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.	Every 6 months	No

External Links

•   ALS Association Website
•   NEALS ALS Consortium