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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 : September 7, 2018
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Robert Brown, University of Massachusetts, Worcester

Tracking Information
First Submitted Date October 21, 2011
First Posted Date October 25, 2011
Last Update Posted Date September 7, 2018
Study Start Date January 2009
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 31, 2015)
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.
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT01459302 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
Official Title Family Studies in Neuromuscular Disorders
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.

Detailed Description

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 Type Observational
Study Design Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
DNA(plus Serum, plasma, 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.
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.
Condition
  • Amyotrophic Lateral Sclerosis
  • Frontotemporal Dementia
  • PLS
  • Motor Neuron Disease
  • Lou Gehrigs Disease
  • Familial Disease
  • Amyotrophic Lateral Sclerosis, Sporadic
  • Muscular Dystrophy
  • Miyoshi Myopathy
Intervention Not Provided
Study Groups/Cohorts 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.
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: October 24, 2011)
6000
Original Estimated Enrollment Same as current
Estimated Study Completion Date October 2020
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts
Contact: Diane McKenna-Yasek, RN BSN 508-856-4697 diane.mckenna-yasek@umassmed.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01459302
Other Study ID Numbers H-13019
5RC2NS070342-02 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party Robert Brown, University of Massachusetts, Worcester
Study Sponsor University of Massachusetts, Worcester
Collaborators National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Robert H Brown Jr., D Phil,MD U Mass Medical School
PRS Account University of Massachusetts, Worcester
Verification Date September 2018