Ignite Creation Date:
2024-05-05 @ 11:57 PM
Last Modification Date:
2024-10-26 @ 10:42 AM
Study NCT ID:
NCT01459302
Status:
WITHDRAWN
Last Update Posted:
2022-05-23
First Post:
2011-10-21
Brief Title:
Genetic Study of Familial and Sporadic ALSMotor Neuron Disease Miyoshi Myopathy and Other Neuromuscular Disorders
Sponsor:
University of Massachusetts Worcester
Organization:
University of Massachusetts Worcester
Study Overview
Official Title:
Family Studies in Neuromuscular Disorders
Status:
WITHDRAWN
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
This study is not a clinical trial
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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 dementiaALSFTD 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 genes are still unknown
The investigators also will continue to work with families already identified to carry one of the known genes associated with ALS
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 dementiaALSFTD 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 genes 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:
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None