Genetics of Familial and Sporadic ALS

Study Overview
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Brief Summary
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We are collecting blood samples, clinical and family information from ALS (amyotrophic lateral sclerosis) patients and their families to identify causes of ALS and ALS/dementia.

Detailed Description
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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.

Official Title
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Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.

Conditions
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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)

Intervention / Treatment
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* Other: Genetic study of ALS families


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with Amyotrophic Lateral Sclerosis or ALS and frontotemporal dementia Selected family members, generally brothers and sisters of an ALS patient, the patient's parents Exclusion Criteria: Under 18 years old

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| ALS families<br>Patients with either inherited or sporadic ALS or PLS and selected family members | Other: Genetic study of ALS families<br>* Collection and analysis of genetic material, medical and family histories from families with ALS<br>* Other names: Amyotrophic lateral sclerosis;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of genes that increase risk for sporadic ALS or cause inherited ALS. | 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. | Dec 2025 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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ALS, FALS, ALS/FTD, SALS, MND, PLS