Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS
1 other identifier
observational
128
2 countries
8
Brief Summary
This research study is being performed to better understand a specific form of Amyotrophic Lateral Sclerosis (ALS) caused by a mutation (or abnormality) of the C9ORF72 gene. This mutation is the most common genetic cause of ALS, and is present in 40% of ALS patients with a family history of ALS and 5-10% of ALS patients without a family history of ALS.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Feb 2015
Typical duration for all trials
8 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 1, 2015
CompletedFirst Submitted
Initial submission to the registry
February 11, 2016
CompletedFirst Posted
Study publicly available on registry
February 19, 2016
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2017
CompletedStudy Completion
Last participant's last visit for all outcomes
October 2, 2018
CompletedJuly 8, 2021
July 1, 2021
2.9 years
February 11, 2016
July 2, 2021
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Collection of clinical data and biomarker samples
The primary outcome measures will be the collection of clinical data (ALSFRS, ALS-CBS and SVC) to determine rates of disease progression and collection of biomarkers samples (blood, CSF) to be correlated with the clinical measures.
December 2017
Secondary Outcomes (1)
Correlation of repeat expansion size with clinical outcome measures and determination of C9ORF72 patients eligibility for clinical trials
December 2017
Study Arms (1)
Individuals diagnosed with known positive C9ORF72 ALS
Individuals diagnosed with known positive C9ORF72 ALS
Eligibility Criteria
Known positive C9ORF72 ALS status upon enrollment
You may qualify if:
- Males or females of any race aged 18 or older
- Known positive C9ORF72 ALS status via CLIA-certified lab results.
- Capable of providing informed consent and following study procedures. In the event that an individual lacks the ability to provide informed consent, informed consent may be sought from the individual's legal, surrogate representative.
- Geographically accessible to the site.
You may not qualify if:
- Geographically inaccessible to the site
- C9ORF72 ALS negative via CLIA-certified lab results
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Washington University School of Medicinelead
- Cedars-Sinai Medical Centercollaborator
- UMC Utrechtcollaborator
- Johns Hopkins Universitycollaborator
- Massachusetts General Hospitalcollaborator
- University of Massachusetts, Amherstcollaborator
- Biogencollaborator
- ALS Associationcollaborator
- Columbia Universitycollaborator
Study Sites (8)
Cedars Sinai Medical Center
Los Angeles, California, 90048, United States
Johns Hopkins
Baltimore, Maryland, 21287, United States
University of Massachusetts
Amherst, Massachusetts, 01003, United States
Massachusetts General Hospital
Boston, Massachusetts, 02114, United States
Washington University in St. Louis
St Louis, Missouri, 63110, United States
Columbia University Medical Center
New York, New York, 10027, United States
Sentara Health Care / Sentara Neurology Specialists
Virginia Beach, Virginia, 23454, United States
UMC Utrecht
Utrecht, Netherlands
Related Publications (1)
Cammack AJ, Atassi N, Hyman T, van den Berg LH, Harms M, Baloh RH, Brown RH, van Es MA, Veldink JH, de Vries BS, Rothstein JD, Drain C, Jockel-Balsarotti J, Malcolm A, Boodram S, Salter A, Wightman N, Yu H, Sherman AV, Esparza TJ, McKenna-Yasek D, Owegi MA, Douthwright C; Alzheimer's Disease Neuroimaging Initiative; McCampbell A, Ferguson T, Cruchaga C, Cudkowicz M, Miller TM. Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers. Neurology. 2019 Oct 22;93(17):e1605-e1617. doi: 10.1212/WNL.0000000000008359. Epub 2019 Oct 2.
PMID: 31578300BACKGROUND
Biospecimen
Whole blood (DNA, Southern Blots), Serum, PBMCs (for reprogramming into iPSCs), and Cerebral Spinal Fluid (CSF)
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Timothy M Miller, MD, PhD
Washington University School of Medicine
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- David Clayson Professor of Neurology
Study Record Dates
First Submitted
February 11, 2016
First Posted
February 19, 2016
Study Start
February 1, 2015
Primary Completion
December 31, 2017
Study Completion
October 2, 2018
Last Updated
July 8, 2021
Record last verified: 2021-07
Data Sharing
- IPD Sharing
- Will not share
The study design has a robust plan to share de-identified data (but personally identifiable data will not be shared). When study information is shared, it will be "de-identified", meaning that the study will remove all personal identifiers so that all collected data and samples are stored under a unique subject ID study code ("coded"). In other words, the study has been designed to keep personal details separate from all samples and study information. The results of this trial will be published in peer-reviewed journals. No personal identifiers will be included.