Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism
Study Purpose:
The investigators long term goals are to improve diagnosis and develop effective treatments that arrest or ameliorate symptoms of ALS, and possibly delay or prevent disease onset in individuals at risk for developing familial ALS (FALS)
Disease:
Amyotrophic Lateral Sclerosis (ALS), Familial ALS, Sporadic ALS, Primary Lateral Sclerosis (PLS), Healthy Volunteer with a Family History of ALSStudy Type:
Observational StudyStudy Category:
Biomarkers/ImagingStudy Status:
Active, currently recruitingPhase:
Not ApplicableStudy Chair(s)/Principal Investigator(s):
Teepu Siddique, MD (Northwestern University)
Clinicaltrials.gov ID (11 digit #):
NCT00821132Neals Affiliated?
NoCoordinating Center Contact Information
Northwestern University Feinberg School of MedicineNailah Siddique, RN MSN / .(JavaScript must be enabled to view this email address) / 312 503 2712
.(JavaScript must be enabled to view this email address) Chicago, Illinois 60611 United States
Full Study Summary:
The investigators long term goals are to improve diagnosis and develop effective treatments that arrest or ameliorate symptoms of ALS, and possibly delay or prevent disease onset in individuals at risk for developing familial ALS (FALS). In order to do this one must understand how disease develops at a molecular level. Identification of genes that increase risk for developing all types of ALS will reveal the pathways of molecular events that are involved in ALS.
The investigators are collecting blood samples, family and medical histories of patients with all types of ALS, (familial and sporadic, with and without frontotemporal dementia, and primary lateral sclerosis and particular family members.) Samples are coded to maintain confidentiality. Travel is not necessary.
As well as seeking to identify new genes implicated in ALS, the investigators continue our study of families with SOD1-ALS to more fully characterize that disease mechanism.
Linkage analysis and affected relative pair analysis will be used to identify causative FALS genes and disequilibrium analysis and association studies are being done for sporadic ALS.
Results from these studies will provide insight into the underlying disease mechanisms of ALS and provide targets for therapeutic interventions.