This course is available as a stand-alone purchase, part of the Pediatric Neuromuscular Course Bundle, or the 2024 Annual Meeting Video Collection.

Discuss the types of approved genetically targeted therapies for SMA and DMD and data supporting approval; review the DMD treatment landscape beyond genetically targeted therapies, including corticosteroids, givinostat and other treatments still under investigation; discuss the treatment approach for congenital myopathies and congenital myasthenic syndromes, including data from the halted MTM1 gene therapy trial; review the diagnosis and management of pediatric MG, highlighting seronegative MG and treatment of refractory MG in children; review the mechanism of myostatin inhibition, current ongoing clinical trials, translational research, and potential application in multiple pediatric NM conditions; recognize the utility and relevance of skeletal muscle needle biopsy post genetic therapies; review the process of RNA/transcriptomic analysis of skeletal muscle; and describe cellular and molecular changes in dystrophic skeletal muscle; and review the process of assessing durability of skeletal muscle transgene expression.

FORMAT: Recorded session from the 2024 Annual Meeting.

OBJECTIVES:
1) Review current types of approved genetically targeted therapies for SMA and DMD

ACCREDITATION STATEMENT
The AANEM is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

CREDIT DESIGNATION :
The AANEM designates this enduring material for a maximum of 1.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

All relevant financial relationships have been mitigated.

Speakers:

Michelle Allen-Sharpley, MD, PhD

• No disclosures.

Alexander Fay, MD

• Sarepta, Reata, Ultragenyx- consultant

Stanley Nelson, MD 

• Pfizer, Sarepta, Entrada, regenxbio, NSPharma, PTC- consultant
• Edgewise, Fibrogen- PI for clinical trials

Emmanuelle Tiongson, MD

• No disclosures.