Santhera Pharmaceuticals has entered into a collaboration agreement with researchers from the Biozentrum of the University of Basel in Switzerland to develop a new gene therapy for treating people with LAMA2-deficient congenital muscular dystrophy (LAMA2 MD).
LAMA2 MD, also known as merosin-deficient congenital muscular dystrophy (MDC1A), is a type of muscular dystrophy caused by genetic mutations in the LAMA2 gene. This gene provides instructions to make a protein called laminin-alpha 2, which is one of the proteins required to build muscle fibers.
Gene therapy is one of the most promising therapeutic avenues for people with inherited disorders, including those with different types of muscular dystrophy.
The new $1.21 million research collaboration between Santhera and Markus Rüegg, PhD, professor of neurobiology at the Biozentrum of the University of Basel, aims at supporting the development of a novel gene therapy for the treatment of LAMA2 MD.
The therapy, developed by Rüegg and collaborators, is based on the production of two small protein fragments, called linker proteins, derived from other extracellular matrix proteins. These linker proteins have been designed to restore the structure and function of muscle fibers lacking laminin-alpha 2. The extracellular matrix is the network that surrounds and supports cells as they grow.
In animal models of LAMA2 MD, researchers have shown that linker proteins successfully restored the structure and function of muscle fibers, leading to a significant increase in the animals’ body weight and lifespan. They are now hopeful the same thing can be achieved in human patients.
“LAMA2 MD is a severe form of congenital muscular dystrophy (CMD) which based on its molecular pathology [mechanisms of disease] offers the possibility for gene replacement,” Rüegg said in a press release.
“The approach we have optimized over the past years relies on the simultaneous expression of two linker proteins engineered from extracellular matrix proteins. We and others have shown that this approach has a profound beneficial effect in mouse models of the disease. I am looking forward to collaborating with Santhera as our translational research partner to advance our gene therapy approach towards clinical use,” Rüegg added.
The collaboration agreement also will assess whether gene delivery using conventional viral vectors might be feasible in human patients participating in future clinical studies.
The project is supported by public funds aimed at promoting scientific innovation in Switzerland through a grant from Innosuisse – the Suisse Innovation Agency. Santhera and Innosuisse will invest a total of CHF 1.2 million (US$1.21 million) to support the costs of the research collaboration.
“We are excited to collaborate with experts from the Biozentrum to advance this novel gene therapy approach to the clinic for the benefit of patients with this devastating disease,” said Thomas Meier, PhD, CEO of Santhera.
“We build on our experience with omigapil, which we have recently studied in a Phase 1 clinical trial [NCT01805024] in patients with CMD in a collaboration with experts at the National Institutes of Health (USA). From our previous work we anticipate that this novel gene therapy approach and omigapil could act complementary. As before, we will continue working closely with clinical experts and the patient community to establish the best way forward,” he added.