Corporate Banner
Satellite Banner
Biomolecular Screening
Scientific Community
Become a Member | Sign in
Home>News>This Article

NIH Clinical Trial Begins for Treatment of Rare, Fatal Neurological Disorder

Published: Monday, April 29, 2013
Last Updated: Monday, April 29, 2013
Bookmark and Share
Government, industry, academia, and patient groups collaborate on Niemann-Pick Type C research.

A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start, researchers announced.

Scientists from the NIH's National Center for Advancing Translational Sciences (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) will conduct the clinical trial at the NIH Clinical Center. Reaching this trial stage required collaboration among government, industry, patient advocacy groups and academic researchers.

No therapies approved by the U.S Food and Drug Administration are available to treat NPC. The disease is characterized by the inability of cells to metabolize and dispose of cholesterol and lipids.

It causes excessive amounts of cholesterol to accumulate within the liver, spleen and brain. NPC leads to progressive impairment of motor and intellectual function in early childhood. In childhood onset cases, life expectancy does not normally exceed a patient's teenage years.

"A crucial part of the NCATS mission is to collaborate within and beyond the NIH on projects to improve and accelerate the translational research process and deliver tangible improvements in human health," said NCATS Director Christopher P. Austin, M.D.

Austin continued, "The cyclodextrin project is an important step in the development of both a potential treatment for a devastating disease that ravages the bodies and minds of its victims and a more efficient way to do translational projects."

In 2009, the NIH Therapeutics for Rare and Neglected Diseases (TRND) program, which is now led by NCATS, selected NPC cyclodextrin as one of its initial pilot projects to repurpose cyclodextrin from its conventional use as an ingredient in other drugs to a therapeutic for this rare disorder.

TRND researchers work with project collaborators to conduct preclinical studies advancing potential treatments for rare and neglected diseases to human clinical trials.

TRND supported animal toxicology studies to evaluate the safety of cyclodextrin and all necessary regulatory efforts and also supported the development of an NPC biomarker.

The biomarker test detects in the blood a modified cholesterol molecule specific to neuronal cells in the brain that would increase as a result of treatment with cyclodextrin.

TRND researchers and collaborators submitted the data in an Investigational New Drug application, filed Nov. 14, 2012, that the Food and Drug Administration (FDA) has now agreed is sufficient to start a Phase I clinical trial.

"The multidisciplinary nature of this collaboration establishes a generalizable model that can be used in the pursuit of treatment candidates for rare and neglected diseases," said John McKew, Ph.D., acting director of the NCATS Division of Pre-Clinical Innovation, chief of the Therapeutic Development Branch and director of TRND. "In addition, the FDA was instrumental in helping our team move this project into human clinical trials."

The NPC Phase I clinical trial will test multiple doses of cyclodextrin in nine patients. Forbes Porter, M.D., Ph.D., senior investigator and NICHD clinical director, and Nuria Carrillo, M.D., TRND staff physician, will conduct the trial.

Dr. Porter also is conducting a natural history study of NPC to collect health information from patients to understand how the disease develops. The natural history study is critical to understanding the clinical significance of a treatment for NPC patients.

"Initiation of this clinical trial is the culmination of two decades of basic and clinical research to understand and develop therapies for NPC," said Porter. "The efforts of the collaborators who make up the TRND NPC team have greatly accelerated translating cyclodextrin from the laboratory to the clinic."

The goal of the Phase I clinical trial is to determine a safe dose of cyclodextrin that will support an expanded Phase II trial to begin to evaluate the effectiveness of the drug.

The team already is in the initial stages of collaborating with the Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT), which is administered by the NIH's National Institute of Neurological Disorders and Stroke, to plan a Phase II multicenter trial.

The NPC cyclodextrin project was made possible by a collaborative approach that also included - in addition to NCATS, NICHD, National Institute of Neurological Disorders and Stroke (NINDS) and the FDA - the NIH's National Human Genome Research Institute; Johnson and Johnson Pharmaceutical Research & Development; Washington University in St. Louis School of Medicine; Albert Einstein School of Medicine, New York City, and University of Pennsylvania, Philadelphia.

A number of family support groups have made significant contributions as well that have led to the launch of the clinical trial through the funding of NPC research and patient support. They include the Ara Parshegian Medical Research Foundation, the International Niemann Pick Disease Alliance, the National Niemann Pick Disease Foundation, and Support Of Accelerated Research for Niemann -Pick Type C.

The NPC clinical trial is the fourth TRND project to advance to human clinical trials in the last 15 months. The three other clinical trials are evaluating treatments for sickle cell disease, chronic lymphocytic leukemia and hereditary inclusion body myopathy. TRND has a portfolio of 14 projects, which focus on rare and neglected tropical diseases.

Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,500+ scientific posters on ePosters
  • More than 5,200+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Untangling a Cause of Memory Loss in Neurodegenerative Diseases
The mouse study identifies a possible therapeutic target for a family of disorders.
Thursday, October 13, 2016
Detecting Bacterial Infections in Newborns
Researchers tested an alternative way to diagnose bacterial infections in infants—by analyzing RNA biosignatures from a small blood sample.
Wednesday, September 14, 2016
Finding Compounds That Inhibit Zika
Researchers identified compounds that inhibit the Zika virus and reduce its ability to kill brain cells.
Wednesday, September 14, 2016
Seeking Innovation to Combat Antimicrobial Resistance
Federal prize competition, with $20 million in prizes, seeks to develop new laboratory diagnostic tools to detect and distinguish antibiotic resistant bacteria.
Friday, September 09, 2016
$12.4M Awarded to Neural Regeneration Projects
The National Institutes of Health will fund six projects to identify biological factors that influence neural regeneration.
Friday, September 02, 2016
How Parkinson’s Disease Alters Brain Activity Over Time
The NIH study provides a new tool for testing experimental medications aimed at alleviating symptoms and slowing the rate at which the diseases damage the brain.
Tuesday, August 16, 2016
Developing Software for Drug Development
NIH-led researchers develop software that could facilitate drug development to identify molecules that bind with high precision to targets of interest.
Monday, August 01, 2016
Molecule May Affect Gaucher, Parkinson's Disease
Research has identified a molecule that restores activity of a dysfunctional enzyme linked to Gaucher and Parkinson's disease.
Wednesday, July 27, 2016
Treatment Advancement for Gaucher and Parkinson's Diseases
NIH scientists identify molecule that may act as a possible treatment of neurological diseases.
Wednesday, July 13, 2016
Advancing Protein Visualization
Cryo-EM methods can determine structures of small proteins bound to potential drug candidates.
Friday, May 27, 2016
Visualizing a Cancer Drug Target at Atomic Resolution
Using cryo-electron microscopy, researchers were able to view, in atomic detail, the binding of a potential small molecule drug to a key protein in cancer cells.
Wednesday, February 10, 2016
Genomic Signature Shared by Five Types of Cancer
National Institutes of Health researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
Monday, February 08, 2016
Experimental Combination Surprises with Anti-HIV Effectiveness
A compound developed to protect the nervous system from HIV surprised researchers by augmenting the effectiveness of an investigational antiretroviral drug beyond anything expected.
Monday, January 25, 2016
NIH Unveils FY2016–2020 Strategic Plan
Detailed plan sets course for advancing scientific discoveries and human health.
Thursday, December 17, 2015
Biomarkers Outperform Symptoms in Parsing Psychosis Subgroups
Multiple biological pathways lead to similar symptoms - NIH-funded study.
Thursday, December 10, 2015
Scientific News
Tumor Markers Reveal Lethality Of Bladder Cancers
Researchers found that detection of certain tumor cells in early stage cancers helps identify high-risk cancers.
Preventing "Friendly Fire" in the Pancreas
Researchers inhibit process that leads to the body attacking its own insulin-producing cells.
Drug Target for Triple-Negative Breast Cancer Found
A team of researchers led by UC San Francisco scientists has identified a new drug target for triple-negative breast cancer.
Smartphone Laboratory Detects Cancer
Researchers develop low-cost, portable laboratory on a smartphonecapable of analysing multiple samples simultaneously.
First Entirely 3D-printed Organ-on-a-Chip with Integrated Sensors
New approach to manufacturing may allow researchers to rapidly design organs-on-chips that match the properties of a specific disease or individual patient's cells.
Bacterial Genes Boost Current in Human Cells
Borrowing and tweaking bacterial genes to enhance electrical activity might treat heart, nervous system injury.
Targeting Cannabinoid CB2 Receptors in the CNS
With endogenous cannabinoids considered as a potential target to combat CNS diseases, this article examines the role of CB2R could play in fighting some disorders.
Less Frequent Cervical Cancer Screening
HPV-vaccinated women may only need one screening every 5 to 10 years with screening starting later in life.
Cocoa Compound Linked to Some Cardiovascular Biomarker Improvements
The study highlights the urgent need for large, long-term RCTs that improve understanding of how the short-term benefits of cocoa flavanol intake on cardiometabolic biomarkers may be translated into clinical outcomes.
Untangling a Cause of Memory Loss in Neurodegenerative Diseases
The mouse study identifies a possible therapeutic target for a family of disorders.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,200+ scientific videos