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

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2016 by University of Massachusetts, Worcester
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of Massachusetts, Worcester Identifier:
First received: October 21, 2011
Last updated: February 8, 2016
Last verified: February 2016

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.

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

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Family Studies in Neuromuscular Disorders

Resource links provided by NLM:

Further study details as provided by University of Massachusetts, Worcester:

Primary Outcome Measures:
  • identification of new genes that may contribute to ALS [ Time Frame: Up to 9 years ] [ Designated as safety issue: No ]
    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.

Estimated Enrollment: 6000
Study Start Date: January 2009
Estimated Study Completion Date: October 2018
Estimated Primary Completion Date: October 2018 (Final data collection date for primary outcome measure)
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.

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.


Genders Eligible for Study:   Both
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01459302

Contact: Diane McKenna-Yasek, RN BSN 508-856-4697

United States, Massachusetts
University of Massachusetts Medical School Recruiting
Worcester, Massachusetts, United States, 01655
Contact: Diane M McKenna-Yasek, RN, BSN    508-856-4697   
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
  More Information

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 Identifier: NCT01459302     History of Changes
Other Study ID Numbers: H-13019  5RC2NS070342-02 
Study First Received: October 21, 2011
Last Updated: February 8, 2016
Health Authority: United States: Federal Government

Keywords provided by University of Massachusetts, Worcester:
Miyoshi myopathy

Additional relevant MeSH terms:
Amyotrophic Lateral Sclerosis
Aphasia, Primary Progressive
Distal Myopathies
Frontotemporal Dementia
Motor Neuron Disease
Muscular Atrophy
Muscular Diseases
Muscular Dystrophies
Neuromuscular Diseases
Pick Disease of the Brain
Brain Diseases
Central Nervous System Diseases
Communication Disorders
Frontotemporal Lobar Degeneration
Genetic Diseases, Inborn
Language Disorders
Mental Disorders
Metabolic Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neurobehavioral Manifestations
Neurocognitive Disorders
Neurodegenerative Diseases
Neurologic Manifestations
Neuromuscular Manifestations processed this record on May 24, 2016