Myonexus' pipeline also includes MYO-102, a gene therapy candidate for LGMD2D (alpha-sarcoglycanopathy) currently completing a Phase 1/2a clinical trial, MYO-201, a gene therapy candidate for LGMD2B (dysferlinopathy) currently in Phase 1, MYO-103, a preclinical gene therapy candidate for LGMD2C (gamma-sarcoglycanopathy), and MYO-301, a preclinical gene therapy candidate for LGMD2L (anoctamin 5).
The foundation also assists patients in receiving a confirmed genetic diagnosis of dysferlinopathy, and maintains a patient registry for the disease.
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy
. Life Sci 2014; 108: 54-61, doi: 10.1016/j.lfs.2014.05.005.
is a rare genetic disease, with an incidence rate estimated to be between 1 in 100,000 and 1 in 200,000 .
When in excess, X-ROS in skeletal muscle is maladaptive as shown in diseases such as Duchenne muscular dystrophy (DMD) and dysferlinopathy
which both have altered calcium signaling as major mechanistic underpinnings.
Evotec AG and the Jain Foundation have extended and expanded their research collaboration using Evotec's assay development and screening capabilities to support the Jain Foundation's research efforts to find a cure for dysferlinopathy
. Financial details were not disclosed.
Finally, a recent study investigated the role of lymphocytes in muscle dysferlinopathy
using Scid/A/J transgenic mice and showed that the absence of T and B lymphocytes resulted in an improvement of muscle regeneration .
"We have shown that AAV5-dysferlin delivery is a very promising therapeutic approach that could restore functional deficits in dysferlinopathy
patients," she added.
Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy
. Muscle Nerve 2016;54:1072-9.
For instance, the presence of endomysial and perivascular inflammation is an established hallmark of dysferlinopathy
Dysferlin gene mutation spectrum in a large cohort of Chinese patients with dysferlinopathy
. Chin Med J 2016;129:2287-93.
is caused by mutations in the dysferlin (DYSF) gene.