Wednesday, October 16, 2019

Why Washington Should Support ULTRA Act (H.R. 3737)

December 22, 2011 by  
Filed under Featured Stories

It’s great to see some representatives in Washington are finally starting to understand the real healthcare issue facing tens of millions of American’s afflicted with rare diseases. You can’t improve health if potential medications remain trapped in research and biotech’s “Valley of Death” and never reach patients.

Support ULTRA ACT and help kids like Addi and Cassi get access to drugs to treat rare diseases

This week, U.S. Representatives Cliff Stearns (R-FL) and Ed Towns (D-NY), two senior members of the Energy and Commerce Committee, introduced bipartisan legislation to help spur the development of treatments for very rare diseases. Called the Unlocking Lifesaving Treatments for Rare diseases Act or ULTRA ACT (H.R. 3737), this legislation is designed to improve access to the FDA’s Accelerated Approval process for very rare diseases, bring down drug development costs, and spur investment in the development of treatments that could lead to job creation in the U.S.

Over the last 25 years, only two or three drugs for ultra-rare diseases have been approved each year by the FDA and yet there are close to 7,000 different types of rare diseases that impact 30 million American’s.  At the current rate of approval, it will take 150 years to treat 50% of ultra-rare disorders in the database, according to the Kakkis EveryLife Foundation.  We need action in Washington and we need it now.

The ULTRA Act amends Section 506 of the Federal Food, Drug, and Cosmetic Act (21 U.S.C. 356) and does not make any changes to the Orphan Drug Act. It’s very simple legislation that could make a huge impact for millions of people.

We need a new strategy and clear the path to create new drugs to treat kids like Addi and Cassi, who suffer from a rare genetic cholesterol disease called Niemann Pick Type C.  Please learn more about the ULTRA Act and help us build Congressional support for this critical legislation and join the list of patient organizations supporting this legislation.

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From The Valley of Death to The Valley of Cures – NIH TRND Program Supports Multiple Rare Diseases

November 15, 2011 by  
Filed under Featured Stories

Thank you Dr. Francis Collins, Dr. Chris Austin, Dr. John McKew and others at the NIH who are all involved in driving the National Institutes of Health’s Therapeutics for Rare and Neglected Diseases (TRND) program forward.

Addi and Cassi suffer from Niemann Pick Type C, a fatal Genetic Cholesterol Condition that is likened to a childhood version of Alzheimer's Disease

TRND has been a huge success since launching five pilot projects last year, including one program that focuses on Niemann Pick Type C (NPC) disease.

The NPC community is grateful for the NIHs support around cyclodextrin as a treatment for NPC.  We are also excited to see six new rare disease TRND initiatives getting under way.

TRND – taking us  from the Valley of Death to the Valley of Cures. Heart TRND!

News Release From The National Institutes of Heath (NIH) regarding the TRND program

Researchers will begin drug development projects for rare and neglected diseases that include potential treatments for a musculoskeletal disorder, a cognitive dysfunction disorder, a virus that affects the central nervous system of newborns, a parasitic worm infection, a form of muscular dystrophy and a rare lung disease. The six new projects are part of the National Institutes of Health’s Therapeutics for Rare and Neglected Diseases (TRND) program.

“These projects reinforce NIH’s commitment to translational research and the need to accelerate potential new treatments that benefit patients with rare and neglected diseases,” said NIH Director Francis S. Collins, M.D., Ph.D. “It is wonderful that TRND scientists and their collaborators can advance such promising projects that may have otherwise remained stalled due to a lack of scientific or fiscal resources.”

Congress created the TRND program to facilitate the development of new drugs for rare and neglected diseases. TRND bridges the wide gap in expertise and resources that often exists between basic research discoveries and the development and testing of new drugs in human subjects. As it develops new treatments, TRND also conducts research aimed at improving the drug development process. In contrast to conventional drug development efforts, TRND will publish successes and failures so that the broader drug development community can benefit from the work done.

To develop new medicines, TRND establishes partnerships with academic, government, biopharmaceutical and patient advocacy groups. TRND and its collaborators focus on the optimization and pre-clinical development of new drugs, as needed, advancing them from Food and Drug Administration (FDA) investigational, new-drug approval to first, in-human clinical trials.

Typically, the success rate for such projects is low, with 80 to 90 percent of projects failing in the pre-clinical phase and never making it to clinical trials. This stage of drug development is called the “Valley of Death.”

