Trial record 15 of 83 for:    Open Studies | "Amyotrophic Lateral Sclerosis"

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

This study is currently recruiting participants.
Verified December 2013 by University of Massachusetts, Worcester
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Robert Brown, University of Massachusetts, Worcester
ClinicalTrials.gov Identifier:
NCT01459302
First received: October 21, 2011
Last updated: December 16, 2013
Last verified: December 2013
  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.


Condition
Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
PLS
Motor Neuron Disease
Lou Gehrigs Disease
Familial Disease
Amyotrophic Lateral Sclerosis, Sporadic

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: 2018 ] [ 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.


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)
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.

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.

  Eligibility

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, and spouse/population controls. Some family members may be eligible to participate as well.

Criteria

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01459302

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

Locations
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
Investigators
Principal Investigator: Robert H Brown Jr., D Phil,MD U Mass Medical School
  More Information

Publications:
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. Epub 2009 Sep 6.

Responsible Party: Robert Brown, Chair, Neurology, University of Massachusetts, Worcester
ClinicalTrials.gov Identifier: NCT01459302     History of Changes
Other Study ID Numbers: H-13019, 5RC2NS070342-02
Study First Received: October 21, 2011
Last Updated: December 16, 2013
Health Authority: United States: Federal Government

Keywords provided by University of Massachusetts, Worcester:
FALS
ALS
SALS
MND
SOD1
ALS GENES
PLS
PMA
ALS/FTD
FAMILIAL ALS
SPORADIC ALS
GENETICS
FTD

Additional relevant MeSH terms:
Amyotrophic Lateral Sclerosis
Dementia
Neuromuscular Diseases
Sclerosis
Motor Neuron Disease
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Genetic Diseases, Inborn
Spinal Cord Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurodegenerative Diseases
TDP-43 Proteinopathies
Proteostasis Deficiencies
Metabolic Diseases
Brain Diseases
Delirium, Dementia, Amnestic, Cognitive Disorders
Mental Disorders
Pathologic Processes
Frontotemporal Lobar Degeneration
Aphasia
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms

ClinicalTrials.gov processed this record on April 17, 2014