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 Category:

Other

Study Status:

Closed

Phase:

Not Applicable

Study Chair(s)/Principal Investigator(s):

Dr. Timothy Miller, MD, PhD (Washington University in St. Louis)

Clinicaltrials.gov ID (11 digit #):

Neals Affiliated?

Yes

Coordinating Center Contact Information

Washington University in St. Louis
Jennifer Jockel-Balsarotti / .(JavaScript must be enabled to view this email address) / (314) 362-8624
.(JavaScript must be enabled to view this email address) 660 S. Euclid Ave
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:
Gender
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.

Study Sponsor:

Muscular Dystrophy Association

Participant Duration:

n/a

Estimated Enrollment:

200

Estimated Study Start Date:

06/30/2012

Estimated Study Completion Date:

06/30/2014

Posting Last Modified Date:

12/31/2015

Date Study Added to alsconsortium.org:

07/23/2013
  • Eligibility Criteria

    Gender:

    Female, Male

    Minimum Age:

    18

    Maximum Age:

    N/A

    Time since Symptom Onset:

    N/A

    Time since Diagnosis:

    N/A

    Can participants use Riluzole?

    Yes


    Subjects diagnosed with SOD1 Familial ALS

  • Site Contact Information

    Washington University in St. Louis
    Jennifer Jockel-Balsarotti / .(JavaScript must be enabled to view this email address) / (314) 362-8624
    660 S. Euclid Ave
    St. Louis, Missouri 63110
    United States