TRND began five pilot projects to establish the proof-of-principle and operating protocols for the program soon after it was established in 2009. Those projects include potential treatments for the neurodegenerative disease Niemann-Pick type C, the neuromuscular disorder hereditary inclusion body myopathy, the blood disorder sickle cell disease, a rare blood cancer known as chronic lymphocytic leukemia, and the parasitic worm diseases schistosomiasis and hookworm. The chronic lymphocytic leukemia and the sickle cell disease projects have recently received investigational new drug approval from the FDA and are in clinical trials.

Earlier this year, TRND approved its first four drug development projects from its initial solicitation. They focus on potential new treatments for Duchenne muscular dystrophy, a degenerative muscle disorder; fragile X syndrome, the most common inherited form of cognitive and developmental disabilities; cryptococcal meningitis, an infectious fungal disease; and core binding factor leukemia, a rare blood and bone marrow cancer.

“TRND selects projects based on their potential to move forward into human trials and transform patient care in diseases for which there is little or no therapy,” said Christopher P. Austin, M.D., scientific director of the NIH Center for Translational Therapeutics, which oversees TRND and is administered by the National Human Genome Research Institute (NHGRI). “While such projects are high-risk, the scientific opportunities and medical needs are compelling. After rigorous scientific review, the new projects were selected to maximize the chance of success and to teach us important generalizable lessons about rare and neglected disease drug development.”

The latest TRND projects, approved by the advisory council of the National Institute of Neurological Disorders and Stroke (NINDS) on behalf of NIH, and the collaborating principal investigators are:

An inhibitor compound for treatment of fibrodysplasia ossificans progressiva.
Kenneth D. Bloch, M.D., William T. G. Morton Professor of Anesthesia
Harvard Medical School, Massachusetts General Hospital, Boston.

Fibrodysplasia ossificans progressiva is a rare inherited disorder where muscle and connective tissue such as tendons and ligaments are gradually replaced by bone. The compound under development has shown efficacy in a mouse disease model.

Novel therapy for treatment of creatine transporter deficiency.
Rick Hawkins, Chief Executive Officer
Lumos Pharma, Inc., Austin, Texas.

Creatine transporter deficiency occurs from a mutation in a creatine transporter gene that prevents the transport of sufficient levels of creatine to the brain and results in cognitive function disorder. The lead compound has been evaluated in mice with creatine transporter deficiency and resulted in improved brain metabolism and cognitive function.

A compound for treatment of neonatal herpes simplex virus.
David W. Kimberlin, M.D., Professor of Pediatrics
The University of Alabama at Birmingham.

Neonatal herpes simplex virus is an infection transmitted from mother to child during childbirth. In preliminary studies, the candidate compound that will be advanced by this group shows anti-herpetic activity and can penetrate the central nervous system. This compound has received longstanding development support by National Institute of Allergy and Infectious Diseases, including funding of the current clinical trial that will collaborate closely with TRND.

Development of a deuterium-modified compound for treatment of Schistosomiasis.
Julie F. Liu, Ph.D., Director, Research Management
CoNCERT Pharmaceuticals Inc., Lexington, Mass.

Schistosomiasis is a neglected tropical disease caused by parasitic Schistosoma worms that afflicts more than 200 million people worldwide. The disease can cause severe anemia, diarrhea, internal bleeding and/or organ damage. Neglected diseases are conditions that inflict severe health burdens on the world’s poorest people. This project aims to produce compounds that retain the positive anti-parasitic effects of the current treatment, praziquantel, which stuns and kills the worms while enabling lower and less frequent doses with potential for improved tolerability. This may allow broader access of a therapeutic to affected patients.

A drug candidate for treatment of Duchenne muscular dystrophy.
Peter Sazani, Ph.D., Executive Director of Preclinical Development
AVI BioPharma, Bothell, Wash.

Duchenne muscular dystrophy is an inherited, rapidly progressive form of muscular dystrophy affecting approximately 1 in 3,500 male births worldwide. This collaboration aims to develop a compound that would treat a sub-group of patients with a specific mutation responsible for Duchenne muscular dystrophy. The team will also investigate the general utility of this innovative treatment platform technology.

A pharmacological therapy for treatment of autoimmune pulmonary alveolar proteinosis.
Bruce C. Trapnell, M.D., Francis R. Luther Professor of Medicine and Pediatrics
Cincinnati Children’s Hospital Medical Center-Research Foundation, Cincinnati, Ohio.

