Rutgers Signs Agreements to Advance Gene Therapy Research for Congenital Muscular Dystrophy with Santhera Pharmaceuticals

Rutgers Signs Agreements to Advance Gene Therapy Research for Congenital Muscular Dystrophy with Santhera Pharmaceuticals

Piscataway, NJ – The fight against muscular dystrophy is now stronger as Rutgers University signs two agreements with Santhera Pharmaceuticals to advance pioneering research for the treatment of congenital muscular dystrophy.

The agreements – one licensing agreement and a research collaboration – complement the ongoing research of Peter Yurchenco, professor of the Department of Pathology and Laboratory Medicine at Rutgers Robert Wood Johnson Medical School (RWJMS) and a pioneer in a novel gene therapy approach for the treatment of LAMA2-deficient congenital muscular dystrophy (LAMA2 MD or MDC1A).

“Gene replacement is a promising therapeutic option for the treatment of LAMA2 MD. We have been working on continuously optimizing linker proteins engineered from extracellular matrix proteins which will aid in advancing such gene therapy approach towards clinical use,” said Yurchenco.

As a leading expert, Yurchenco’s strategy uses two linker proteins that are composed of domains derived from extracellular matrix proteins agrin, laminin and nidogen. The approach has led to the restoration of muscle fiber basement membranes in animal models as well as to the recovery of muscle force and size, increased overall body weight and markedly prolonged survival. The research demonstrates strong evidence for disease modifying potential.

“Santhera is excited to extend its collaborative network for this therapeutic approach, now including experts from Rutgers University,” added Kristina Sjöblom Nygren, MD, Chief Medical Officer and Head of Development of Santhera. “This will add value to our gene therapy program for LAMA2 MD and complements the work already underway with the Biozentrum at the University of Basel, which was awarded a grant by Innosuisse in 2019. Both of our collaboration partners have pioneered this field and will work closely with Santhera, clinical experts and the patient community to establish the best way to bring this approach to clinical use.”

Congenital muscular dystrophies (CMDs) are inherited neuromuscular diseases characterized by early-onset weakness and hypotonia alongside associated dystrophic findings in muscle biopsy. Progressive muscle weakness, joint contractures and respiratory insufficiency characterize most CMDs. Laminins are proteins of the extracellular matrix that help maintain muscle fiber stability by anchoring to muscle receptors and assembling a basement membrane through polymerization and extracellular protein binding.  LAMA2-related muscular dystrophy (LAMA2 MD, also called MDC1A), is one of the most common forms of CMD. It is caused by mutations in the LAMA2 gene encoding the alpha2 subunit of laminin-211. Most LAMA2 MD patients show complete absence of laminin-alpha 2, are hypotonic (floppy) at birth, fail to ambulate, and succumb to respiratory complications.

Approximately 250,000 people in the United States are affected by different kinds of muscular dystrophies, according to the National Organization of Rare Disorders.






About Rutgers, The State University of New Jersey

Rutgers, The State University of New Jersey, is a leading national research university and the state of New Jersey’s preeminent, comprehensive public institution of higher education. Established in 1766, the university is the eighth-oldest higher education institution in the United States. More than 71,000 students and 23,000 faculty and staff learn, work and serve the public at Rutgers University-New Brunswick, Rutgers University-Newark, Rutgers University-Camden, and Rutgers Biomedical and Health Sciences.

As the premier public research university in the state, Rutgers is dedicated to teaching that meets the highest standards of excellence, to conducting cutting-edge research that breaks new ground and aids the state’s economy, businesses, and industries, and to providing services, solutions, and clinical care that help individuals and the local, national, and global communities where they live.

About Santhera

Santhera Pharmaceuticals (SIX: SANN) is a Swiss specialty pharmaceutical company focused on the development and commercialization of innovative medicines for rare neuromuscular and pulmonary diseases with high unmet medical need. Santhera is building a Duchenne muscular dystrophy (DMD) product portfolio to treat patients irrespective of causative mutations, disease stage or age. A marketing authorization application for Puldysa® (idebenone) is currently under review by the European Medicines Agency. Santhera has an option to license vamorolone, a first-in-class anti-inflammatory drug candidate with novel mode of action, currently investigated in a pivotal study in patients with DMD to replace standard corticosteroids. The clinical stage pipeline also includes lonodelestat (POL6014) to treat cystic fibrosis (CF) and other neutrophilic pulmonary diseases, as well as omigapil and an exploratory gene therapy approach targeting congenital muscular dystrophies. Santhera out-licensed ex-North American rights to its first approved product, Raxone® (idebenone), for the treatment of Leber’s hereditary optic neuropathy (LHON) to Chiesi Group. For further information, please visit

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