Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
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|ClinicalTrials.gov Identifier: NCT01459302|
Recruitment Status : Recruiting
First Posted : October 25, 2011
Last Update Posted : November 15, 2019
The investigators laboratory has been studying families with a history of ALS for more than 25 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 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.
|Condition or disease|
|Amyotrophic Lateral Sclerosis Frontotemporal Dementia PLS Motor Neuron Disease Lou Gehrigs Disease Familial Disease Amyotrophic Lateral Sclerosis, Sporadic Muscular Dystrophy Miyoshi Myopathy Amyotrophic Lateral Sclerosis With Dementia|
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 and some environmental risk factors. Medical records will be requested 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.
|Study Type :||Observational|
|Estimated Enrollment :||6000 participants|
|Official Title:||Family Studies in Neuromuscular Disorders|
|Study Start Date :||January 2009|
|Estimated Primary Completion Date :||October 2021|
|Estimated Study Completion Date :||October 2021|
Familial and Sporadic ALS
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.
- identification of new genes that may contribute to ALS [ Time Frame: Up to 9 years ]identification and reporting of any new genes that may associated with individuals or families with ALS is a primary goal to provide better diagnostics as well as new targets for treatment.
Biospecimen Retention: Samples With DNA
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): NCT01459302
|Contact: Diane McKenna-Yasek, RN BSNemail@example.com|
|United States, Massachusetts|
|University of Massachusetts Medical School||Recruiting|
|Worcester, Massachusetts, United States, 01655|
|Contact: Diane M McKenna-Yasek, RN, BSN 508-856-4697 firstname.lastname@example.org|
|Principal Investigator:||Robert H Brown Jr., D Phil,MD||U Mass Medical School|