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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01459302
Recruitment Status : Recruiting
First Posted : October 25, 2011
Last Update Posted : August 31, 2017
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of Massachusetts, Worcester

October 21, 2011
October 25, 2011
August 31, 2017
January 2009
October 2018   (Final data collection date for primary outcome measure)
identification of new genes that may contribute to ALS [ Time Frame: Up to 9 years ]
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.
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Complete list of historical versions of study NCT01459302 on Archive Site
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Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
Family Studies in 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). 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 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.

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.

Observational Model: Other
Time Perspective: Prospective
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Retention:   Samples With DNA
DNA(plus Serum, frozen cells when available) will be obtained from the initial blood or saliva sample for genetic study. RNA, skin cells or lymphoblast cells may be obtained and stored.
Non-Probability Sample
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.
  • Amyotrophic Lateral Sclerosis
  • Frontotemporal Dementia
  • PLS
  • Motor Neuron Disease
  • Lou Gehrigs Disease
  • Familial Disease
  • Amyotrophic Lateral Sclerosis, Sporadic
  • Muscular Dystrophy
  • Miyoshi Myopathy
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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.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Same as current
October 2018
October 2018   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
Child, Adult, Older Adult
Contact: Diane McKenna-Yasek, RN BSN 508-856-4697
United States
5RC2NS070342-02 ( U.S. NIH Grant/Contract )
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University of Massachusetts, Worcester
University of Massachusetts, Worcester
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Robert H Brown Jr., D Phil,MD U Mass Medical School
University of Massachusetts, Worcester
August 2017