Companies Developing NPC Therapies

Orphazyme is a Danish biopharmaceutical company with a late-stage drug pipeline, developing new treatment options for orphan protein-misfolding diseases.

Arimoclomol stimulates an increased production of heat-shock proteins in cells experiencing stress or toxicity. Arimoclomol is administered orally and Orphazyme has reported positive results from a Phase II/III clinical trial in NPC.

Cyclo Therapeutics sell scyclodextrins and related products to the pharmaceutical, nutritional, and other industries, primarily for use in diagnostics and specialty drugs with continuing growth in research and new product development. They also launched clinical trials for their lead compound, Trappsol® Cyclo™.

Trappsol® Cyclo™ is an orphan drug designated product in the United States and Europe, is in three ongoing formal clinical trials for NPC disease. Currently, Trappsol® Cyclo™ is being administered through an IV.

StrideBio us developing advanced-generation gene therapies to expand the treatment-eligible population and improve outcomes for patients with rare diseases and beyond.

In a collaboration with Serepta, STRX-210 utilizes the STRIVE™ platform to develop AAV vectors that improve upon naturally occurring AAV serotypes, overcoming current limitations of first-generation gene therapies.

IntraBio is a biopharmaceutical company with a late-stage drug pipeline that includes novel treatments for genetic and neurodegenerative diseases. Their clinical programs leverage the expertise of our scientific founders from the University of Oxford and University of Munich, the preeminent experts and pioneers in discovering and developing small molecule drugs that modulate lysosomal function and intracellular calcium signaling.

IntraBio's lead compound (IB1001) is characterized by a well-established safety and tolerability profile and has a unique potential to address the underlying neurological symptoms and manifestations across a spectrum of genetic and common disorders.

Recent breakthroughs in gene therapy are saving lives, but there's still a long way to go. At Chameleon, their goal is to ensure every child can be treated with lower doses and accurate target specificity over time as their condition requires.

Chameleon's patented EVADER platform technology is a brand-new approach to gene therapy that overcomes existing treatment barriers. EVADER technology effectively cloaks the current standard of care treatment capsid by:

• Shielding the capsid from antibodies
• Reducing antibody production
• Masking foreign proteins to increase tolerance

Amicus Therapeutics (Nasdaq:FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering high-quality medicines for people living with rare metabolic diseases.

The core science for these neurological Lysosomal programs leverage the AAV technologies and platforms utilized in the neuromuscular space at NCH and have robust pre-clinical proof of concept for their application in Batten disease:

• Clinically validated AAV gene therapy approach by Dr. Brian Kaspar and team at NCH and Sanford
• Preclinical safety and efficacy studies replicated across multiple diseases at NCH
• Amicus applying platform to Multiple Types of Batten disease and other Neurologic LSDs

To discover, develop and provide innovative products and services that save and improve lives around the world.

TRPML1 is a key lysosomal ion channel that is believed to play a role in lysosomal function by promoting autophagy and lysosomal exocytosis. Alterations in TRPML1 function have been implicated in several neurodegenerative diseases and dystrophies, where intracellular accumulation of proteins or fats have been shown to be toxic to the cell.

E•SCAPE Bio is a clinical-stage biopharmaceutical company focused on the discovery and development of precision small molecule therapies to treat genetically defined subpopulations in neurodegenerative diseases.

ESB1609 is a novel, orally-administered, brain-penetrant and selective sphingosine-1-phosphate 5 (S1P5) receptor agonist being developed for Niemann-Pick C disease (NPC) and potentially other neurodegenerative disorders.

Evox Therapeutics is a privately held, Oxford-based biotechnology company focused on improving the natural delivery capabilities of exosomes, and developing an entirely new class of therapeutics.

Exosomes are increasingly seen as foundational transporters in the human body’s communication machinery and Evox’s technology development is unwaveringly focused on exploiting this natural mechanism for creating a novel form of biotherapeutics. Exosomes can transport various types of biomacromolecules – for instance, protein and RNA therapeutics – but also various types of small molecule drugs. Crucially, exosomes have also been found to improve the uptake of molecules across natural barriers such as the blood-brain barrier. Evox combines the highly versatile delivery capabilities of exosomes with targeting technology and sophisticated biomolecular engineering approaches.

ENDECE is a biopharmaceutical company developing a healthier future by addressing the needs of people suffering from debilitating and life-threatening diseases. ENDECE scientists have created a library of proprietary compounds with the ability to modify specific gene expression, and restore function.

NDC-1308 (MC2) has a Dual Mechanism of Action (MOA) that may both slow the progression of Niemann-Pick disease type C (NPC1) and potentially reverse the functional losses associated with NPC1. Using a nebulizer, NDC-1308 (MC2) will be directly delivered to the central nervous system to reduce inflammation and remyelinate patients with the two key pathologies that drive NPC1.

Edenbridge Pharmaceuticals is a well-funded specialty pharmaceutical company focused on identifying, developing, and marketing prescription pharmaceutical products.

Edenbridge is developing a full portfolio of specialty generic prescription products including Miglustat and an early stage portfolio of cyclodextrin products.