Genetics of Familial and Sporadic ALS (ALS)
|Amyotrophic Lateral Sclerosis (ALS) Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia Lou Gehrig's Disease Motor Neuron Disease Primary Lateral Sclerosis||Other: Genetic study of ALS families|
|Study Design:||Observational Model: Family-Based|
|Official Title:||Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.|
- Identification of genes that increase risk for sporadic ALS or cause inherited ALS. [ Time Frame: Dec 2019 ]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 CSF samples
The investigators also collect brain and spinal cord tissue specimans.
|Study Start Date:||January 1991|
|Estimated Study Completion Date:||December 2022|
|Estimated Primary Completion Date:||December 2019 (Final data collection date for primary outcome measure)|
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
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00821132
|Contact: Nailah Siddique, RN MSN||312 503 firstname.lastname@example.org|
|Contact: Lisa Kinsley, MS CGC||312 503 email@example.com|
|United States, Illinois|
|Northwestern University Feinberg School of Medicine||Recruiting|
|Chicago, Illinois, United States, 60611|
|Principal Investigator: Teepu Siddique|
|Principal Investigator:||Teepu Siddique, MD||Northwestern University Feinberg School of Medicine, Division of Neuromuscular Medicine|