Global Genes Project Logos To Support Rare Disease Day 2011 Now Available

When I opened my in-box today,  I received  the Global Genes logos to support Rare Disease Day 2011 from the Global Genes Project.  The logos are so cool — the work is being done by an amazing strategic communications consultancy and reputation management firm called Charleston | Orwig.

The rare disease community is incredibly lucky to have such great people trying to help educate the world on rare diseases that affect millions of people worldwide.  The majority of the 7,000 different rare diseases we know of are genetic in origin — that’s why the Global Genes Project is using jeans and denim as their awareness theme!

My entire family and a bunch of friends will be involved in the “Wear That You Care” denim campaign and will wear jeans and jean ribbons on Rare Disease Day on February 28, 2011. I have been asked to speak on Rare Disease Day at Pfizer’s event in Boston and you’ll find me in my jeans and wearing my denim blue ribbon!

Please show your support by displaying this Global Genes logo for Rare Disease Day on your website and raise awareness for all people with rare diseases.

National Institutes Of Health to Host Rare Disease Day Event; Dr. Francis Collins To Speak; Wear Jeans!

The National Institutes of Health (NIH) will celebrate the 4rd Rare Disease Day on February 28, 2011, with a day-long celebration and recognition of the various rare diseases research activities.  The event will be held in the Lipsett Amphitheater from 8:30am to 5:15pm. Dr. Francis Collins is expected to speak. A tentative agenda has been posted.

In association with the Global Genes Project, the NIH Office of Rare Diseases Research is encouraging all attendees to wear their favorite pair of jeans to the event to support the Global Genes Project awareness campaign.  The Global Genes Project awareness campaign is designed around a denim blue jeans theme and a blue denim ribbon which has become the unifying symbol of hope for the rare disease community worldwide.  Check out our kid volunteers who make ribbons!

Denim blue ribbons will be distributed at the event and the Global Genes Project will be bringing some of the 7000 Bracelets of Hope which have also been made by volunteers around the world to represent the 7000 rare diseases that afflict an estimated 250 million people globally.

Supporters from the NIH Clinical Center, the NIH Institutes and Centers, the Health Resources and Services Administration (HRSA), the Food & Drug Administration’s Office of Orphan Product Development (OOPD), the National Organization for Rare Disorders (NORD), and the Genetic Alliance will also be at the event.

Attendance is free and open to the public. Unfortunately, I will not be able to attend as Pfizer is holding a Rare Disease Day 2011 event the same day and I have been invited to speak along with other rare disease advocates.

From Hospital To Home on Christmas

We started Christmas Eve day in the San Francisco Bay Area at Children’s Hospital Oakland where Dr. Caroline Hastings gave Addi and Cassi their sixth injections of cyclodextrin into their central nervous systems.

By 1 pm, Addi and Cassi were feeling a lot better and we raced home on Highway 80 up over Donner Summit, arriving home just in time for Santa’s visit at 7pm.

Here are some of our pictures from Christmas 2010.  We are so blessed to have our little angels in our life.

We hope you all have a very nice Christmas and Happy New Year.

The Hempel Family

FDA Approves Request For New Cyclodextrin Treatment For Niemann Pick Type C

FDA Approval Received!

Children’s Hospital Oakland Receives FDA Clearance to Begin World’s First Cyclodextrin Administration Into the Brains of Twins with Rare and Deadly Cholesterol Disease

Sugar Molecule Used In Common Food and Household Products Like Febreze® Fabric Refresher Called Hydroxypropyl Beta Cyclodextrin (HPßCD) Will be Delivered into Twins’ Central Nervous System in an Attempt to Stop Neurological Progression of Niemann Pick Type C Disease

September 23, 2010 – Oakland, Calif. – Children’s Hospital & Research Center Oakland announced today that the US Food and Drug Administration (FDA) has granted clearance of an Investigational New Drug (IND) application to introduce Trappsol® Cyclo™ (Hydroxypropyl Beta Cyclodextrin or HPßCD) into the brains of six year old identical twin girls dying of a rare brain-destroying cholesterol disease called Niemann Pick Type C (NPC). Known as “childhood Alzheimer’s,” NPC is a deadly progressive neurological condition that causes severe dementia and other debilitating symptoms in children. The FDAs approved use of Trappsol® Cyclo™ marks the first time in medical history that HPßCD will be delivered directly into the brain of a human being in an attempt to arrest a progressive and fatal neurological condition.

