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

University of Massachusetts, Worcester

Status: Withdrawn

Conditions: Motor Neuron Disease; Frontotemporal Dementia; Amyotrophic Lateral Sclerosis With Dementia; Amyotrophic Lateral Sclerosis; Familial Disease; Muscular Dystrophy; Amyotrophic Lateral Sclerosis, Sporadic; Miyoshi Myopathy; Lou Gehrigs Disease; PLS

Study type: Observational

Funder types: Other

Identifiers

NCT01459302

H-13019

Details and patient eligibility

About

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.

Full 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.

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

0 participants in 1 patient group

Familial and Sporadic ALS

Description:

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.