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A Race Against Time

Jessica, Addi, Peyton, Dana, Brisan, and Parker.  These are the names of children who are losing their ability to eat, to talk, to walk, to understand, and to remember.

Each of these children has a fatal, rare, genetic disease called Niemann-Pick Type C (NPC).  Because it is a progressive, neurological disorder, dementia is one of NPC’s primary symptoms.  The disease ravages the bodies and destroys the minds of the children whom it afflicts.  As a result, research into NPC also offers a profound opportunity to understand and someday to treat and cure more common forms of dementia, such as Alzheimer’s, that our parents, our grandparents, and we ourselves may face.

Scientific research into NPC holds the potential to save the lives of hundreds of thousands of people each year in this country.  At this unique moment in history, the discoveries that scientists are making to develop treatments for NPC are providing critical insights into our understanding of some of the most common and debilitating diseases known to humankind.  Here are just a few recent developments:

  • NPC attacks the body’s ability to properly metabolize cholesterol and other lipids within the cell, causing excessive amounts of cholesterol to accumulate within the liver and spleen, and excessive amounts of other lipids – or fatty tissue – to accumulate in the brain.  Alzheimer’s disease researchers at the University of Pennsylvania, University of California at Los Angeles, and at Stanford University have seen strong connections between the mechanisms underlying Alzheimer’s and those underlying NPC.  Last year, a leading Alzheimer’s researcher at New York University made a discovery that he believes makes NPC a vital source of clues to the origins of Alzheimer’s disease.
  • Researchers believe that the study of NPC, specifically its link to the metabolism of cholesterol, may be an extremely valuable way to explore heart disease.  Two Nobel Laureate scientists, experts in cholesterol transport, are so convinced that NPC research will help lead to a breakthrough for arterial disease that they have increased their lab resources devoted to the study of NPC. 

Congress allocated $24 million in 2010 to establish the Therapeutics for Rare and Neglected Diseases (TRND) program with the purpose of speeding the development of new drugs for rare diseases.  NPC was chosen as one of the pilot projects for the TRND program, with a focus on the use of cyclodextrin as a therapy.

TRND researchers are working closely with a scientific collaborative called SOAR-NPC (Support For Accelerated Research into Niemann-Pick Type C Disease) for the purpose of saving the lives of children afflicted with NPC.   These researchers are all in a race against time.  In addition to dementia and the loss of intellectual function, children afflicted with NPC are likely to experience seizures, psychosis, depression and hallucinations.  Their speech is likely to become slurred; they will have difficulty swallowing and commonly will require a feeding tube. Their median lifespan is 16 years.

The Hide & Seek Foundation for Lysosomal Disease Research created SOAR in 2008.  It is an extraordinary medical endeavor that began as a response to the dearth of treatments for this disease.  Its primary objective was to initiate a clinical trial for NPC in a three to five year timeframe. 

The SOAR Collaborative is comprised of scientists from the following three institutions leading accelerated research into NPC:  Albert Einstein College of Medicine, Washington University of St. Louis and the School of Veterinary Medicine at the University of Pennsylvania.  Consultants from the Mayo Clinic, Mt. Sinai School of Medicine, the University of Oxford’s Merton College, the National Institute of Childhood Health and Development (NICHD) and the National Chemical Genomics Center, along with investigators who have expertise in related fields of lysosomal diseases, neurodegeneration and lipid biology, complete the collaboration as adjunct investigators and research advisory committee members.  The culture of frequent communication and open scientific exchange among investigators has enabled the collaborative to be sufficiently nimble to respond rapidly to new developments in the NPC and broader scientific communities.

