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

May 16, 2022 updated by: Robert Brown, University of Massachusetts, Worcester

Family Studies in Neuromuscular Disorders

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.

Study Overview

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 Type

Observational

Enrollment (Anticipated)

6000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Massachusetts
      • Worcester, Massachusetts, United States, 01655
        • University of Massachusetts Medical School

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Individuals diagnosed with ALS, motor neuron disease, PLS, ALS with dementia, Miyoshi Myopathy, some muscular dystrophies and spouse/population controls. Some family members may be eligible to participate as well.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
identification of new genes that may contribute to ALS
Time Frame: 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.
Up to 9 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Robert H Brown Jr., D Phil,MD, U Mass Medical School

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2009

Primary Completion (ANTICIPATED)

October 1, 2024

Study Completion (ANTICIPATED)

October 1, 2024

Study Registration Dates

First Submitted

October 21, 2011

First Submitted That Met QC Criteria

October 24, 2011

First Posted (ESTIMATE)

October 25, 2011

Study Record Updates

Last Update Posted (ACTUAL)

May 23, 2022

Last Update Submitted That Met QC Criteria

May 16, 2022

Last Verified

May 1, 2022

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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