Pulmonary alveolar proteinosis is a rare lung disease characterized by the build-up of a grainy material in the air sacs of the lungs that causes breathing difficulties and can result in respiratory failure in rare cases. The protein therapeutic that is the subject of this collaboration will be developed as an inhaled therapy.

TRND has established data-driven milestones for each project to track progress and allow projects which do not achieve milestones in the established timeframe to be terminated, thus allowing other promising candidates to enter the program. A project would be terminated, for example, if the new treatment fails to show effectiveness in animal models, demonstrates toxicity in preclinical testing, or is found not to have the needed bioavailability, the amount of drug absorbed by the body.

“The goal of TRND is to work closely with project partners to achieve scientific milestones that we hope will produce badly needed treatments for underserved patient populations.” said NHGRI’s John McKew Ph.D., chief of NCTT’s Therapeutic Development Branch and director of TRND.

Under TRND’s collaborative operational model, project partners do not receive grants. Instead, the partners form joint project teams with TRND and receive in-kind support from TRND drug development scientists, laboratory and contract resources.

The potential treatments are developed and modified as needed to take them through the many steps of the preclinical development process. For projects which fail to progress beyond a milestone and are terminated, efforts will be made to understand the reasons for failure, to improve our understanding of the drug development process and thus improve its efficiency. TRND projects are taken only to the point in development at which they can attract outside funding; beyond this point the partner takes the project through the remainder of clinical development and regulatory approval process.

###

TRND projects are applied for via a solicitation process. The next solicitation will open in the spring of 2012. Updated information about solicitations and project information is available at http://nctt.nih.gov/TRND.

The National Human Genome Research Institute is part of the National Institutes of Health. For more about NHGRI, visit www.genome.gov.

The National Institutes of Health (NIH) — “The Nation’s Medical Research Agency” — includes 27 Institutes and Centers and is a component of the U. S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.


Contact: Geoffrey Spencer
spencerg@mail.nih.gov
301-451-8325
NIH/National Human Genome Research Institute

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Moms Receive EU Orphan Drug Designation From European Medicines Agency For Novel Cholesterol Drug Called Cyclodextrin

September 14, 2011 by  
Filed under Featured Stories

Last year, after Dr. Caroline Hastings and I received the U.S. Food and Drug Administration orphan drug designation for Hydroxy-propyl-beta-cyclodextrin (HPBCD) for the treatment of Niemann Pick Type C disease, I was contacted by Sue French.

Addi and Cassi's Intravenous Cyclodextrin Solution - HPBCD Is A Powerful Drug

Sue lives in the United Kingdom and her son William is also afflicted with the rare and fatal genetic cholesterol disease called Niemann Pick Type C disease like Addi and Cassi.  The French family run the Niemann-Pick Research Foundation (NPRF) in the UK.

Sue and I discussed her interest in seeking compassionate use of Hydroxy-propyl-beta-cyclodextrin in the UK to treat patients like her son.  She was keen to learn more about how we are treating Addi and Cassi with cyclodextrin in the U.S.

The problem facing Sue and other families throughout the European Union (EU) is that many doctors have never heard of cyclodextrin.  They do not understand that some cyclodextrins (like HPBCD) have been discovered to be active pharmaceutical ingredients (APIs) and have massive effects when they interact with cholesterol in the human body.

While U.S. citizens look to the FDA for drug designations and approvals, in the European Union a different authority governs drugs. It’s called the European Medicines Agency or EMA.

Sue and I decided that in order to further legitimize cyclodextrin as a potentially lifesaving therapy throughout the EU for Niemann Pick Type C patients, we needed to work together to pursue an orphan drug designation from the EMA.

I discussed the concept with Dr. Hastings who was willing to support our efforts to move the EMA application forward in order to help open avenues of treatments for patients throughout the EU.  We also talked about how we could potentially utilize the combined FDA and EMA Single Orphan Drug Designation Annual Report process that was announced by both agencies in February 2010.

Sue and I began the process of re-purposing the FDA filing to create the EMA application. Sue took the lead on establishing contact with the Orphan Drug Group at the EMA and started the first draft of the EMA application.  We then had the application reviewed by Dr. Hastings and Dr. Ron Browne (a consultant we hired to help us with FDA protocol filings).

After submitting our initial draft, we held a conference call with the EMA where I had to give a presentation on cyclodextrin.  Dr. Jordi Llinares, head of Orphan Medicines at the European Medicines Agency (EMA) was on the call and provided valuable feedback on how to make the submission even stronger.

