Clinical trial NCT01459302: Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
Official title: Family Studies in Neuromuscular Disorders
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
PLS
Motor Neuron Disease
Lou Gehrigs Disease
Familial Disease
Amyotrophic Lateral Sclerosis, Sporadic
Muscular Dystrophy
Miyoshi Myopathy
Amyotrophic Lateral Sclerosis With Dementia
Keywords: FALS
ALS
SALS
MND
SOD1
ALS GENES
PLS
PMA
ALS/FTD
FAMILIAL ALS
SPORADIC ALS
GENETICS
FTD
Miyoshi myopathy
Lead sponsor: University of Massachusetts, Worcester
Sponsor class: OTHER
First posted: 2011-10-25
Enrollment: 0
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
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.

Brief summary: The investigators laboratory has been studying families with a history of ALS for more than 30 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 with both familial and sporadic ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for about 25% 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. Medical records will need to be reviewed 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 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

Primary outcomes:
measure: identification of new genes that may contribute to ALS
timeFrame: Up to 9 years
Secondary outcomes:
Other outcomes:
Locations:
city: Worcester
country: United States
facility: University of Massachusetts Medical School
state: Massachusetts
Study officials:
affiliation: U Mass Medical School
name: Robert H Brown Jr., D Phil,MD
role: PRINCIPAL_INVESTIGATOR
References:
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