Defining Clinical Characteristics in C9ORF72 ALS Patients
Study Purpose:
This research study is being done 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.
Disease:
Amyotrophic Lateral Sclerosis (ALS), Familial ALS, Sporadic ALSStudy Type:
Observational StudyStudy Category:
Natural HistoryStudy Status:
Not enrollingPhase:
Not ApplicableStudy Chair(s)/Principal Investigator(s):
Timothy M Miller, MD, PhD, Washington University School of Medicine
Clinicaltrials.gov ID (11 digit #):
NCT02686268Neals Affiliated?
YesCoordinating Center Contact Information
Washington University School of MedicineNeuromuscular Clinical Studies Line / .(JavaScript must be enabled to view this email address) / 314-362-6159
.(JavaScript must be enabled to view this email address) 660 S. Euclid Ave.
Box 8111
St. Louis, Missouri 63110 United States
Full Study Summary:
Individuals diagnosed with ALS, who are confirmed to carry the Chromosome 9 Open Reading Frame 72 (C9ORF72) gene mutation by CLIA-certified lab results, are eligible for enrollment. Researchers want to understand the natural history of C9ORF72 related ALS in terms of measures of rate of progression as well as understanding how the size of the hexanucleotide repeat expansion influences disease parameters. The investigators hope that the intense study of patients with the C9ORF72 mutation will ultimately help us develop treatments for this common form of ALS.
Objectives:
-Enroll a total of 120 C9orf72 ALS participants with known mutation at the time of enrollment.
-Determine the C9orf72 hexanucleotide repeat expansion size in all subjects
-Define ALS disease course
-Determine to what degree the disease course correlates with expansion size
-Collect biomarker samples (blood, DNA and CSF)
Study Sponsor:
Washington UniversityParticipant Duration:
18 months — 3 years
Given changes that may occur with a participants regular clinic visit appointments, the study visit timing of all bio-specimen collections (IDT testing, PBMCs, safety labs, Serum and Southern Blots) may be modified and/or may be scheduled to take place at a local hospital or doctor™s office for the participant's convenience. Each of these blood draws will take approximately 20 minutes. Remote Study Visits (via phone calls placed to participant's home) may take up to 1 hour .The screening visit will last 1 -2 hours
Study visit 2 and 4 - each visit will last approximately 2 to 3 hours if an LP is performed.
Study visit 3, 5, 6 and 7 - each visit will last approx. 1 -2 hours
In order for the project to gather important biomarker, natural history, and disease progression data throughout the course of the project, a modified Study Visit package of information will be re-collected approximately every three months (depending on health status) for a period of 18 months to 3 years