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.
Study Status:
Not recruiting
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 , Presymptomatic ALS Gene Carrier
Study Type:
Observational
Type of Intervention:
N/A
Intervention Name:
N/A
Placebo:
N/A
Phase:
N/A
Study Chair(s)/Principal Investigator(s):
James D. Berry, MD, MPH (Massachusetts General Hospital)
Clinicaltrials.gov ID:
Neals Affiliated?
Yes
Coordinating Center Contact Information
Massachusetts General Hospital (NCRI)
Armineuza Evora / email hidden; JavaScript is required / 617-724-5984
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), optional 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/Presymptomatic subjects; Subjects may be contacted periodically thereafter for follow-up.
Estimated Enrollment:
up to 1,000
Estimated Study Start Date:
11 / 03 / 2015
Estimated Study Completion Date:
08 / 31 / 2018
Posting Last Modified Date:
11 / 09 / 2018
Date Study Added to neals.org:
12 / 13 / 2015
Minimum Age:
18
Can participants use Riluzole?
Yes
Inclusion Criteria
1. Age 18 or older.
2. Capable of providing informed consent and complying with trial procedures.
Participants enrolling in the ALS/MND Group:
3. 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:
4. Documentation of the presence of a gene known to cause ALS in the absence of symptoms causing ALS.
Participants electing to participate in the optional lumbar puncture:
5. 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).
Exclusion Criteria
1. In the clinical judgment of the Site Investigator, the participant would be unable to participate in the study.
Participants enrolling in the Non-MND/ALS Comparison Group
2. 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.)
Participants electing to participate in the optional lumbar puncture:
3. No known or suspected abnormal CSF pressure or intracranial/intraspinal tumors.
4. 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.
5. No blood dyscrasia, abnormal bleeding diathesis, or the use of dialysis for renal failure.
6. No positive pregnancy test for a woman of child-bearing potential.
Individuals participating in other clinical research studies will be eligible to participate in this study.
Hospital for Special Care
Dr. Koczon-Jaremko / 860-612-6356 / email hidden; JavaScript is required
New Britain, Connecticut
06053
United States
George Washington Medical Center
Pooja Rajadhyaksha / 202-741-2717 / email hidden; JavaScript is required
Washington, District of Columbia
20037
United States
University of Louisville
Angela Siegwald / 502-852-2043 / email hidden; JavaScript is required
Louisville, Kentucky
40202
United States
Johns Hopkins University
Kristen Riley / 410-955-8511 / email hidden; JavaScript is required
Baltimore, Maryland
21287
United States
Beth Israel Deaconess Medical Center
Hilda Gutierrez / 617-667-3502 / email hidden; JavaScript is required
Boston, Massachusetts
02215
United States
Massachusetts General Hospital
Bri Dedi / 617-726-4284 / email hidden; JavaScript is required
Boston, Massachusetts
02114
United States
University of Massachuetts Medical
Catherine Douthwright, PhD / 508-856-6491 / email hidden; JavaScript is required
Worcester, Massachusetts
01655
United States
Washington University School of Medicine
Jesse Markway / 314-243-1697 / email hidden; JavaScript is required
St. Louis, Missouri
63110
United States
Dartmouth-Hitchcock Medical Center
Nicholas Streltzov / 603-650-4506 / email hidden; JavaScript is required
Lebanon, New Hampshire
03576
United States
Wake Forest University Health Sciences
Mozdeh Marandi / 336-713-8577 / email hidden; JavaScript is required
Winston-Salem, North Carolina
27157
United States
Oregon Health State University
Diana Dimitrova / 503-494-7269 / email hidden; JavaScript is required
Portland, Oregon
97239
United States
Penn State Milton S. Hershey Medical Center
Jen Crossen / 717-531-0003 ext.280842 / email hidden; JavaScript is required
Hershey, Pennsylvania
17033
United States
Temple University
Kathleen Hatala / 215-707-4171 / email hidden; JavaScript is required
Philadelphia, Pennsylvania
19140
United States
Vanderbilt University Medical Center
Diana Davis / 615-322-8957 / email hidden; JavaScript is required
Nashville, Tennessee
37232
United States
University of Washington Medical Center
Susan Strom / 206-685-2028 / email hidden; JavaScript is required
Seattle, Washington
98195
United States
Medical College of Wisconsin
Lynn Wheeler / 414-805-9307 / email hidden; JavaScript is required
Milwaukee, Wisconsin
53226
United States