Family Studies in Neuromuscular Disorders

Study Purpose:

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.

Disease:

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:

Biomarkers/Imaging

Study Status:

Active, currently recruiting

Phase:

Not Applicable

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

Robert Brown,Jr., D Phil,MD (University of Massachusetts, Worcester)

Clinicaltrials.gov ID (11 digit #):

NCT01459302

Neals Affiliated?

No

Coordinating Center Contact Information

University of Massachusetts Medical School
Diane M McKenna-Yasek, RN, BSN / .(JavaScript must be enabled to view this email address) / 508-856-4697
.(JavaScript must be enabled to view this email address) Worcester, Massachusetts 01655 United States

Full Study Summary:

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).

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.

Study Sponsor:

National Institute of Neurological Disorders and Stroke (NINDS)

Participant Duration:

Estimated Enrollment:

6000

Estimated Study Start Date:

12/31/2008

Estimated Study Completion Date:

09/30/2018

Posting Last Modified Date:

02/29/2016

Date Study Added to alsconsortium.org:

11/03/2011
  • More Information

    Participants can include: Familial and Sporadic ALS, possibly some family members, and unrelated or spouse controls with no family history of ALS.

    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.

    For more information, please visit https://clinicalt...CT01459302&rank=1

  • Eligibility Criteria

    Gender:

    Female, Male

    Minimum Age:

    18

    Maximum Age:

    N/A

    Time since Symptom Onset:

    N/A

    Time since Diagnosis:

    N/A

    Can participants use Riluzole?


    Inclusion Criteria:
    •diagnosis of or family history of ALS,MND,ALS with dementia, or PLS.
    •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
    Diane M McKenna-Yasek, RN, BSN / .(JavaScript must be enabled to view this email address) / 508-856-4697
    Worcester, Massachusetts 01655
    United States