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ASC Therapeutics, U Mass Medical School and Clinic for Special Children Announce Podium Presentation on Safety and Efficacy of Murine and Bovine Models for Novel Gene Therapy in Maple Syrup Urinary Disease at 25th ASGCT Meeting

MILPITAS, Calif.–(BUSINESS WIRE)–ASC Therapeutics, in partnership with the University of Massachusetts Medical School (UMMS) and the Clinic for Special Children (CSC), will present safety and efficacy results of vector replacement therapy Dual Function Gene in Mouse and Bovine Models of Classical Syrup Urine Disease (MSUD) as a podium presentation on Tuesday, May 17 (room 201, 3:45 – 4:00 p.m. ET, abstract number: 461) at the 25th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) May 16-19, 2022 in Washington DC

The UMMS research group, led by Guangping Gao, PhD, director of the UMMS Horae Gene Therapy Center, and Dan Wang, PhD, assistant professor of RNA therapy, developed mouse and bovine models for MSUD with a collaborating clinical expert, Dr. Kevin Strauss, MD, of the Clinic for Special Children.

Three animal models were generated to test safety and efficacy: two mouse models representing two common genetic forms of MSUD and a newborn calf naturally homozygous for a mutation that causes MSUD. All animals showed severe biochemical abnormalities within hours of birth and died within 10 days if untreated.

The partnership designed a dual-function AAV9 gene replacement vector that was administered by intravenous (IV) injection. The surviving mice grew and behaved similarly to their normal counterparts and had normal or nearly normal biochemical markers on an unrestricted diet for 16 weeks.

Compared to MSUD patients, MSUD calves display a similar phenotype and are closely matched for height and metabolic rate. Without treatment, they show cerebral edema on day 3 of life and die soon after. In October 2021, an MSUD calf was born and developed biochemical signs of MSUD shortly after birth. The calf received the gene therapy vector AAV9 at 40 hours of life. After AAV therapy, biomarker measurements indicated a significant restoration of the missing enzyme activity. 70 days post treatment the calf is transitioned to a normal unrestricted diet and continues to thrive 100 days post infusion with stable biochemical markers.

These data provide an early demonstration of the safety and efficacy of the MSUD AAV9 gene therapy replacement vector as a one-time treatment for the most common and severe forms of MSUD.

“The development of MSUD gene therapy builds on the combined AAV gene therapy expertise of UMass Chan Medical School, such as AAV vector design, rodent and large animal modeling, vector production at scale and in vivo preclinical testing,” said Drs. Gao and Wang commented.

Dr. Kevin Strauss, MD, Medical Director of the Clinic for Special Children in Pennsylvania, a collaborating clinical expert, added, “An innovative collaboration between the Clinic for Special Children and the UMMS Horae Gene Therapy Center has allowed us to significantly streamline reflected on the process of developing AAV gene replacement vectors. In just three years after project initiation, we have safely corrected an otherwise lethal MSUD phenotype in mice and a newborn calf using a novel dual-function system BCKDHA-BCKDHB vector, which has the potential to treat 70-80% of MSUD cases reported in humans. The newborn calf with MSUD may represent the largest non-human experimental animal ever treated with AAV-mediated gene replacement. The calf provides unique information that can directly inform the design of a clinical trial, which we hope to pursue through an alliance with ASC Therapeutics.

Dr. Ruhong Jiang, CEO of ASC Therapeutics, said: “The significant progress achieved through our research collaboration with Professors Gao, Wang and Strauss underscores the intrinsic value of bringing together highly specialized academic and industrial teams in gene therapies. complex.

About Maple Syrup Urinary Disease

Maple syrup urinary disease (MSUD) is a rare genetic disorder affecting the breakdown of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine and their ketoacid derivatives. MSUD is caused by biallelic mutations in one of three genes that code for subunits of the branched-chain ketoacid dehydrogenase complex (BCKDC), namely BCKDHA, BCKDHBand DBT. BCAA dietary restriction is the mainstay of treatment but has insufficient efficacy and offers no protection against episodic and life-threatening encephalopathy attacks. Severe (“classic”) MSUD is fatal without treatment. MSUD affects approximately 1 in 185,000 births worldwide.

About ASC Therapeutics

ASC Therapeutics is a pioneering biopharmaceutical company in the development of gene replacement therapies, in vivo gene editing and allogeneic cell therapies for hematological, metabolic and other rare diseases. Led by a management team comprised of industry veterans with significant global experience in gene and cell therapy, ASC Therapeutics is developing multiple therapeutic programs based on four technology platforms: 1) In vivo gene therapy for inherited blood clotting disorders, initially focusing on ASC618, a second-generation gene replacement therapy for hemophilia A; 2) In vivo gene therapy in metabolic disorders, initially focusing on maple syrup urinary disease; 3) In vivo gene editing, initially focusing on ASC518 for haemophilia A; and 4) allogeneic cell therapy, initially focused on deciduous stromal cell therapy for acute steroid-refractory graft-vs-host disease. To learn more, please visit

About the Clinic for Special Children

The Clinic for Special Children (CSC) is a non-profit organization located in Strasbourg, Pennsylvania that provides primary care and advanced laboratory services to those living with genetic disorders or other complex medical conditions. Founded in 1989, the organization provides services to more than 1,200 people and is recognized as a world leader in translational and precision medicine. The organization is primarily supported by community fundraising events and donations. For more information, please visit

About University of Massachusetts Medical School

The University of Massachusetts Medical School (UMMS), one of five campuses in the university system, includes the School of Medicine, the Graduate School of Biomedical Sciences, the Graduate School of Nursing, a thriving research enterprise, and a innovative public service initiative. , Commonwealth Medicine. Its mission is to advance the health of the people of the Commonwealth through pioneering education, research, public service and healthcare delivery with its clinical partner, UMass Memorial Health Care. In doing so, it has earned a reputation as a world-class research institution and a leader in the field of primary care education. For more information, please visit