Duchenne clinical trials research explanation

Therapies under investigation: Where do I start?

Advances in therapies to treat Duchenne/Becker muscular dystrophy continue at a pace not previously seen in the DBMD community. New discoveries are made and many enthusiastic claims are spread, increasing the hope that treatments will soon be available. Very different approaches are being investigated, including: exon-skipping, nonsense mutation read-through, myostatin inhibition, utophin upregulation, among others. Families often wonder, where should they start? What do these therapies and terms mean? Which therapy should they pay attention to? Which is most appropriate for their son?

The resources provided below may help families better understand the treatment approaches currently under investigation for muscular dystrophy.

An Introduction

The TREAT-NMD Neuromuscular Network provides an overview to the different areas of therapy, including: gene therapy, cell therapy, drug therapy (non-mutation specific) and mutation-specific therapies: http://www.treat-nmd.eu/patients/DMD/dmd-research/

An additional overview of therapeutic approaches has been prepared by Dr. Annemieke Aartsma-Rus. The presentation, Therapeutic Approaches for Duchenne Muscular Dystrophy, describes Ataluren (formerly PTC124), gene therapy, cell therapy, and other drug therapies.

Exon Skipping Strategies

In her presentation, Exon Skipping Therapy for Duchenne Muscular Dystrophy, Dr. Annemieke Aartsma-Rus further explains exon-skipping and the two chemical forms currently under development.
Link to ppt

The DMD Genetic Therapy Group at Leiden University Medical Center has organized published tables of exons that, in theory, would need to be skipped to restore the reading frame for common exon deletions , duplications,  and point mutations.  These tables are available from the links provided or by visiting: http://www.humgen.nl/lab-aartsma-rus/. Though not all of these applications are currently available or in clinical trials, this information may help families understand how the exon-skipping approach can be expanded in the future.

Stem Cell Therapy

Stem cell therapies have been discussed for many genetic diseases over the past decade. Scientists continue to refine how stem cell therapies work, yet, it can be difficult for families to sort through the excitement about the potential to treat genetic diseases, from the reality that is available today.

The TREAT-NMD Neuromuscular Network has compiled information to help families better understand stem cell therapy for treatment of muscular dystrophy. Though stem cell treatment has not been proven today, continued research and development may pave a path for treatment in the future: http://www.treat-nmd.eu/patients/stemcells/stemcells/.

Other parent resources

Dr. Guenter Scheuerbrandt provides a report to Parent Project Muscular Dystrophy that provides a background explanation for numerous therapies under investigation and summarizes previous research results: http://www.parentprojectmd.org/site/DocServer/2008_Research_Approaches.pdf?docID=5741.

The DMD Genetic Therapy Group at Leiden University Medical Center provides information for families regarding mutations, therapies and exon-skipping: http://www.humgen.nl/lab-aartsma-rus/index%20for%20parents.html

What if I still have questions?

The genetic counselors at DuchenneConnect are available to answer your questions and help you find information about genetics, therapies under investigation and clinical trials. Contact us by email at: coordinator@duchenneconnect.org or by phone at: (201) 937-1408.