Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders

Study Overview
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Brief Summary
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The investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. This includes all forms of ALS, motor neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms of muscular dystrophy by looking at the genes that may be associated with them. There have been a number of genes identified that are associated with both familial and sporadic ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for about 25% of families with FALS, the gene(s) are still unknown. The investigators also will continue to work with families already identified to carry one of the known genes associated with ALS.

Detailed Description
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Participants will be asked to provide a blood sample ( or sometimes saliva or skin sample) and to complete a couple of questionnaires regarding their overall medical health. Medical records will need to be reviewed for all those diagnosed with one of the study diseases to allow the researchers to review details of their clinical disease symptoms, neurological exams and test results. Participants do not need to travel to Massachusetts for this study. Samples can be obtained locally at no costs to the participant. Family members may be included in the study depending on family history and their relationship to the affected individual.

Official Title
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Family Studies in Neuromuscular Disorders

Conditions
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PLS, Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Motor Neuron Disease, Lou Gehrigs Disease, Familial Disease, Amyotrophic Lateral Sclerosis, Sporadic, Muscular Dystrophy, Miyoshi Myopathy, Amyotrophic Lateral Sclerosis With Dementia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: diagnosis of or family history of ALS,MND,ALS with dementia, or PLS. diagnosis of Miyoshi myopathy willingness to provide a blood sample for study use Exclusion Criteria: unwilling to provide a blood or saliva sample
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 |
| --- | --- |
| Familial and Sporadic ALS<br>Individuals with ALS and families with a history of two or more people in the family who have had ALS or other forms of motor neuron disease. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| identification of new genes that may contribute to ALS | identification and reporting of any new genes that may be associated with individuals or families with ALS is a primary goal to provide better diagnostics as well as new targets for treatment. | Up to 9 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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MND, ALS, FALS, SALS, SOD1, ALS GENES, PLS, PMA, ALS/FTD, FAMILIAL ALS, SPORADIC ALS, GENETICS, FTD, Miyoshi myopathy