Neuromuscular disease: Gene Transfer for Children: What we Know Now

Course Description: The promise of gene therapy is now a reality for several neuromuscular conditions. This symposium will address four educational objectives including 1)to understand treatment implementation for commercially available gene transfer 2) to understand the status of ongoing clinical trials in Spinal Muscular Atrophy, X-linked myotubular myopathy, Duchenne and limb girdle muscular dystrophy; 3) to understand future gene therapy for other neuromuscular disorders and 4) to understand the critical role of Newborn screening if gene therapy is to succeed.

Learning Objectives

1. Understand the current status of approved, ongoing, and future clinical gene transfer trials for children with neuromuscular disorders.
2. Understand the role of the Newborn Screening in the translation of these clinical trials to implementation across all populations.

Impact Statements

1. Understanding the treatment and care of a child before, during and after gene transfer and the role of Newborn screening as therapies are approved.
2. Understanding and describing risk/benefit considerations of gene replacement therapy in a non-progressive muscle disease such as X-linked myotubular myopathy.

Organizer: Anne M. Connolly, MD FAAN; Nationwide Children’s Hospital, The Ohio State University College of Medicine, Columbus, Ohio, USA

Gene Therapy for SMA and DMD: Where are we Now? Anne M. Connolly, MD FAAN

Gene Replacement Therapy in X-linked Myotubular Myopathy
Nancy L Kuntz, MD, FAAN; Ann & Robert H Lurie Children’s Hospital of Chicago, Chicago, Illinois, USA

Is Gene Replacement a Viable Option for my Favorite Disease?
Katherine D Mathews, MD; University of Iowa Carver College of Medicine, Iowa City, Iowa, USA

Newborn Screening in the Era of Gene Therapy
Margie Ream, MD, PhD; Nationwide Children’s Hospital, Columbus, Ohio, USA