Unlocking Hope for NPC Disease: The Mission of SOAR-NPC
Support Of Accelerated Research for Niemann-Pick C, or SOAR-NPC, was created in 2007 by dedicated parents, advocates, scientists, and researchers as a grassroots response to the absence of treatments for this terminal disease.
The number one goal of SOAR-NPC is to work as quickly as possible to find evidence-based treatments and, ultimately, a cure for Niemann-Pick Type C disease, a rare neurological illness.
SOAR scientists are internationally recognized in NPC research from institutions including the University of Illinois Chicago, the University of Michigan, the University of Iowa, the UF College of Veterinary Medicine, and the National Institutes of Health.
SOAR family foundations are dedicated to raising money and awareness to combat this deadly disease.
Understanding NPC Disease
Niemann-Pick disease, type C (NPC) is a rare, devastating, neurodegenerative disease. Mutations in either the NPC1 or NPC2 proteins disrupt the body’s ability to transport cholesterol and other lipids within cells. NPC1 mutations represent 95% of cases and NPC2 mutations represent 5% of cases. This buildup of lipids in various organs, including brain, liver, and spleen, leads to a wide range of debilitating symptoms. NPC is a progressive neurological disease and over the course of years, individuals lose their ability to walk, talk, eat, and eventually become completely reliant upon caregivers. There is currently no known cure for NPC, making ongoing research and support essential to improve the lives of those affected by this condition.
Who We Are
Our mission is to change the lives of those affected by NPC disease. We bring together diverse perspectives and an openly collaborative spirit to drive innovative therapies for this rare and devastating condition.
Foundations & Families
The Marella Family — DART: Dana’s Angels Research Trust
The Koujaian Family
The Recke Family — Race for Adam
The Berns Family
The Hide & Seek Foundation
Collaborative Scientists
Forbes D. Porter, PhD, MD
Andrew Lieberman, MD, PhD
Charles Vite, BS, DVM, PhD
Stephanie Cologna, PhD
Mark Schultz, PhD
Cristin Davidson, PhD
Antony Cougnoux, PhD
Wenping Li, PhD
Foundations & Families
The Marella Family — DART: Dana’s Angels Research Trust
The Koujaian Family
The Recke Family — Race for Adam
The Berns Family
The Hide & Seek Foundation
Collaborative Scientists
Forbes D. Porter, PhD, MD
Andrew Lieberman, MD, PhD
Charles Vite, BS, DVM, PhD
Stephanie Cologna, PhD
Mark Schultz, PhD
Cristin Davidson, PhD
Antony Cougnoux, PhD
Wenping Li, PhD
How You Can Help
SOAR-NPC relies on the generosity and support of individuals like you to continue our critical work. Your donations fund research, propel breakthroughs, and bring us closer to a cure. Here’s how you can make a difference:
Donate Now
Every donation, no matter the size, has a significant impact. (Make your contributions here. Or visit soar-npc.org to learn more about our work, the collaborative scientists, the families we support, and how you can get involved.
Spread Awareness
Share our mission and knowledge about NPC disease with your community.
Donate Now
Every donation, no matter the size, has a significant impact. Learn more about our work, the collaborative scientists, the families we support, and how you can get involved.
Spread Awareness
Share our mission and knowledge about NPC disease with your community.
Your support directly contributes to the following projects aimed at advancing our understanding and treatment of NPC disease.
Development of calbindin D assay by Cologna laboratory
SOAR provided $125,000 to the Cologna lab to establish a mass spectrometry-based assay for measuring calbindin D levels in the cerebrospinal fluid of NPC1 individuals. This research aims to identify correlations between calbindin levels, disease progression, and therapeutic outcomes.
Preclinical Collaborative among Schultz, Cologna, and Lieberman laboratories
SOAR provided $25,000 per lab in 2022 and $50,000 per lab in 2023 for collaborative efforts. Dr. Schultz conducts compound screening on human iPSCs-induced neurons (iNeurons), with promising compounds forwarded to the Cologna lab for lipids and proteins analysis. The Lieberman lab evaluates the efficacy of identified compounds in NPC mouse models.
NPC1 cat studies in Vite Laboratory
SOAR provides $50,000 to the Vite lab to carry out studies using the NPC1 cat model, focusing on gene therapy using AAV9, Adrabetadex, Efavirenz, and other treatments.
ACAT/SOAT1 reduction as therapy for NPC disease
SOAR provided $69,000 to the Chang lab to evaluate the effect of ACAT inhibitors in NPC1 mice, building on previous research indicating potential benefits from inhibiting ACAT1 activity.
Chameleon Biosciences study at a Contract Research Organization
SOAR invested approximately $70,000 in study at the Jackson Laboratory on behalf of Chameleon Biosciences to determine which CTL-A immune checkpoint elicits the lowest immune response in wildtype mice.
