Amyotrophic Lateral Sclerosis Clinical Trial
Official title:
Family Studies in Neuromuscular Disorders
Verified date | May 2022 |
Source | University of Massachusetts, Worcester |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Enrolling by invitation |
Enrollment | 6000 |
Est. completion date | October 2024 |
Est. primary completion date | October 2024 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | N/A and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
United States | University of Massachusetts Medical School | Worcester | Massachusetts |
Lead Sponsor | Collaborator |
---|---|
University of Massachusetts, Worcester |
United States,
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* Note: There are 16 references in all — Click here to view all references
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 |
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