Genetics of Familial and Sporadic ALS (ALS)
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|ClinicalTrials.gov Identifier: NCT00821132|
Recruitment Status : Completed
First Posted : January 13, 2009
Last Update Posted : January 26, 2023
|Condition or disease||Intervention/treatment|
|Amyotrophic Lateral Sclerosis (ALS) Familial Amyotrophic Lateral Sclerosis ALS With Frontotemporal Dementia (ALS/FTD) Lou Gehrig's Disease Motor Neuron Disease (MND) Primary Lateral Sclerosis (PLS) Sporadic ALS (SALS)||Other: Genetic study of ALS families|
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 known genetic mutations 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.
|Study Type :||Observational|
|Actual Enrollment :||13521 participants|
|Official Title:||Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.|
|Actual Study Start Date :||January 1991|
|Actual Primary Completion Date :||January 2023|
|Actual Study Completion Date :||January 2023|
Patients with either inherited or sporadic ALS or PLS and selected family members
Other: Genetic study of ALS families
Collection and analysis of genetic material, medical and family histories from families with ALS
- Identification of genes that increase risk for sporadic ALS or cause inherited ALS. [ Time Frame: Dec 2025 ]Study of each identified gene will help us understand the molecular events that produce different types of ALS. This will aid in identification of markers that may be associated with each type which will assist with diagnosis and may provide targets for rational therapy.
Biospecimen Retention: Samples With DNA
Whole blood and/or skin and cerebrospinal fluid (CSF) samples
The investigators also collect brain and spinal cord tissue specimens.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00821132
|United States, Illinois|
|Northwestern University Feinberg School of Medicine|
|Chicago, Illinois, United States, 60611|
|Principal Investigator:||Teepu Siddique, MD||Northwestern University Feinberg School of Medicine|