MedTrace Logo

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

NCT01459302 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2024-09-19

No results posted yet for this study

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.

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

Sponsors & Collaborators

  • University of Massachusetts, Worcester

    lead OTHER

Principal Investigators

  • Robert H Brown Jr., D Phil,MD · U Mass Medical School

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-01-31
Primary Completion
2024-10-31
Completion
2024-10-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01459302 on ClinicalTrials.gov