The Natural History of SOD1 Amyotrophic Lateral Sclerosis
Study Purpose:The purpose of this study is to collect survival data on every eligible subject with Familial Amyotrophic Lateral Sclerosis (ALS) and rate the disease progression where available in order to define the natural history of familial ALS in patients with SOD1 mutations.
Disease:Amyotrophic Lateral Sclerosis (ALS), Familial ALS
Study Type:Observational Study
Study Chair(s)/Principal Investigator(s):Dr. Timothy Miller, MD, PhD (Washington University in St. Louis)
Clinicaltrials.gov ID (11 digit #):
Coordinating Center Contact InformationWashington University in St. Louis
St. Louis, Missouri 63110 United States
Full Study Summary:This is a retrospective survey of historical information stored within Familial Amyotrophic Lateral Sclerosis (ALS) patient medical records at ALS Clinical Centers in the US. Our goal is to collect survival data on every eligible subject and rate of disease progression where available in order to define the natural history of familial ALS. We will collect data on all familial ALS cases with a special emphasis on SOD1 mutations. The SOD1A4V patients that have a relatively homogeneous decline and represent 50% of the SOD1 mutations in the United States will be the major focus of analysis.
Using standardized collection form, the following data will be collected:
Genetic Mutation (if known)
Month/year of birth
Month/year of symptom onset
Month/year of death
Month/year of permanent ventilation (if applicable)
ALS-FRS at all time points where available (At least two points needed for statistical analysis).
FVC at all time points where available (At least two points needed for statistical analysis).
First three digits of subject zip code
This collection will be done by retrospective chart review.