Relevant Clinical Studies and Trials for Other Muscular Dystrophies

Study of Ataluren (PTC124) for previously treated patients with nmDBMD in the US, Europe, Israel, Australia, and Canada

Status: Currently recruiting DMD and BMD patients

Click Here for more information about the study for US patients

Click Here for more information about the study for patients outside the US

This study is being conducted by PTC Therapeutics and is currently only recruiting DMD or BMD patients with nonsense mutations who previously participated in a study testing Ataluren. This study is a phase 3 clinical trial to evaluate the long-term safety of Ataluren. PTC is also testing Ataluren in patients with Cystic Fibrosis, Hemophilia A and B, and Methylmalonic Acidemia.

Ataluren holds promise for LGM2B/Miyoshi patients who have a stop mutation in at least one copy of their dysferlin gene. The drug works by "skipping" over the faulty stop in the gene, enabling the protein to be made. At the moment, it is difficult to analyze how effective this therapy will be for LGMD2B/Miyoshi, but we are keeping a close eye on what is happening with this drug.

Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy

Status: Currently recruiting LGMD, BMD, and other types of muscular dystrophies

Click here for more information about this study or you can contact Dr. Fan directly at fanj@neurology.unc.edu or 919-843-3295.

This study is currently recruiting various types of muscular dystrophy patients which include LGMD, Becker Muscular Dystrophy patients. The goal of the study is to test the safety and feasibility of limb perfusion as a delivery method for gene therapy.

The genetic basis of many types of muscular dystrophies is well defined, which makes gene therapy a potential treatment option in the future. A key step to the development of gene therapy as a viable treatment option involves the identification of a safe and effective way of delivering the genetic material to the muscle. High pressure, high-volume transvenous limb perfusion has shown the greatest potential as a delivery method to date.

Study of ACE-031 in Subjects with Duchenne Muscular Dystrophy

Status: This study was terminated, because of preliminary safety data

Click Here for more information about this study 

This study was being conducted by Acceleron Pharma (http://www.acceleronpharma.com/products/ace-031) in DMD patients, but has been terminated due to preliminary safety data. The purpose of this study was to determine whether ACE-031 is safe and well-tolerated in children with DMD and to select the optimal doses of ACE-031 in terms of safety and pharmacodynamic (PD) activity for designing future studies.  Acceleron remains committed to the development of ACE-031 and intends to resume studies of ACE 031 in DMD as soon as possible pending further analysis of safety data and following discussions with regulatory agencies.

This therapy attempts to increase regeneration of muscle by blocking a protein called the ActRIIB receptor. When bound by particular molecules, the ActRIIB receptor normally transmits an “off” signal to stop muscle production. ACE-031 promotes muscle growth by inhibiting this “off” signal, which allows the muscle to grow. While this treatment will not affect the underlying cause of the muscular dystrophy, the hope is that by increasing muscle growth, you can make more muscle than you are losing and thereby maintain function. The Jain Foundation has funded a project (click here for details) to test the effects of increasing muscle growth via inhibition of ActRIIB signaling and other factors on dysferlinopathy mice to see if this could be a possible therapy for dysferlinopathy patients.

Gene Transfer Therapy for Treating Children and Adults with LGMD2D

Status: This study has been completed

Click Here for more information about this study

This study included patients with LGMD2D (caused by mutation in alpha sarcoglycan) patients. The purpose of this study was to evaluate the safety and effectiveness of gene therapy in treating patients with LGMD2D.  Click here for a list of publications that describe the results of this study.

Gene therapy also holds promise for the treatment of LGMD2B/Miyoshi patients. However, there are a number of dysferlin specific hurdles that need to be addressed before gene therapy could be an option. The Jain Foundation is currently funding two gene therapy projects that explore technologies to improve the efficiency of gene delivery (Matt Hirsch - click here for details and Isabelle Richard - click here for details), which will help expedite the development of gene therapy for LGMD2B/Miyoshi. We plan to fund a clinical trial for LGMD2B/Miyoshi patients when the technique is ready.