Cross-Sectional ALS Biofluid Biomarker (CABB) Study

Study Purpose:

The purpose of this trial is to extend and enlarge a biofluid repository of blood (including DNA), urine and CSF collected from people with ALS and controls, which will be shared with medical researchers to understand ALS and other diseases.

Disease:

Amyotrophic Lateral Sclerosis (ALS),  Familial ALS,  Sporadic ALS, Primary Lateral Sclerosis (PLS), Hereditary Spastic Paraplegia (HSP), Healthy Volunteer, Healthy Volunteer with a Family History of ALS, Other

Study Type:

Observational Study

Study Category:

Biomarkers/Imaging

Study Status:

Active, currently recruiting

Phase:

Not Applicable

Study Chair(s)/Principal Investigator(s):

James D. Berry, MD, MPH (Massachusetts General Hospital)

Clinicaltrials.gov ID (11 digit #):

Neals Affiliated?

Yes

Coordinating Center Contact Information

Massachusetts General Hospital (NCRI)
Sara Thrower / .(JavaScript must be enabled to view this email address) / 617-643-5374
Lauren Stafford / .(JavaScript must be enabled to view this email address) 165 Cambridge Street
Boston, Massachusetts 02114 United States

Full Study Summary:

The aims of the proposed study are to extend and enlarge a biofluid repository of blood - plasma, serum, deoxyribonucleic acid (DNA), urine and cerebrospinal fluid (CSF) collected from people with amyotrophic lateral sclerosis (ALS) and controls to support research and identify biomarkers of ALS and other diseases. Investigators at multiple centers will participate in this collaborative study. The eventual goal is to enroll a total of up to 1,000 study participants. Once specific ALS biomarkers have been discovered, these could be used to make earlier diagnosis, monitoring disease progression, designing new therapies, or testing drug efficacy in clinical trials. Discovery of disease-specific biomarkers will shed light on the pathophysiology of ALS and could aid in developing disease modifying treatments. Samples will be shared with medical researchers to advance understanding of ALS and other diseases. Sample sharing will be performed through the Northeast ALS Consortium (NEALS) Biorepository and its sample request review committee. DNA collected from this study will be isolated and may be used in genome-wide association studies, specific gene identification, whole genome sequencing, or other targeted or untargeted gene studies.

Study Sponsor:

ALS Association (ALSA) and ALS Finding a Cure

Participant Duration:

1 required in-person visit for all subjects; 2 more additional optional visits at 6 months and 12 months (can be done via telephone) for ALS/MND/Asymptomatic subjects; Subjects may be contacted periodically thereafter for follow-up.

Estimated Enrollment:

up to 1,000

Estimated Study Start Date:

10/31/2015

Estimated Study Completion Date:

11/02/2016

Posting Last Modified Date:

09/18/2017

Date Study Added to alsconsortium.org:

12/13/2015
  • Eligibility Criteria

    Gender:

    Female, Male

    Minimum Age:

    18

    Maximum Age:

    N/A

    Time since Symptom Onset:

    N/A

    Time since Diagnosis:

    N/A

    Can participants use Riluzole?

    Yes


    1. Age 18 or older.
    2. Capable of providing informed consent and complying with trial procedures.
    3. Participants electing to undergo lumbar puncture must be medically able to undergo lumbar puncture (LP) as determined by the investigator (ie: no bleeding disorder, allergy to local anesthetics, a skin infection at or near the LP site, or evidence of high intracranial pressure).

    Participants enrolling in the ALS/MND Group:
    4. Diagnosis of ALS according to EEC (possible, probable, probable with laboratory support, and definite) [28], or those with primary lateral sclerosis or progressive muscular atrophy diagnosed by a neurologist.

    Participants enrolling in the Asymptomatic ALS Gene Carrier Group:
    5. Documentation of the presence of a gene known to cause ALS in the absence of symptoms causing ALS.

    Exclusion Criteria
    1. In the clinical judgment of the Site Investigator, the participant would be unable to participate in the study.

