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Clinical Trial Summary

The proposed clinical trial is a double-blind, randomized controlled study with direct intramuscular injection of rAAVrh.74.MHCK7.DYSF.DV gene vector to the extensor digitorum brevis muscle (EDB). Two cohorts of subjects with dysferlin deficiency, each with proven mutations will undergo gene transfer. A minimum of three subjects will be enrolled into each cohort.


Clinical Trial Description

This is a phase I safety and tolerability study with a direct intramuscular injection of rAAVrh.74.MHCK7.DYSF.DV transferred to the extensor digitorum brevis muscle (EDB). The study is designed as a randomized, controlled, dose escalation trial with one EDB receiving the rAAVrh.74.MHCK7.DYSF.DV and the other side receiving saline alone. It will follow the previously safe and effective IM gene transfer to EDB for LGMD2D.2, 3 The first cohort, inclusive of three Dysferlinopathy subjects, will receive a gene transfer total dose of 2 x 10^12 vector genomes. Muscle biopsies will be performed at Day 45 (two subjects) and Day 90 (one subject). If there are no safety concerns, three additional subjects will be enrolled and receive an escalated dose at 6 X 10^12 vg (total dose). Muscle biopsies in the second cohort will be performed at Day 90 (one subject) and Day 180 (two subjects). This protocol design gives us a maximum period of observation ranging from 6 weeks to 6 months to capture both transient and delayed gene expression, and to recognize sustained expression. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT02710500
Study type Interventional
Source Sarepta Therapeutics, Inc.
Contact
Status Completed
Phase Phase 1
Start date March 2016
Completion date July 2019

See also
  Status Clinical Trial Phase
Active, not recruiting NCT01676077 - Clinical Outcome Study for Dysferlinopathy
Completed NCT00527228 - Deflazacort in Dysferlinopathies Phase 2/Phase 3
Enrolling by invitation NCT04824040 - Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy in the RF
Terminated NCT01863004 - Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Phase 1