Duchenne Muscular Dystrophy: A Progress Replace (Podcast)

Recent advances in gene remedy and collaborative care are reworking remedy approaches to Duchenne muscular dystrophy (DMD), a extreme, progressive neuromuscular dysfunction presenting in early childhood.

“Duchenne muscular dystrophy is caused by mutations in the gene that encodes the dystrophin protein, preventing this protein from forming,” explains Alexandra Bonner, MD, a Cleveland Clinic pediatric neurologist specializing in neuromuscular problems. “A key question in gene therapy for DMD is whether we can deliver the full-length dystrophin gene to the muscle cells and allow those muscle cells to encode it. The answer right now is not yet, actually, because the dystrophin gene is massive. Researchers have looked at all the critical components of this massive gene, leaving out the less-critical parts, and packaged them into a smaller microdystrophin that can ben incorporated into our known viral vectors.”

In the most recent episode of Cleveland Clinic’s Neuro Pathways podcast, Dr. Bonner shares some insights from this analysis in addition to questions that stay. Along the way in which, she offers a basic replace of DMD for non-subspecialists, referring to the next:

• Genetics of DMD
• Diagnostic testing, together with preliminary adoption of new child screening
• Standard remedies earlier than gene remedy
• Supportive care, together with cardiac and respiratory administration
• Improvements in lifespan
• The rationale for a complete gene remedy program for DMD

Click the podcast participant above to hearken to the 21-minute episode now or learn on for an edited excerpt. Check out extra Neuro Pathways episodes at clevelandclinic.org/neuropodcast or wherever you get your podcasts.

This exercise has been accredited for AMA PRA Category 1 Credit™ and ANCC contact hours. After listening to the podcast, you may declare your credit score here.

Excerpt from the podcast

Podcast host Glen Stevens, DO, PhD: Tell us in regards to the genetics of DMD.

Alexandra Bonner, MD: It’s is an X-linked recessive dysfunction, so females are typically carriers. They have a tendency to not manifest signs, though a small share of females can manifest some cardiac signs later in life, so it’s good to have that in your radar and know that females might be screened. But it is actually males who manifest signs.

Dr. Stevens: What share of sufferers inherit this situation from a mum or dad versus growing it from a spontaneous mutation?

Dr. Bonner: About one-third of mutations are de novo, whereas the opposite two-thirds might be inherited from a mum or dad.

Dr. Stevens: So if a new child had an elevated creatine kinase stage and it remained elevated upon follow-up in order that your suspicion for DMD was very excessive, would you take into account genetic testing at that time?

Dr. Bonner: I’d. Right now, relying on the extent, I’d take into account sending a display screen of the dystrophin protein first. Which testing you select to order would possibly depend upon the place you’re working towards. But if the extent is frankly excessive, I’d take into account sending that dystrophin display screen first. Of course, an elevated CK stage will not be particular to Duchenne; it’s only a marker of muscle breakdown. So there are a variety of different problems which can be probably being captured with a new child display screen.

Dr. Stevens: Do sufferers on this state of affairs need to be despatched to medical genetics, or can the neurologist order the testing?

Dr. Bonner: It’s a altering panorama proper now. For focused testing, I’m in a position to ship that testing myself. For broader testing, if that’s wanted, insurance coverage suppliers should not all the time overlaying exams like complete exome sequencing or complete genome sequencing until there’s involvement of a genetic counselor or different hoops to leap by means of. So, from a focused testing standpoint, I can and do provoke that testing. If we now have to develop to additional testing, I’ll pull in our medical genetics crew.