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

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

• Registration Number: NCT01459302
• Lead Sponsor: University of Massachusetts, Worcester

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 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

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.

Study Timeline

• Study Start: 2009-01
• Study First Submitted: 2011-10-21
• Study First Submitted QC: 2011-10-24
• Study First Posted: 2011-10-25
• Status Verified: 2022-05
• Last Update Submitted: 2022-05-16
• Last Update Posted: 2022-05-23
• Primary Completion: 2024-10
• Study Completion: 2024-10

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 6000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
identification of new genes that may contribute to ALS	Up to 9 years	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.

Trial Locations

Locations (1)

University of Massachusetts Medical School; 🇺🇸 Worcester, Massachusetts, United States