After the call, Sue and I spent the next few months going back and forth on email refining the draft (in between caring for our kids!).  We finally reached a point where we had all the data necessary data for the EMA orphan drug submission. After holding one final conference call with the EMA staff, Sue raced off to meet the deadline and submit all the documents and medical rational for cyclodextrin as a treatment for Niemann Pick Type C disease. Since we are not a pharmaceutical company, Sue acted as the “Sponsor” of the application because an EU citizen or company needs to officially apply.

In June 2011, we received a positive opinion from the Committee for Orphan Medicinal Products (COMP) for Hydroxy-propyl-beta-cyclodextrin for the treatment of Niemann Pick Type C. Seven other pharmaceutical companies seeking orphan drug designations for different products (including Novartis and Pfizer) were also listed along with us — not too shabby!

In August 2011, Dr. Hastings was the first to receive word from the EMA that our application for cyclodextrin was approved.  I was so happy, I cried.

  • To give you an idea of how amazing this is, in 2010 a total of 174 orphan applications were submitted to the EMA and 128 received the designation. The 128 applications that received the designation are potential drugs to treat over 7,000 different rare diseases that affect over 30 million people in the EU.  We have made it into an elite group with many leading pharma companies creating promising new therapies for rare diseases!

Sue and I are now back to working from our homes to move cyclodextrin clinical trials forward to prove it works in people. I work on this drug development effort right from the middle of my kitchen — no better place than the heart of your home!

Despite being on different continents, we are pushing forward cyclodextrin treatments for our children, and other NPC children like them, to give them a real chance at life.


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National Institues of Health Announces Cyclodextrin Clincial Trial For Fatal Cholesterol Disease Called Niemann Pick Type C

August 16, 2011 by  
Filed under Featured Stories

Over the past three years, many Niemann Pick Type C families as well as physicians treating NPC patients worldwide have contacted Dr. Caroline Hastings and I regarding Addi and Cassi’s treatments with hydroxypropyl-beta-cyclodextrin.

Since sharing our intravenous (IV) and intrathecal (IT) cyclodextrin treatment protocols with NPC families and doctors in the U.S. and other countries, many NPC patients have started cyclodextrin therapy.

Currently, I know of 11 NPC patients in various countries receiving cyclodextrin treatments – six are receiving intrathecal (IT) treatments to allow cyclodextrin to reach the brain.

With many Niemann Pick Type C families scattered around the world, it’s difficult for people to obtain information on cyclodextrin and determine how they might be able to get started with treatments. In the past month alone, I have been contacted by families located in Italy, Spain, Germany, Dubai and Japan and all are interested in cyclodextrin treatments.

I am writing this blog in the hopes it can help NPC families in other countries who are seeking information on cyclodextrin and help them understand how they may be able to treat their loved ones with this potentially life saving sugar compound.

NIH Announces Intracerebroventricular Clinical Trial with Cyclodextrin

In the United States, the National Institutes of Health (NIH) has announced an intracerebroventricular (ICV) clinical trial with cyclodextrin. Dr. Forbes “Denny” Porter is running the clinical trial with an NIH Bench-to-Bedside Grant and with the help of the NIHs Therapeutics for Rare and Neglected Diseases (TRND) program and the National Center for Advancing Translational Sciences (NCATS).

Details are limited on what the inclusion/exclusion criteria will be for the NIH cyclodextrin clinical trial and they are still preparing their IND for the FDA and conducting pre-clinical studies.

The exciting news for NPC families is that the NIH has announced that they will pursue delivering cyclodextrin directly into the brains of patients using an Ommaya reservoir. An Ommaya reservoir is an intraventricular catheter system – a catheter is implanted into the brain and it is attached to a reservoir implanted under the scalp.

Dosing is still being determined by work done on NPC animal models, including the naturally occurring NPC cat model. I am sure dosing will be quite similar to what we are already giving to Addi and Cassi (possibly every two week cycle) as the FDA likes to base clinical trials from animal data.  The NPC cats receive bi-monthly doses of cyclodextrin and Dr. Hastings based our initial bi-monthly IT treatment plan from the same cat studies.

Getting Cyclodextrin Into The Brain and Past Blood Brain Barrier

In my previous posts, I have detailed our plans with trying to get cyclodextrin into the twins’ brains. In October 2010, Dr. Hastings received FDA approval to start the twins on intrathecal injections of cyclodextrin into their spines. Since Addi and Cassi were the first in the world to ever receive this treatment, safety was a primary concern.

