Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
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).
Thus far, one gene has been identified that is responsible for about 20% of all cases of familial ALS (FALS). That gene is the SOD1 (superoxide dismutase) gene. Another 12 or more other genes have now been identified that are responsible for another 40-50% of familial cases. However, for about 30% 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, such as SOD1, FUS/TLS, TDP-43, C9orf72 and others as the investigators study these genes further.
Amyotrophic Lateral Sclerosis
Motor Neuron Disease
Lou Gehrigs Disease
Amyotrophic Lateral Sclerosis, Sporadic
|Study Design:||Time Perspective: Prospective|
|Official Title:||Family Studies in Neuromuscular Disorders|
- identification of new genes that may contribute to ALS [ Time Frame: 2018 ] [ Designated as safety issue: No ]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
DNA(plus Serum, frozen cells when available) will be obtained from the initial blood or saliva sample for genetic study.
|Study Start Date:||January 2009|
|Estimated Study Completion Date:||October 2018|
|Estimated Primary Completion Date:||October 2018 (Final data collection date for primary outcome measure)|
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.
Participants will be asked to provide a blood 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.
|Contact: Diane McKenna-Yasek, RN BSNfirstname.lastname@example.org|
|United States, Massachusetts|
|University of Massachusetts Medical School||Recruiting|
|Worcester, Massachusetts, United States, 01655|
|Contact: Diane M McKenna-Yasek, RN, BSN 508-856-4697 email@example.com|
|Principal Investigator:||Robert H Brown Jr., D Phil,MD||U Mass Medical School|