Combination therapy of Adrabetadex and Acetyl-L-Leucine
SOAR funded the Platt lab with $13,000 to investigate the potential for additive benefits of Adrabetadex and Acetyl-L-Leucine when delivered as a combination therapy.
Efavirenz in NPC clinical trial
SOAR is providing $35,000 to support continuation of the Phase I clinical trial in Spain for a second year. Collaboration between the lead clinician, Dr. Gascon, and the SOAR researchers will allow analysis of cerebrospinal fluid to measure 24-hydroxycholesterol levels, important for determining target engagement.
Bloomsbury Gene Therapy Optimization of Vector Production
SOAR invested $70,000 with Bloomsbury Gene Therapy to support studies necessary for viral plasmid production and expansion crucial for NPC gene therapy.
Hire Exceptional Researcher
SOAR invests in hiring top-tier researchers for collaborative laboratories. Dr. Antony Cougnoux, a talented scientist with over a decade of experience in NPC research, recently joined the Porter laboratory, contributing to small molecule screening for potential therapeutic treatments and -omics based projects to better understand NPC disease course.
Development of calbindin D assay by Cologna laboratory
SOAR provided $125,000 to the Cologna lab to establish a mass spectrometry-based assay for measuring calbindin D levels in the cerebrospinal fluid of NPC1 individuals. This research aims to identify correlations between calbindin levels, disease progression, and therapeutic outcomes.
Preclinical Collaborative among Schultz, Cologna, and Lieberman laboratories
SOAR provided $25,000 per lab in 2022 and $50,000 per lab in 2023 for collaborative efforts. Dr. Schultz conducts compound screening on human iPSCs-induced neurons (iNeurons), with promising compounds forwarded to the Cologna lab for lipids and proteins analysis. The Lieberman lab evaluates the efficacy of identified compounds in NPC mouse models.
NPC1 cat studies in Vite Laboratory
SOAR provides $50,000 to the Vite lab to carry out studies using the NPC1 cat model, focusing on gene therapy using AAV9, Adrabetadex, Efavirenz, and other treatments.
ACAT/SOAT1 reduction as therapy for NPC disease
SOAR provided $69,000 to the Chang lab to evaluate the effect of ACAT inhibitors in NPC1 mice, building on previous research indicating potential benefits from inhibiting ACAT1 activity.
Chameleon Biosciences study at a Contract Research Organization
SOAR invested approximately $70,000 in study at the Jackson Laboratory on behalf of Chameleon Biosciences to determine which CTL-A immune checkpoint elicits the lowest immune response in wildtype mice.
Combination therapy of Adrabetadex and Acetyl-L-Leucine
SOAR funded the Platt lab with $13,000 to investigate the potential for additive benefits of Adrabetadex and Acetyl-L-Leucine when delivered as a combination therapy.
Efavirenz in NPC clinical trial
SOAR is providing $35,000 to support continuation of the Phase I clinical trial in Spain for a second year. Collaboration between the lead clinician, Dr. Gascon, and the SOAR researchers will allow analysis of cerebrospinal fluid to measure 24-hydroxycholesterol levels, important for determining target engagement.
Bloomsbury Gene Therapy Optimization of Vector Production
SOAR invested $70,000 with Bloomsbury Gene Therapy to support studies necessary for viral plasmid production and expansion crucial for NPC gene therapy.
Hire Exceptional Researcher
SOAR invests in hiring top-tier researchers for collaborative laboratories. Dr. Antony Cougnoux, a talented scientist with over a decade of experience in NPC research, recently joined the Porter laboratory, contributing to small molecule screening for potential therapeutic treatments and -omics based projects to better understand NPC disease course.
Our Vision & Scientific Milestones
We envision a world where NPC disease is treatable and affected individuals can live healthier, fuller lives. Our relentless dedication to this vision has driven us to achieve significant milestones:
Research Breakthroughs
We’ve pioneered groundbreaking discoveries, such as understanding critical differences in the way NPC1 mutant proteins are trafficked within cells of animals compared to humans. This knowledge is essential for developing effective therapies and understanding which models are best aligned for evaluating specific treatments.
We also provided foundational studies to support the Investigational New Drug (IND) application for Adrabetadex which helped move this compound from the preclinical realm into a Phase 1 clinical trial at the National Institutes of Health.
Leading Gene Therapy
We are currently the only academic collaboration in the United States pursuing gene therapy for NPC1 Disease. Our researchers are working tirelessly to optimize AAV9 administration for this NPC1 disease and to identify biomarkers which will help evaluate therapeutic efficacy. We anticipate this strong data set will be instrumental for application of an IND for gene therapy to treat NPC1 disease.
Biomarker Development
SOAR-NPC actively collaborates with the NPC and wider rare disease communities as well as with the FDA, advocating for the inclusion of biomarkers in clinical trials. Our scientists are at the forefront of biomarker development, moving from discovery to qualification or validation with several promising markers under evaluation.
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