Qualified for CNS drug delivery

Genetic Diseases

Metachromatic Leukodystrophy (MLD)

NEUWAY Pharma uses its proprietary CNS Drug Delivery Platform for the development of gene therapies for the treatment of a broad variety of severe monogenetic CNS diseases. There are 6,000 known gene defects today, and most of those which are deadly primarily affect the CNS, e.g. Metachromatic Leukodystrophy, Krabbe disease, Zellweger syndrome, Battens disease, Chorea Huntington. NEUWAY Pharma is currently working on treatments for Metachromatic Leukodystrophy and Huntington's disease.

The disease

Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive inherited genetic disease belonging to the family of lysosomal storage diseases (incidence 1:40000). Most of the cases are caused by alterations in the ARSA gene leading to a loss of function of the encoded protein Arylsulfatase A (ASA). ASA is a key enzyme in the breakdown of sulfatides.
The pathophysiological hallmark of MLD is the accumulation of sulfatides in myelin-producing oligodendrocytes. As a consequence extensive loss of myelinated oligodendrocytes in the CNS occurs leading to abnormal central and peripheral myelination and extensive white matter damage. Clinically patients show progressive symptoms of developmental delays, weakness, muscle rigidity, mental deterioration, dementia, blindness. The disease is almost always fatal within a few years (Fluharty, 2006).
Until today there is no cure for MLD. Enzyme replacement therapy shows promising results but is hampered by the limited delivery of the enzyme over the blood-brain-barrier (Helman et al, 2015).

Use of NEUWAY Pharma’s CNS Drug Delivery Technology for the treatment of MLD

Most MLD cases are caused by the loss of function of the gene ARSA. Delivery of exogenous ARSA or the overexpression of ARSA reduces the amount of sulfatides significantly (Patil et al, 2013). The developments of these approaches are hampered by the limited delivery of the active compounds over the blood-brain-barrier. NEUWAY Pharma's CNS Drug Delivery Technology is able to overcome this limitation. NEUWAY’s approach uses an expression plasmid encoding for ARSA packed into EPCs. This delivers the plasmid to its site of action. Proof of concept has been shown both in vitro as well as in vivo in healthy mice.


  • Fluharty (2006) Arylsulfatase A Deficiency. Gene Reviews http://www.ncbi.nlm.nih.gov/books/NBK1130/
  • Helman G, Van Haren K, Bonkowsky JL et al (2015) Disease Specific Therapies in Leukodystrophies and Leukoencephalopathies. Molecular Genetics and
  • Metabolism 114 (4): 527 - 36
  • Patil and Maegawa (2013) Developing therapeutic approaches for metachromatic leukodystrophy. Drug Design, Development and Therapy 7: 729 - 45

Huntington`s Disease

The disease (NINDS, 2016)

Huntington`s Disease (HD) is a rare inherited, progressive neurological and neuropsychiatric disease caused by impaired nerve cell function in the brain (incidence: 0.38 per 100,000). HD is caused by an autosomal dominant mutation of the gene Huntingtin. The Huntingtin gene provides the genetic information for a protein that is also called "Huntingtin". Diagnosis is by genetic testing. Huntingtin is expressed in all mammalian cells but its function in humans is still unclear. The mutated Huntingtin protein is toxic to certain cell types, particularly in the brain. The onset of the disease usually occurs at between 30 and 50 years of age. Clinically patients with Huntington's disease usually present with movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Disabilities get worse over time. People with this disease usually die within 15 to 20 years following diagnosis. At this time, no treatment is available to slow, stop or reverse the course of HD. But medications can reduce some symptoms of movement and psychiatric disorders.

Use of NEUWAY Pharma’s CNS Drug Delivery Technology for the treatment of Huntington`s Disease (HD)

Huntington’s Disease is caused by gain-of-function mutations in the HTT gene encoding the protein Huntingtin. Preclinical experiments using small interfering RNAs (siRNAs) or antisense oligonucleotides (AOs) targeted against HTT successfully reduced the amount of mutated protein which correlated with reduced toxicity (Wild and Tabrizi, 2014). Clinical development of these compounds is hampered by the poor delivery over the blood brain barrier. NEUWAY Pharma CNS Drug Delivery Technology is able to overcome this limitation. Expression modifying agents (siRNA, AOs, miRNAs) are packed into EPCs and delivered to their site of action. Proof of concept has been shown in vitro.


  • NINDS Huntington's Disease Information Page. National Institute of Neurological Disorders and Stroke. 2016. http://www.ninds.nih.gov
  • Wild EJ and Tabrizi SJ (2014) Targets for future clinical trials in Huntington's disease: what's in the pipeline? Mov Disord 29 (11) 1434 - 45