Typically, a new drug requires 15 years and a billion dollars to develop.  By focusing its efforts on the evaluation ofcompounds that are already approved for use by the Federal Drug Administration, SOAR has accomplished in four years what few other research projects of its sort have been able to achieve.  In those four years leading up to today’s promising state of affairs, the SOAR Collaborative and its NIH partners made great strides, including:

  • Following pre-clinical research by SOAR scientists, NIH conducted a trial that, for the first time, validated a biomarker for NPC.  A biomarker is a biological indicator of the progression of the disease; without a biomarker it would be not be feasible to conduct a clinical trial, making it almost impossible to get a drug approved by the FDA. 

The SOAR Collaborative, working with the lab of Forbes Porter, M.D., Ph.D., senior investigator at the NICHD, has become the world leader in the discovery of NPC disease biomarkers.  The markers identified to date are already transforming the way NPC disease is diagnosed, and provide critical candidate biomarkers for outcome measures in clinical trials.

With the achievement of these milestones, SOAR-NPC enters a new phase, in which SOAR-NPC will continue to play a vital role in compound evaluation and biomarker discovery, and more importantly, SOAR-NPC will emerge as a major resource for the NPC community.

  • SOAR-NPC and affiliated scientists have developed and have access to unique animal models of NPC disease, and have unparalleled expertise in the NPC community in compound evaluation, neuropathology, biomarker development, assay development and clinical trial development. Thus, the SOAR-NPC Collaborative is extraordinarily well positioned to work with both the NPC and greater scientific communities to accelerate the evaluation of promising compounds in the drug pipeline and the transition of these compounds into the clinic.
  • SOAR researchers have helped to discover and test more than 18 compounds in animal models that hold the potential to lessen the severity of NPC.  One of these compounds, cyclodextrin, has significantly lengthened the lives of mice with NPC.  This compound, it has been found, also staves off the cognitive decline that is one of the hallmarks of this neurodegenerative illness. 

The core collaborative researchers are extramural members of the TRND team at the NIH, and are developing a clinical trial of cyclodextrin.  NIH investigators and their colleagues believe that the most effective way to deliver cyclodextrin is intraventricularly, meaning directly into a ventricle of the brain.  These researchers, including two SOAR researchers, hope to begin a clinical trial of intraventricular cyclodextrin this year at the NIH.  Dr. Porter, also a member of the TRND team, is principal investigator of the planned phase 1 trial for cyclodextrin.

Even as plans for a cyclodextrin trial proceed, SOAR scientists continue their efforts to identify the next drug to be used for combinational therapy.  A number of compounds are being tested on NPC-afflicted mice in search of that next drug.  

SOAR’s progress is no small matter for the several hundred children known to be afflicted with NPC in North America, Europe and elsewhere in the world, who may or may not yet have visible symptoms of the disease.  It is also no small matter for the rest of us because of its potential to lead to breakthroughs related to heart disease and dementia.  The SOAR scientists are keenly aware that in saving the lives of these children they are translating the promise of science into the reality of drug therapies for tens of thousands of children and adults. 

At the same time, every child afflicted with NPC is a living lab, a teacher pointing the way toward effective treatments for diseases reaching far beyond his or her life.  These children may hold the key to resolving this rare disease while opening large doors to understanding diseases that touch us all.  You may not know someone afflicted with NPC. However, your child’s teacher, a relative, coworker, a friend, or you yourself may be grappling with heart disease or dementia.  A community that began with a small group of children has grown to become a powerful force.

These discoveries were accomplished with an investment of over a million dollars by the funders of SOAR, and by concerted efforts of SOAR’s sponsors and researchers to collaborate and leverage funding provided by other philanthropic and government sources.  It will cost close to $3,000,000 to fund SOAR for the project’s next 18-month phase, which involves accelerated biomarker development and iterative clinical studies, and culminates with a push for regulatory approval of NPC treatments by the FDA.

These developments are all very promising.  Funding is needed to maintain a robust pipeline of potential therapies, coordinate multiple research labs, purchase new equipment and subsidize the work of researchers.  Ultimately, the generous support of our funding partners will translate discoveries in research laboratories into life-saving treatments, and will help us to imagine a world without Niemann-Pick Type C Disease.