Early Phase Gene Therapy Study for SMARD1/CMT2S Disease Now Enrolling

March 9, 2022

(COLUMBUS, Ohio) – Nationwide Children's Hospital has launched a new Phase I/IIa gene replacement clinical study to evaluate the safety of a gene therapy for IGHMBP2-related diseases, specifically spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot Marie Tooth disease type 2S (CMT2S). SMARD1 and CMT2S are rare inherited conditions that are both caused by mutations in the IGHMBP2 gene, of which more than 60 have been found to date. SMARD1 is the most severe form of these diseases and causes muscle weakness and respiratory failure in infancy.

The IGHMBP2 gene replacement therapy will be delivered through an injection into the cerebrospinal fluid, allowing diffusion throughout the central nervous system. Specific criteria for children to be eligible for the study include being between the ages of two months and 14 years and having a confirmed presence of two pathogenic variants in the IGHMBP2 gene. Six to 10 participants are expected to take part in the study.

This gene replacement trial will build upon the results of preclinical research led by Kathrin Meyer, PhD, who is a principal investigator within the Center for Gene Therapy at Nationwide Children's, and her collaborators at The Ohio State University, Jackson Laboratories, and the University of Milano, Italy. The preclinical work was supported by advocacy and funding from the non-profit foundation, SmashSMARD, as well as Alcyone Therapeutics. The clinical trial is funded by Alcyone Therapeutics.

SmashSMARD’s mission is to find safe, effective treatments and ultimately a cure for IGHMBP2-related diseases, including SMARD1 and CMT2S.

Alcyone Therapeutics, to whom the SMARD1/CMT2S gene replacement therapy program is optioned, is a biotech company dedicated to overcoming the unique challenges posed by neurological disorders through the development of novel gene-based therapeutics and state-of-the-art precision delivery techniques. Alcyone’s optioned pipeline comprises four gene therapy platform technologies, across which there are currently 12 adeno-associated virus (AAV) gene therapy programs, together addressing severe neurological disorders including neurodevelopmental disorders, neuromuscular disorders, epileptic encephalopathies, and hereditary ataxias.

“Partnering with SmashSMARD and the families affected by these disorders is an honor, and we’re grateful for their advocacy and support for this crucial research. We’re also excited to have the support of Alcyone Therapeutics to fund this trial,” says Megan Waldrop, MD, principal investigator of the trial, and faculty member within the Center for Gene Therapy at Nationwide Children's Hospital. “Bringing together patient family foundations like SmashSMARD and biotech companies such as Alcyone with our unique research brings hope to children facing these rare diseases.”

Disclosures:  Dr. Meyer currently is chair of the Alcyone scientific advisory board (SAB).  She holds stock options in Alcyone, and has received financial compensation from Alcyone for consulting and for serving on the Company’s SAB.  She may receive future income related to the successful commercialization of the technology involved in this clinical trial. 

About the Abigail Wexner Research Institute at Nationwide Children's Hospital
Named to the Top 10 Honor Roll on U.S. News & World Report’s 2021-22 list of “Best Children’s Hospitals,” Nationwide Children’s Hospital is one of America’s largest not-for-profit free-standing pediatric health care systems providing unique expertise in pediatric population health, behavioral health, genomics and health equity as the next frontiers in  pediatric medicine, leading to best outcomes for the health of the whole child.  Integrated clinical and research programs are part of what allows Nationwide Children’s to advance its unique model of care. As home to the Department of Pediatrics of The Ohio State University College of Medicine, Nationwide Children’s faculty train the next generation of pediatricians, scientists and pediatric specialists. The Abigail Wexner Research Institute at Nationwide Children’s Hospital is one of the Top 10 National Institutes of Health-funded free-standing pediatric research facilities in the U.S., supporting basic, clinical, translational, behavioral and population health research. The AWRI is comprised of multidisciplinary Centers of Emphasis paired with advanced infrastructure supporting capabilities such as technology commercialization for discoveries; gene- and cell-based therapies; and genome sequencing and analysis. More information is available at NationwideChildrens.org/Research.