Minoryx focuses its research on inborn errors of metabolism, a large class of genetic diseases that cause a heterogeneous group of congenital metabolic disorders mostly occurring in childhood. Single gene defects result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, fats, or complex molecules. These abnormalities can cause the accumulation of substances which are toxic or interfere with normal organ function, or can reduce the ability to synthesize essential compounds.
Most of these metabolic diseases are very rare and affect a wide range of organs. Those affecting the brain and the central nervous system (CNS) are between the most severe and devastating diseases, dramatically debilitating and often life-threatening.
There is not a pharmacological treatment for X-linked Adrenoleukodystrophy (ALD) the neurometabolic disease the efforts of Minoryx are centred.
X-linked Adrenoleukodystrophy (ALD) presents two main neurologic phenotypes. The most serious is cerebral ALD (cALD), characterized by brain neuroinflammation and early death, and occurring both in children and adults. The most common is adrenomyeloneuropathy (AMN), characterized by progressive severe motor dysfunction and affecting young adults.
Children and adult forms of ALD are characterized by central inflammatory demyelination in the brain, axonal degeneration and adrenal insufficiency.
Lysosomal storage disorders are caused by an inborn error of metabolism that results in the absence or deficiency of an enzyme, leading to the inappropriate storage of material in various cells of the body.
To treat lysosomal storage diseases Minoryx is developing a new class of non-competitive pharmacological chaperones capable of stabilizing unstable proteins and recover their enzymatic functionality.