Clinical priorities

Muscle degenerative diseases

Thanks to its unique technology which is able to produce paraxial mesoderm from pluripotent stem cells, Anagenesis can produce muscle progenitors highly enriched in muscle adult stem cells, i.e. satellite cells. Those cells are key to muscle regeneration. Drugs acting on satellite cells therefore represent an innovative approach to treat both genetic and chronic muscle diseases.

Duchenne Muscular Dystrophy (DMD)

DMD is the most common muscular dystrophy (1 male born in 3.500) and one of the most common human genetic diseases. In DMD patients, the gene coding for the protein dystrophin is mutated (the largest gene of the human genome, located on the X chromosome), resulting in muscle fiber weakness, progressively leading to their degeneration and muscle wasting. The pathology is very severe, as it affects all muscles of the organism and life expectancy of a patient is currently between 20 and 30 years.

There is no cure for DMD (as well for other dystrophies in general) and current treatments are limited to palliative care, mainly consisting in supportive care to control the onset of symptoms, slow down disease progression and prevent the cardiac, respiratory and orthopedic complications caused by the disease. The development of curative treatments targeting the underlying cause of the disease is a real therapeutic challenge.

Other Muscular diseases

Muscular Dystrophies:  Becker Muscular Dystrophy / Congenital Muscular Dystrophy / Distal Muscular Dystrophy / Emery-Dreifuss Muscular Dystrophy / Facioscapulohumeral Muscular Dystrophy / Limb-Girdle Muscular Dystrophy / Oculopharyngeal Muscular Dystrophy

Myotonic disorders: Myotonic Dystrophy / Myotonia Congenita / Paramyotonia Congenita

Spinal Muscular Atrophies: SMA Type 1/2/3/Adult

Metabolic Diseases of the Muscle: Acid Maltase Deficiency / Carnitine Deficiency / Carnitine Palmityl Transferase Deficiency / Debrancher Enzyme Deficiency / Lactate Dehydrogenase Deficiency / Mitochondrial Myopathy / Myoadenylate Deaminase Deficiency / Phosporylase Deficiency / Phosphofructokinase Deficiency / Phosphoglycerate Kinase Deficiency

Other Myopathies: Bethlem Myopathy / Central Core Diseases / Congenital Fibre Type Disproportion / Fibrodysplasia Ossificans Progressiva / Hyper, Hypo Thyroid Myopathy / Minicore, Multicore Myopathy / Myotubular Myopathy / Nemaline Myopathy / Periodic Paralysis, Hypokalemic, Hyperkalemic

Sarcopenia and Cachexia

body2Sarcopenia is the degenerative loss of skeletal muscle mass and strength associated with aging (50% loss between 20 and 80 years). Due to lessened physical activity and increased longevity of industrialized populations, sarcopenia is emerging as a major health concern. The global population affected is estimated to be over 50 million cases today and to reach more than 200 million in the next 40 years (Source: Neurotune).

Cachexia is characterized by unintended weight loss, muscle weakness and fatigue.  It is not a disease by itself but rather a symptom for other affections such as cancer or aids. Cachexia is associated with increased morbidity and mortality independent of the underlying condition. Cachexia is responsible for the deaths of 20 to 40% of cancer patients (source US National Cancer Institute). The disease affects about 9 million people in North America, Europe and Japan only.

Currently, there are no widely accepted drugs to treat sarcopenia or cachexia.


 

Metabolic diseases

Metabolic diseases such as obesity and type 2 diabetes (T2D) represent a major health challenge. Aging and life style are largely responsible for a constant increase of those pathologies.

In mammals, two main types of adipocytes coexist, i.e. brown adipocytes (BA) and white adipocytes (WA), which are all involved in energy balance regulation while having opposite functions. White adipose tissue (WAT) is dispersed throughout the body and is mainly involved in energy storage. In contrast, brown adipose tissue (BAT) is specialized in energy expenditure. Activated BAT consumes metabolic substrate and burns fat to produce heat via the uncoupling protein (UCP)-1. This tissue is found in large quantities in newborns and hibernating species. In humans, the quantity of BAT decreases over time, and only small deposits can be found in adults.

BA have a significant therapeutic potential; in burning fat to generate heat and regulating the body’s homeothermy, they have been shown to promote weight loss or regulate metabolic parameters such as glycemia.

Thanks to its unique technology which is able to produce paraxial mesoderm from pluripotent stem cells, Anagenesis can produce BAT highly enriched in UCP1+ BA. Those cells are key to the regulation of metabolism and body weight. Drugs acting on BA therefore represent an innovative approach to treat metabolic diseases and T2D.