Within days, Addison and Cassidy Hempel will travel from their home in Reno, Nev., to Children’s Hospital Oakland to start ongoing injections of Hydroxypropyl Beta Cyclodextrin (HPßCD) into their central nervous systems. Initially, the twins will receive six cyclodextrin treatments of Trappsol® Cyclo™ via lumbar injection over a 12-week period. If Trappsol® Cyclo™ is well tolerated and no adverse side effects occur, the twins are then expected to undergo brain surgery to implant access ports allowing HPßCD to be delivered into the brain’s ventricle system.

HPßCD is a ring of seven sugar molecules known as a cyclic oligosaccharide that is derived from starch. Derivatized cyclodextrins are used extensively in research labs to remove cholesterol from cultured cells and are well known in the pharmaceutical industry for their ability to solubilize drugs. Underivatized cyclodextrins are used throughout the food industry to make cholesterol-free products, such as fat-free butter, eggs and milk products. HPßCD is recognized as a GRAS (Generally Recognized As Safe) material for use in food products in Asian and European countries and is being considered for similar certification in the United States. Hydroxypropyl Beta Cyclodextrin, the chemical compound that will be administered into the twins’ central nervous system, is also an active ingredient found in Procter & Gamble’s Febreze® Fabric Refresher and is used to help eliminate odors from fabrics. Millions of people worldwide are exposed to small amounts of cyclodextrin compounds every day in food, cosmetics and household products.

“It is remarkable to be in position to try a genuine medical intervention that may retard or restore neurological function in children suffering from Niemann Pick Type C disease,” said Caroline Hastings, MD, the Children’s Hospital Oakland pediatric hematologist/oncologist who diagnosed the twins. Dr. Hastings also manages the satellite hematology/oncology clinic at Renown Regional Medical Center in Reno where the girls receive much of their treatment. “This family’s tremendous courage to move forward with this groundbreaking treatment to deliver cyclodextrin into the brains of their twins provides real hope for all children afflicted by this mind-robbing condition and possibly others suffering from cholesterol and lipid related disorders.”

In April 2009, the FDA approved an Investigational New Drug protocol that allowed Addison and Cassidy Hempel to undergo weekly intravenous infusions of Hydroxypropyl Beta Cyclodextrin into their bloodstreams through a Medi-Port catheter implanted in their chest walls. However, research conducted by David Begley, PhD, a leading blood-brain barrier expert at Kings College London, discovered that Hydroxypropyl Beta Cyclodextrin does not cross from the bloodstream into the brain. While the Hempel twins have shown improvements with ataxia and have less difficulty swallowing following intravenous intervention with HPßCD, they continue to decline neurologically and there are no other treatment options available to save their lives. The twins have lost most of their ability to speak and are experiencing intermittent seizures and dementia; however, the girls can still walk, see, and communicate to their parents with a range of sounds and gestures.

On June 13, 2010, Dr. Hastings filed a revised protocol to the Hempel twins’ Investigational New Drug applications with the FDA requesting permission to deliver Trappsol® Cyclo™ directly into the central nervous system of the twins in order to bypass the blood-brain barrier. Researchers studying Niemann Pick Type C afflicted cats and mice have discovered that when HPßCD is delivered directly into the brains of these animals, HPßCD has a remarkable life extending effect and appears to arrest the progression of this deadly neurological condition. It is currently unknown exactly how HPßCD is working to achieve these astonishing neurological effects in NPC animals or if it will have the same effect in humans.

