Family Studies in Neuromuscular Disorders

Study Purpose:

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). 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 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.


Amyotrophic Lateral Sclerosis (ALS),  Familial ALS,  Sporadic ALS, Primary Lateral Sclerosis (PLS), Healthy Volunteer, Healthy Volunteer with a Family History of ALS

Study Type:

Observational Study

Study Category:


Study Status:



Not Applicable

Study Chair(s)/Principal Investigator(s):

Robert Brown, Jr., D Phil, MD (University of Massachusetts, Worcester) ID (11 digit #):


Neals Affiliated?


Coordinating Center Contact Information

University of Massachusetts Medical School
Catherine Douthwright, PhD / .(JavaScript must be enabled to view this email address) / 774-441-7696
.(JavaScript must be enabled to view this email address) Worcester, Massachusetts 01655 United States

Full Study Summary:

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 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.

Study Sponsor:

National Institute of Neurological Disorders and Stroke (NINDS)

Participant Duration:

Estimated Enrollment:


Estimated Study Start Date:


Estimated Study Completion Date:


Posting Last Modified Date:


Date Study Added to

  • Eligibility Criteria


    Female, Male

    Minimum Age:


    Maximum Age:


    Time since Symptom Onset:


    Time since Diagnosis:


    Can participants use Riluzole?

    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.

    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

  • Site Contact Information

    University of Massachusetts Medical School
    Catherine Douthwright, PhD / .(JavaScript must be enabled to view this email address) / 774-441-7696
    Worcester, Massachusetts 01655
    United States