Cross-Sectional ALS Biofluid Biomarker (CABB) Study
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, Asymptomatic ALS Gene Carrier
Study Type:Observational Study
Study Chair(s)/Principal Investigator(s):
James D. Berry, MD, MPH (Massachusetts General Hospital)
Clinicaltrials.gov ID (11 digit #):
Coordinating Center Contact InformationMassachusetts General Hospital (NCRI)
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
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:12/31/2018
Posting Last Modified Date:01/11/2018
Date Study Added to alsconsortium.org:12/13/2015
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) , 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.
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
2150 Corbin Avenue
New Britain, Connecticut 06053
Johns Hopkins University
601 N. Caroline Stree601 N. Caroline Street
Baltimore, Maryland 21287
Massachusetts General Hospital
165 Cambridge Street
Boston, Massachusetts 02114
Beth Israel Deaconess Medical Center
330 Brookline Ave.
Bostong, Massachusetts 02215
University of Massachuetts Medical
UMMS 55 Lake Ave. North
Worcester, Massachusetts 01655
Washington University School of Medicine
660 South Euclid Ave.
St. Louis, Missouri 63110
Dartmouth-Hitchcock Medical Center
1 Medical Center Drive
Lebanon, New Hampshire 03576
Wake Forest University Health Sciences
Wake Forest University Baptist Medical Center
Winston-Salem, North Carolina 27157
Oregon Health & Science University
Portland, Oregon 97239
Penn State Milton S. Hershey Medical Center
30 Hope Drive
Hershey, Pennsylvania 17033
Vanderbilt University Medical Center
1161 21st Ave South, Medical Center North
Nashville, Tennessee 37232
University of Virginia Health System
1215 Lee Street
Charlotsville, Virginia 22908
University of Washington Medical Center
1959 NE Pacific Street
Seattle, Washington 98195
Medical College of Wisconsin
Milwaukee, Wisconsin 53226