For Chris Hempel, mother of the twins, the start of cyclodextrin treatments into the central nervous system of her twins “creates new hope that was unimaginable even a few years ago for an ultra rare disease with a certain death sentence.” Since receiving the NPC diagnosis in October 2007, Ms. Hempel has worked tirelessly with doctors and researchers around the world to search for a lifesaving treatment for her twin daughters. In May 2010, she worked with Dr. Hastings to receive one of the few orphan drug designations granted by the FDA for the compound Trappsol® Cyclo™.

“It’s extraordinary to think that a sugar compound used in common products found in my refrigerator and laundry room could have such a profound effect on human cholesterol metabolism and may actually save our daughters lives,” said Hempel. “We are incredibly grateful for the support we have received from the medical, regulatory, pharmaceutical, and academic communities who have worked to help us bridge the scientific gap and turn a treatment idea into a treatment reality.”

Approximately 500 children worldwide have been diagnosed with double genetic mutations on the Niemann Pick Type C cholesterol gene, yet what scientists learn about these children may have implications that reach far beyond this ultra rare genetic cholesterol disease. Recent published research reports of the role for the NPC1 gene in Alzheimer’s disease and human immunodeficiency virus infection (HIV) make Niemann Pick Type C disease and gene research relevant to millions of people worldwide.

Cyclodextrins – Recipes To Make Edible Nanostructures and CD MOFs To LifeSaving Drug Treatments

Kenneth Chang of the New York Times reports on researchers creating edible nanostructures with gamma cyclodextrin which researchers are calling edible CD MOF (metal-organic frameworks). Of course, another amazing discovery with cyclodextrin that was found by accident!

Potential applications with this gamma cyclodextrin (CD MOF) could include storing hydrogen in future fuel cells in cars. Interestingly, the article mentioned “drug delivery” which I am already working on with hydroxy propel beta cyclodextrin (Trappsol brand). I wonder if HPBCD could be turned into nanoparticles and cross the blood brain barrier? I wonder if this new gamma cyclodextrin nanoparticle crosses the blood brain barrier?

One of the articles quotes a researcher who made the discovery as saying, “With our accidental discovery, chemistry in the kitchen has taken on a whole new meaning!”  This statement is something I can relate to as I’ve mixed up cyclodextrin into juice and with curcumin to try and get better absorption.

The article also gives a ‘recipe” on how to make edible cyclodextrin nanostructures which I found interesting. We have our own cyclodextin recipe that I am hoping the United States Food and Drug Administration will approve within the next few weeks.  Our doctor is trying to use cyclodextrin to save the lives of my identical twin six year old girls who suffer from Niemann Pick Type C, a rare and fatal genetic cholesterol disease that causes dementia in children.

When cyclodextrin is given intrathecally into cats and mice suffering from Niemann Pick Type C disease, hydroxy propel beta cyclodextrin arrests the neurological progression of the disease! When was the last time you heard of a compound or drug arresting the neurological progression of a disease like Alzheimer’s, Parkinson’s or ALS?

Here is the simple recipe we have proposed to the FDA:

Cyclodextrin To Stop Brain Neurodegeneration In Fatal Cholesterol Disorder

1. Dissolve 175 mg of hydroxy propel beta cyclodextrin (Trappsol brand) into 6 ml sterile saline

2. Put into sterile tube

3.  Inject via lumbar puncture into central nervous system

4. Repeat with dose escalations by adding 17.5 mg of HPBCD every two weeks until concentrations of 5 mM are achieved

5. Test central spinal fluid for reductions in A-beta levels, total T-Tau levels and other biomarkers such as the oxysterol called 7 ketocholesterol

6. Conduct neurological assessments on twins to see if speech returns, seizures and gelastic cataplexy reduce, etc.

7. For complete FDA filing with full instructions, contact me: chris@hempelfamily.com

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