Trial Information

Summary: Investigative Studies on the Effect of Lowering SOD1 Levels in the SOD1 form of Familial Amyotrophic Lateral Sclerosis (FALS)

What is the purpose of this research study?
The familial (inherited) form of ALS may be caused by a mistake (mutation) in the gene that contains instructions for making the enzyme (a protein) superoxide dismutase 1 (SOD1). There is evidence from animal experiments that the drug we are investigating may repair the problems caused by the mutation by reducing the amount of SOD1. It is not known if the drug will be effective in people with FALS, or if this drug is safe to use in FALS patients.

This study is to determine if the study drug is safe and tolerable in patients with familial (inherited) amyotrophic lateral sclerosis (FALS). Another purpose of the study is to see if the study drug can lower the amount of SOD1 in a type of blood cell called lymphocytes. This is not a study to determine if the drug is effective in the treatment of FALS. Although the drug is approved by the FDA (Food and Drug Administration) for use in several conditions, it is not approved for the treatment of ALS or FALS.

Who can participate?
In order to be eligible, you must have a confirmed diagnosis of amyotrophic lateral sclerosis (ALS) and documentation of having the SOD1 genetic mutation. You must be 18 years of age or older. If you are taking Riluzole (Rilutek), you must be on the same dose for at least 30 days. If you are taking Co-Q10, you must be on the same dose and brand for at least 30 days.

What is done in this study?
The study will last 18 weeks (around 4 months) for each research participant. Participants will have to visit Mount Sinai Hospital ten (10) times and have frequent contact with the study team over the phone. Study visits include examinations by the study team, blood draws and one lumbar puncture, which is performed at the end of the study. A lumbar puncture is a procedure in which a needle is used to collect a small sample of the fluid surrounding your spine.

No Compensation Provided

Patient Inclusion/Exclusion Criteria:

Diagnosed with Familial form of ALS
Age 18 or older

Women who are pregnant, planning to become pregnant, or breastfeeding.
Forced vital capacity <40% without PEG tube.
Traecheostomy (an opening in the neck to facilitate breathing).
Mechanical ventilation.

If you would like to learn more about participating in this study, please send an e-mail message using the form below.