Expanded Access Use of microRNA Delivered Intrathecally via Adeno-Associated Virus rh10 as Therapy for Mutant SOD1 Mediated Amyotrophic Lateral Sclerosis (ALS)

Study Purpose:

The purpose of this study is to provide compassionate use of virally delivered miRNA against SOD1 to two subjects with ALS caused by mutations in the SOD1 gene. 


Familial ALS

Study Type:

Interventional Trial

Study Category:

Drug Trial , Gene Therapy

Study Status:



Phase I

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

Robert Brown, D. Phil, M.D., UMMC

James Berry, M.D., MGH

Clinicaltrials.gov ID (11 digit #):


Neals Affiliated?


Coordinating Center Contact Information

Lindsay Pothier / .(JavaScript must be enabled to view this email address) / 617-643-5582
.(JavaScript must be enabled to view this email address) Boston, Massachusetts United States

Full Study Summary:

This is an open-label, investigational protocol for intrathecal administration of anti-SOD1 miRNA (amiR- SOD1) as an emergency therapeutic in two protocol defined subjects with the SOD1 gene mutations. The intention is to deliver drug into the intrathecal space using adeno- associated virus rhesus strain 10 (AAVrh10). The primary outcome for our study will be clinical status of the patients as assessed by the ALSFRS-R. The safety of anti-SOD1 RNAi will be evaluated using vital signs, weight, clinical laboratory determinations, physical and neurological examinations, ECG’s, AEs, (including death and other SAEs), and use of concomitant medications.

Study Sponsor:

Robert H. Brown Jr., D. Phil, M.D.

Participant Duration:

The study volunteers will be followed at weekly (+/- 2 days) intervals for one month post infusion and then monthly (28 days +/- 5 days) until one year post-infusion. Thereafter visits will be every three months (84 days +/- 7 days) up to 24 months post infusion, then every 6 months (168 days +/- 14 days) thereafter indefinitely.

Estimated Enrollment:


Estimated Study Start Date:


Estimated Study Completion Date:


Posting Last Modified Date:


Date Study Added to alsconsortium.org: