Pediatric Health: Orphazyme Develops Promising New Treatment for Rare, Incurable Neurological Diseases in Children

Researchers from Orphazyme ApS, a Danish biopharmaceutical company, have developed a promising new treatment for a rare genetic metabolic disorder characterized by severe systemic and neurological problems.

The new treatment method, described in a paper published in the journal Science Translational Medicine, could treat several diseases in the sphingolipidoses family of lysosomal storage diseases. These diseases include Niemann-Pick type C, Fabry and Sandhoff, which involves the accumulation sphingolipids or fat molecules in the cells that are often fatal during early childhood.

"This is a great discovery which holds promise for a number of terrible, currently untreated childhood diseases. Our aim is to bring a new class of efficacious drugs to these patients and their families, to make a meaningful difference in their lives," said Dr Thomas Kirkegaard Jensen, Chief Scientific Officer at Orphazyme ApS, in a press release.

For the new method, the researchers used heat shock protein 70 (HSP70), a natural stress response protein that assists cells in breaking down and disposing of accumulating sphingolipids. When they tested the new treatment in cell and animal models of Niemann-Pick type C, Fabry and Sandhoff, the sphingolipid build up and associative symptoms of the disease were reduced.

Additionally, the researchers also tested the effects of arimoclomol, an experimental drug known to stimulate diseased cells to produce their own sphingolipids, to the sphingolipids. The researcher discovered that arimoclomol was able to reduce the accumulated sphingolipids and significantly decreased related symptoms.

People who are suffering from lysosomal storage disease were not able to produce functional enzymes that help breakdown waste products. In case of sphingolipidoses, fat molecules accumulate, damaging all major organs, particularly the brain and nerve cells.

 Patients with sphingolipidoses may develop loss of motor function (ataxia), renal failure, seizures, excruciating pain and sight loss. Sphingolipidoses was reported to occur in approximately 1 in 10,000. Progression of the disease may be mild in juvenile in adults. However, it can be fatal to children aging one to five years old.