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

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ClinicalTrials.gov 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

Brief Summary:

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.

Condition or disease
Amyotrophic Lateral Sclerosis Frontotemporal Dementia PLS Motor Neuron Disease Lou Gehrigs Disease Familial Disease Amyotrophic Lateral Sclerosis, Sporadic Muscular Dystrophy Miyoshi Myopathy

Detailed Description:

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.

Study Type : Observational
Estimated Enrollment : 6000 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Family Studies in Neuromuscular Disorders
Study Start Date : January 2009
Estimated Primary Completion Date : October 2018
Estimated Study Completion Date : October 2018

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.

Primary Outcome Measures :
  1. 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.

Biospecimen 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01459302

Contact: Diane McKenna-Yasek, RN BSN 508-856-4697 diane.mckenna-yasek@umassmed.edu

United States, Massachusetts
University of Massachusetts Medical School Recruiting
Worcester, Massachusetts, United States, 01655
Contact: Diane M McKenna-Yasek, RN, BSN    508-856-4697    diane.mckenna-yasek@umassmed.edu   
Sponsors and Collaborators
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

van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6.

Responsible Party: University of Massachusetts, Worcester
ClinicalTrials.gov Identifier: NCT01459302     History of Changes
Other Study ID Numbers: H-13019
5RC2NS070342-02 ( U.S. NIH Grant/Contract )
First Posted: October 25, 2011    Key Record Dates
Last Update Posted: August 31, 2017
Last Verified: August 2017

Keywords provided by University of Massachusetts, Worcester:
Miyoshi myopathy

Additional relevant MeSH terms:
Communication Disorders
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Muscular Dystrophies
Muscular Diseases
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Neuromuscular Diseases
Muscular Atrophy
Distal Myopathies
Pathologic Processes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Neurodegenerative Diseases
Spinal Cord Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Genetic Diseases, Inborn
Frontotemporal Lobar Degeneration
Speech Disorders