We initially started with intrathecal injections into the spine because we had to prove that the twins would not have an adverse reaction or die from an injection of cyclodextrin into their central nervous systems.  Also, intrathecal treatment was less invasive.  Per our FDA approved protocol, the twins must be hospitalized and monitored after intrathecal treatments.  At first, they were monitored for 24 hours.  Currently, we’re down to three hour observations following IT treatments.

Since October 2010, Addi and Cassi have received over 20 intrathecal injections of cyclodextrin into their spines as we work towards a permanent solution.  The twins were going deaf before we initiated intrathecal cyclodextrin therapy.  We have now restored their hearing to normal levels which is quite encouraging.

We also continue with our weekly IV infusions of cyclodextrin into their bloodstreams and are also looking for ways to deliver cyclodextrin into the lung as IV and IT treatments do not appear to reach the lung.

Medtronic SynchroMed Pump To Deliver Cyclodextrin

Over the past year, we have been creating an  intrathecal protocol with the help of Medtronic and Johnson & Johnson and plan to implement a Medtronic SynchroMed pump system to deliver cyclodextrin into the brains of the twins.  Medtronic is currently conducting final pump studies with cyclodextrin and we hope to re- submit data to the FDA and our hospital Institutional Review Board (IRB)  in September.

We are working towards a SynchroMed pump solution because the NPC mice data shows that low continuous dosing is effective in completely stopping NPC.  NPC mice are now being treated like diabetics.  Cyclodextrin may need to be given on a frequent basis (perhaps daily or even weekly). We simply don’t know.  We will start with a weekly bolus of cyclodextrin through the pump.

The Ommaya port does have many advantages, however, it does not offer frequency of dosing — it’s an access port versus an automatic system.  In addition, it is my understanding that the Ommaya  requires a patient to be in a hospital setting to receive a treatment (in the United States).  SynchroMed pump refills can be made in an outpatient setting once the pump is installed and the pump lasts about seven years.

Choosing Between Ommaya and SynchroMed

The beauty of the Ommaya system is that you know for certain that cyclodextrin is reaching the brain.  I believe the NIHs plan to pursue the Ommaya option is the right decision for the clinical trial and to determine efficacy.  I hope many NPC patients will be eligible to participate in the clinical because I believe cyclodextrin could be life saving.

Since Addi and Cassi have been receiving cyclodextrin treatments for almost three years, they will not be eligible for the NIH trial. Many other NPC patients, especially those in foreign countries, will also not be able to participate in a U.S. clinical trial and therefore may want to pursue treatments in their individual countries.

Hugh and I continue to look at a longer term and permanent solution for cyclodextrin treatments as it appears cyclodextrin will be a life-long treatment.  We are looking for a solution that provides flexibility on dosing and also keeps our kids out of a hospital setting as much as possible.

Medtronic’s data shows high catheter placement into the spine will allow cyclodextrin to reach brain and we will be taking this chance.  We  know that our intrathecal treatments in the lower spinal area are reaching the twins’ brains as we have restored the twins’ hearing to normal levels.  But there are still lots of unknowns and many risks too.  There is no easy decision and no right answer.

Also, I am not sure if an infant can get a SynchroMed pump placed so the only option may be an Ommaya. The NPC animal data shows that the sooner the animals start cyclodextrin treatment (BEFORE symptoms are evident) the healthier the animals stay.

Exciting Treatment Options

The good news for NPC patients and families worldwide is there are now promising treatment options to pursue which were not available before.  Doctors can look at both Ommaya or SynchroMed solutions to get cyclodextrin into the brain and consider these options today for their patients.

I believe we’re ultimately going to need combination therapy to treat NPC as the disease impacts every cell in the body.  We’ll need ICV or IT to reach the brain, IV to reach the organs and tissues and probably some type of inhalable HPBCD to reach the lung.

These are the options we are pursuing to try and save Addi and Cassi’s lives.  We hope this information will help other families as they look for any possible way to save their loved ones from this wretched disease.


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CureCaps Hat Project Makes First Medical Research Grants To Leading Alzheimer’s and Athersclerosis Researchers

July 25, 2011 by  
Filed under Featured Stories

Maike and Shelly of Johnson & Johnson sell hats to raise money for CureCaps project

Soon after Addi and Cassi were diagnosed with a fatal genetic cholesterol disease called Niemann Pick Type C disease, we organized a grassroots effort to collect “CureCaps” from volunteers around the world and sell them to help raise money for research into brain diseases that impact millions of people worldwide.

