DART’s Research Studies

See the latest SOAR-NPC news!

DART is taking the lead in committing to a unique therapy development approach for additional NPC treatments called SOAR, Support Of Accelerated Research. Working with other NPC families and organizations, SOAR has created a multidimensional collaborative drug development program searching for an effective cocktail treatment for NPC. The ambitious, original goal was to have at least one new NPC therapy ready for clinical trial in 2013.  With the start of the FDA approved Phase 1 clinical trial of VTS-270 (a proprietary for of 2-hydroxypropyl-ß-cyclodextrin) at the National Institutes of Health in January of 2013, and more hopeful therapies in our pipeline, our goal of a “drug cocktail” are starting to take shape.

See the latest Accelerator news!

DART is also one of the founding members of the NPC Therapy Accelerator Initiative.

The NPC Community is experiencing unprecedented investment and progress in developing treatments for the disease. Today, a number of companies have NPC programs underway (see the listing on the NPC Therapy Accelerator site), two of which are in later stages of regulatory review with the FDA. Additionally, there are a number of preclinical programs being funded and supported by NPC organizations, government grants, or investors. There are also a number of collaborative research programs established to tackle key aspects of the disease that are being managed by various organizations and research groups. Phil Marella of DART is a member of the Accelerator’s steering committee.

The goals of the Accelerator are to:

  • Provide easily accessible information from all companies willing to share their NPC therapy pipeline;
  • Inform companies on how to engage with the committee, and the benefits of working with the Accelerator as a resource to help them connect with NPC researchers, clinicians, tools, data, mentors, and even potential investors;
  • Compile all major NPC publications that physicians and scientists use to advance their research program and launch a clinical trial;
  • Provide shared space for all NPC initiatives and data, and ultimately bring this information together in a shared data platform;
  • Provide relevant updates for research funding opportunities; and
  • Develop NPC patient and caregiver treatment preferences for the FDA and drug companies.

See our Grant Guidelines

Watch this video and read about the hopes and advancement of the VTS-270 trial below.

There was a large, collaborative effort to initiate a clinical trial of 2-hydroxypropyl-ß-cyclodextrin (HPBC) at the National Institutes of Health (NIH) to systematically evaluate the safety and efficacy of HPBC therapy for the treatment of NPC. The exceptional work that was done in NPC animal models guided the design of a human clinical trial.  Together with the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, the collaborative team got approval from the FDA for Investigational New Drug (IND) clinical trial.

The HPBC Phase 1/2 trial started in January 2013, and after some complications with the inter-cranial delivery methode, the trial resumed in the Fall of 2013.  The Phase 2/3 trial of VTS-270 by Vtesse, now owned by Mandos, a pharma startup created just for this effort.  We hope that all of the data will provide for FDA approval by 2023.

Andrew Marella Receives VTS-270 Infusion – October 2015 

Other efforts:

· DART has funded for two years (jointly with APMRF the first year) research at Dartmouth College into a novel pathway for treating NPC which we hope will add a new treatment option for our eventual drug cocktail to cure NPC.

· DART and it’s SOAR-NPC collaborators are providing funding for a study to test a potential biomarker in patients’ spinal fluid that might help accelerate and provide much needed proof of the efficacy of potential treatments in drug trials.

· DART funding helped develop a blood test for NPC, that is now the basis for a newborn screen effort for NPC.

· The NPC community has helped to launch the largest US newborn pilot testing program, thanks to the leadership of the Firefly Fund and its founders, the Andrews family of Austin, Texas, with financial assistance from the Ara Parseghian Fund, DART and others.

· DART and it’s SOAR-NPC partners also funded initial research into possible gene therapy for NPC at Albert Einstein College of Medicine and the University of Pennsylvania. The inital efforts have lead to a robust gene therapy program in collaboration with the NIH that we hope will lead to clinical trials in 2023.

· Funding jointly with the Parseghian Foundation:

· A study at Weill Cornell into potential chaperone therapies for NPC.

· Two-year post-doctoral fellowships in neurology at two renowned research institutions; The Scripps Research Institute in La Jolla, California, and at the University of Texas Southwestern Medical School in Dallas, Texas.

· Funding for the contracted nurse support for the NPC observational study at the National Institutes of Health in Dr. Forbes Porter’s lab, looking for potential disease markers and even therapies from the detailed, periodic evaluation of children with NPC.

· Important studies looking for markers of the progression of NPC in cats afflicted by NPC and potential therapies to extend the lives of the afflicted cats at the University of Pennsylvania.

· DART’s study at Columbia University involved a natural compound, ubiquinone or Coenzyme Q10 in humans. The goal of the study was to understand the benefit, if any, of CoQ10 as an NPC therapy.

· At the University of California, San Francisco, DART and NNPDF, funded research related to the potential use of the drug Prozac, as a therapy for NPC. Unfortunately, they found that Prozac treatment had no effect on the lifespan of the NPC mice nor how the mice gained and lost weight over the course of their lifetime, or in their motor coordination and locomotion.

The Benefits of Niemann-Pick Type C Research

Niemann-Pick Type C (NPC) is a rare genetic disease. But there is growing interest in NPC from researchers in many fields. Why? Because of its connection to metabolism – especially cholesterol and other lipid metabolism.

HIV/AIDS and Ebola: The NPC protein is critical for the normal trafficking of cholesterol in all of the cells in our bodies. Research shows that viral release from infected cells lacking the functional NPC protein is severely impaired. For example, chemical creation of the NPC defect in HIV-infected cells has resulted in drastically reduced HIV-1 release, indicating that the NPC protein associated with cholesterol trafficking is required for HIV release. Thus, further studies may provide the basis for the identification of therapies for HIV/AIDS, Ebola and similar diseases.

Alzheimer’s: Alzheimer’s and NPC are progressive neurological diseases with similar effects on the brain. Recent studies comparing the two diseases discovered that Alzheimer’s is closely tied to a failure in cholesterol metabolism – the very process that is central to NPC. More researchers need to be looking to NPC to learn about the basic causes and early progress of Alzheimer’s.

Heart Disease and Stroke: We all know that high cholesterol is the main cause of heart disease and stroke. But until the gene that causes NPC was discovered, researchers had few opportunities to identify the complex processes that regulate cholesterol. How does the body know if it has too much cholesterol or too little? NPC research is beginning to provide answers.

Other Storage Diseases: NPC is one of 46 storage diseases estimated to affect more than 55,000 people. Some of the other better-known storage diseases are: Fabray, Gaucher, Hurlers, Pompe and Tay-Sachs. All are rare so, in some cases, little or no research is being done. However, all of these diseases have certain features in common. That means that research in one area can lead to breakthroughs for all.

The impact of NPC research, funded by your donations, goes well beyond helping those suffering from Niemann-Pick. It promises hope to other rare disease sufferers and to those of us currently in good health who may one day experience the ravages of HIV/Aids, heart disease, stroke or Alzheimer’s.

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