    Participants electing to participate in the optional lumbar puncture:
    2. No known or suspected abnormal CSF pressure or intracranial/intraspinal tumors.
    3. No use of anticoagulant medication (eg. warfarin, dalteparin, enoxaparin, rivaroxaban, fondaparinux, dabigatran) that cannot be safely withheld until coagulation parameters have normalized prior to lumbar puncture and for up to a week following the lumbar puncture.
    4. No blood dyscrasia, abnormal bleeding diathesis, or the use of dialysis for renal failure.
    5. No positive pregnancy test for a woman of child-bearing potential.

    Participants enrolling in the Non-MND/ALS Comparison Group
    6. No diagnosis of ALS, PLS, or PMA and no known or documented ALS gene. (Individuals with ALS mimics or other neurological diseases (including polio or Kennedy™s disease) are permitted to enroll in this Comparison Group.)

    Individuals participating in other clinical research studies will be eligible to participate in this study.

  • Site Contact Information

    Hospital for Special Care
    Amy Johndro / .(JavaScript must be enabled to view this email address) / 860-827-1958 ext. 3499
    2150 Corbin Avenue
    New Britain, Connecticut 06053
    United States

    Johns Hopkins University
    Kristen Riley / .(JavaScript must be enabled to view this email address) / 410-955-8511
    601 N. Caroline Stree601 N. Caroline Street
    Baltimore, Maryland 21287
    United States

    Massachusetts General Hospital
    Connor Freeh / .(JavaScript must be enabled to view this email address) / 617-726-4282
    165 Cambridge Street
    Boston, Massachusetts 02114
    United States

    Beth Israel Deaconess Medical Center
    Hilda Gutierrez / .(JavaScript must be enabled to view this email address) / 617-667-3502
    330 Brookline Ave.
    Bostong, Massachusetts 02215
    United States

    University of Massachuetts Medical
    Catherine Douthwright, PhD / .(JavaScript must be enabled to view this email address) / 508-856-6491
    UMMS 55 Lake Ave. North
    Worcester, Massachusetts 01655
    United States

    Washington University School of Medicine
    Caroline Drain / .(JavaScript must be enabled to view this email address) / 314-747-9501
    660 South Euclid Ave.
    St. Louis, Missouri 63110
    United States

    Dartmouth-Hitchcock Medical Center
    Faith Alexandre / .(JavaScript must be enabled to view this email address) / 603-650-4241
    1 Medical Center Drive
    Lebanon, New Hampshire 03576
    United States

    Wake Forest University Health Sciences
    Mozdeh Marandi / .(JavaScript must be enabled to view this email address) / 336-713-8577
    Wake Forest University Baptist Medical Center
    Winston-Salem, North Carolina 27157
    United States

    Oregon Health & Science University
    Diana Dimitrova / .(JavaScript must be enabled to view this email address) / 503-494-7269
    Dept. Neurology
    Portland, Oregon 97239
    United States

    Penn State Milton S. Hershey Medical Center
    Anne Morris; Jen Crossen / .(JavaScript must be enabled to view this email address) / 717-531-0003 ext. 289123; 717-531-0003 ext.280842
    30 Hope Drive
    Hershey, Pennsylvania 17033
    United States

    Vanderbilt University Medical Center
    Diana Davis / .(JavaScript must be enabled to view this email address) / 615-322-8957
    1161 21st Ave South, Medical Center North
    Nashville, Tennessee 37232
    United States

    University of Virginia Health System
    Amruta Joshi / .(JavaScript must be enabled to view this email address) / 434-982-0293
    1215 Lee Street
    Charlotsville, Virginia 22908
    United States

    University of Washington Medical Center
    Susan Strom / .(JavaScript must be enabled to view this email address) / 206-685-2028
    1959 NE Pacific Street
    Seattle, Washington 98195
    United States

    Medical College of Wisconsin
    Lynn Wheeler / .(JavaScript must be enabled to view this email address) / 414-805-9307
    Froedtert Hospital
    Milwaukee, Wisconsin 53226
    United States