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.

Study Status:

Not recruiting


Familial ALS

Study Type:


Type of Intervention:

Drug Trial, Gene Therapy

Intervention Name:




Phase 1

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

Robert Brown, D. Phil, M.D., UMass James Berry, M.D., MGH

Clinicaltrials.gov ID:

Neals Affiliated?


Coordinating Center Contact Information

Massachusetts General Hospital

Lindsay Pothier / email hidden; JavaScript is required / 617-643-5582

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:

11 / 01 / 2016

Estimated Study Completion Date:

11 / 01 / 2020

Posting Last Modified Date:

04 / 18 / 2018

Date Study Added to neals.org:

09 / 18 / 2017

Massachusetts General Hospital

Boston, Massachusetts
United States

University of Massachusetts

Worcester, Massachusetts
United States