We want to report to our CureCaps supporters that we have made our first medical research grants of $15,000 to two world-renowned Swedish researchers, who are working in collaboration to study neurodegenerative disorders like Niemann Pick Type C.

CureCaps Research Award Recipient #1:  Dr. Kaj Blennow, University of Gothenburg, Gothenburg, Sweden

The first researcher to receive a CureCaps grant of $7,500 is Dr. Kaj Blennow, University of Gothenburg, Gothenburg, Sweden. Dr. Blennow is one of the leading Alzheimer’s researchers in the world who has spent years working to find biomarkers for Alzheimer’s disease and other neurodegenerative diseases.  Currently, there are no blood or routine clinical tests (“biomarkers”) to detect if someone has Alzheimer’s, Niemann Pick Type C disease, etc.  You can’t treat a disease if you have no way to detect it or track it over time. Dr. Blennow is developing reliable tools for diagnosis, prognosis and monitoring of therapy through the analysis of cerebrospinal fluid (CSF) biomarkers such as A-Beta and Tau.

  • “In the field of brain disorders, the development of good biomarkers can enhance the possibilities for early diagnostics and the measurement of treatment effects. In the future, this could enable clinicians to diagnose and treat Alzheimer’s disease before the person experiences any symptoms” – Dr. Kaj Blennow

Dr. Blennow and his team have taken CSF samples from Addi and Cassi and other children afflicted with Niemann Pick Type C and analyzed them for ‘biomarker signatures’ including Tau and A-Beta levels.  What they discovered in Niemann Pick Type C children is that amyloid metabolism is highly disturbed just like in Alzheimer’s disease, creating an even stronger correlation between the two neurological diseases.  Dr. Blennow and his team are looking for further correlations between the two neurological diseases and are exploring how a compound called cyclodextrin (we are treating the twins with this!) may alter amyloid metabolism.

CureCaps Research Award Recipient #2:  Dr. Ingemar Bjorkhem, Professor emeritus of Biochemical Arteriosclerosis, Karolinska Institute, Stockholm, Sweden

The second researcher to receive a grant of $7,500 is Dr. Ingemar Bjorkhem, Professor emeritus of Biochemical Arteriosclerosis, at the Karolinska Institute.  The Karolinska Institute is a medical university located in Stockholm, Sweden, and is one of Europe’s largest medical universities. It is well known because the Institute appoints the laureates for the Nobel Prize in Physiology or Medicine.

Dr. Bjorkhem studies cholesterol homeostasis in the human body.  Most people do not know this, but approximately 25% of the total amount of the cholesterol present in humans is localized to brain, most of it present in myelin. Cholesterol levels and cholesterol turnover are affected in many neurodegenerating disorders, and the capacity for cholesterol transport and recycling in the brain seems to be of importance for the development of these neurodegenerative diseases such as Niemann Pick Type C.

Dr. Bjorkhem is well known for his groundbreaking work on oxysterols, which are oxidized derivatives of cholesterol. Oxysterols are important in many biological processes, including cholesterol homeostasis, sphingolipid metabolism, platelet aggregation and apoptosis. Dr. Bjorkhem believes he has found a new type of oxysterol circulating in Addi and Cassi bloodstream.  This oxysterol is potentially related to iron metabolism so he currently looking into oxysterols in patients with other disturbances in iron metabolism (hemochromatosis).  Addi and Cassi’s may be getting iron overload and this may be a key clue not only for NPC disease, but other neurodegenerative diseases as well.

“Oxysterols are oxidized metabolites of cholesterol. These steroids are formed both enzymatically and non-enzymatically in all cells and have been ascribed a number of regulatory effects. They have been suggested to play a role in connection with atherosclerosis and neurological diseases. During the last three decades our laboratory has been involved in research on the role of the oxysterols in connection with the above diseases and we have developed a number of sensitive and accurate methods for identification and quantification of oxysterols.

Thank you to all volunteers who make and sell these hats.  While these are small grants, they are making a big impact and there is a huge return on investment.

We are making a difference not only in the lives of kids like Addi and Cassi, but millions of others too!  Winter is coming and we’re hoping to sell a lot more of the hats we have in stock!  Please keep them coming!

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