Clinical Trials Round Up/Research Updates-Dr. Tiongson Clinical Trials Presentation

Dr. Tiongson Clinical Trials Presentation

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Dr. Emmanuelle (Noelle) Tiongson from Children's Hospital Los Angeles led an overview of the current clinical trials in pediatric neuromuscular (NM) diseases, focusing on Spinal Muscular Atrophy (SMA) and congenital myopathies including myotubular myopathy (MTM1). In her presentations, Dr. Tiongson provided updates on SMA trials, highlighting the benefits and ongoing evaluation of various gene-targeted therapies, such as those involving Biogen and Roche, which include new formulations and dosing strategies of nusinersen and risdiplam.<br /><br />Dr. Alexander Fay at UCSF and other professionals presented additional insights on genetically targeted therapies and management strategies for conditions like Duchenne Muscular Dystrophy (DMD) and Myasthenia Gravis in pediatrics. Noteworthy SMA trials include the DEVOTE and ASCEND studies assessing higher doses of nusinersen, and the RAINBOWFISH and FIREFISH studies evaluating risdiplam. Newer approaches involve gene therapy, ASO, small molecules, and myostatin inhibition.<br /><br />Dr. Tiongson also covered the halted MTM1 gene therapy trial due to severe adverse events, including unexpected deaths related to cholestatic liver disease, emphasizing the necessity for careful monitoring of pre-existing liver conditions in trial candidates. Other trials in congenital myopathy were noted for their safety profiles although lacking statistical significance in outcome improvements.<br /><br />The presentations showcased a dynamic and evolving field in pediatric neurology, where clinical trials continue to expand understanding and treatment of these genetic conditions. With exciting developments in gene and small molecule therapy, ongoing efforts focus on understanding long-term safety and therapeutic efficacy. Attendees were encouraged to access clinical trial databases and resources such as Cure SMA to stay updated.

Keywords

pediatric neuromuscular diseases

Spinal Muscular Atrophy

SMA

congenital myopathies

gene-targeted therapies

nusinersen

risdiplam

gene therapy

Duchenne Muscular Dystrophy

Myasthenia Gravis

clinical trials

spinal muscular atrophy

SMA