Addi & Cassi Appear On November Cover of “The Scientist”

 

Our sincere thanks to Alison McCook along with the editors, designers and publisher of The Scientist for this incredibly well written story that takes an in-depth look at Niemann Pick Type C disease and explores the possibility that NPC research could provide insights into the mechanisms and potential therapies for Alzheimer’s disease.  You can read the entire story on The Scientist website (free registration). To download a PDF version of the November 2008 issue of The Scientist article, choose one of the following links:

• High Resolution good for printing (10mb)
• Medium Resolution good for reading (3mb)
• Low Resolution good for dial-up connections (900kb)

 

Sphingosine and Calcium Defect Causes Niemann Pick Type C, Cholesterol Downstream Effect Of The Disease

In a recent issue of Nature Medicine, Oxford University reports that Niemann Pick Type C disease is a sphingosine storage disease that causes deregulation of lysosomal calcium.  According to Oxford researchers, there is a block in the late endosome to lysosome transport in NPC disease, resulting in the downstream storage of cholesterol and glycosphingolipids (a lipid derived from a ceramide that contains a carbohydrate such as glucose or galactose).

For the lay person, this means that cholesterol is not the ultimate culprit in Niemann Pick Type C disease — there is a cascade of events happening in the cell with sphingosine using up the calcium in the cell which then triggers a cholesterol traffic jam in the cells of NPC patients. Oxford conducted extensive studies and published a paper which shows many complex experiments.One experiment showed that Curcumin is helping to correct the loss of calcium and rejuvenate the calcium in the cell.

Typically, NPC mice die at 13 weeks of age.  Above is a picture of a 9 week old Niemann Pick Type C mouse — the one on the top is not treated with Curcumin, the one on the bottom has been treated with Curcumin.  Curcumin is obviously extending its life.  Curcumin is considerd a "spice or supplement," not classified as a drug. This is amazing research by Oxford and I am grateful for their research as my 4 year old identical twin girls, Addi and Cassi, are on high doses of bioavailable Curcumin (delivered to them 2x a day in applesauce!)

The data from Oxford suggests we must pursue a new clinical intervention strategy for treating Niemann Pick Type C, this horrible neurological disorder that is trying to take the lives of my precious twins. What Oxford has also shown us is that NPC patients potentially have another "treatment option" available to them in addition to Zavesca. For many NPC patients who have no access to drugs of any kind, Curcumin could help their suffering children.  Non-toxic drugs similar to myriocin that reduce sphingosine levels could be a therapeutic targets for NPC patients or drugs that act to reguvinate the calcium in the cell could help as well.

If you have a brain disease and have been told that Curcumin can help you and are interested in obtaining the bioavailable Curcumin UCLA Alzheimer’s reseachers have developed for humans, contact Verdure Sciences.  As I reported in my last blog, Verdure Sciences has a compound of bioavailable Curcumin that crosses the formidable blood brain barrier in humans.

Dr. Phil’s “The Doctors” Show To Bring Childhood Alzheimer’s Into National Spotlight

 

On Monday, September 22nd, 2008, our family will featured on "The Doctor’s," a new Dr. Phil spin-off television show that is in its first season.  Addi and Cassi’s battle against Niemann Pick Type C, also known as the "Childhood Alzheimer’s" disease, will be discussed and we will appear as guests on the show.   Addi and Cassi will also make an appearance towards the end of the segment — you can see the girls getting into all the apples on the set!   Watch us now.

Thank you so much to The Doctor’s and to Dr. Phil for helping create this new show to bring reliable medical and health advice to our nation.   We hope this new show will help generate national awareness of our fight to beat this fatal illness that destroys the brain and kills children in childhood.  Please take a moment to read our story and make a wish for us today!

Putting Drug Development In Patients’ Hands

Jay M. Tenenbaum became a multimillionaire in the Internet boom of the late 1990s. But it wasn’t until he was diagnosed with a lethal cancer that he found his calling as an Internet entrepreneur.

Dr. Tenenbaum learned in 1998 that he had melanoma, the most serious kind of skin cancer. He underwent surgery and took an experimental vaccine for a year. Then, nearly five years ago, the cancer returned, having spread to his liver. "That’s when I started looking at my mortality seriously," says the 65-year-old from Portola Valley, Calif.

Frustrated with his treatment options, Dr. Tenenbaum began investigating other potential therapies. He found dozens of patient-advocacy organizations dedicated to melanoma that raised money and supported scientific research. They "all had good ideas," he says, "but no one had put the different pieces together in the right way that would let them make progress in finding a drug in the lifetime of a patient."

So he tapped his own Internet savvy — and his connections — to create a company aimed at helping patients develop new therapies faster and cheaper for less common diseases, like melanoma, that often don’t attract major pharmaceutical company research funding. He set up his new company, called CollabRx, with $2 million he had available and is trying to raise $3 million more from family, friends and private investors.

Thor Swift for The Wall Street Journal

Jay Tenenbaum started CollabRx to help patients hasten drug development.

Dr. Tenenbaum’s idea taps into the recent phenomenon of patient-supported research — a trend largely driven by people wealthy enough to help fund drug-discovery projects and who are affected by rare or overlooked diseases.

The Myelin Repair Foundation, founded by a patient with multiple sclerosis, set up a team of researchers to come up with promising drug leads. After spending $13 million over four years, the foundation will present its two best prospects to drug companies in coming months in the hopes of getting one of them to develop the drugs further. And the Cystic Fibrosis Foundation, started by a group of parents who had children with the disease, recently announced that a drug it is paying a biotech company to develop showed promising results in an ongoing trial. The foundation says its investment in the drug so far exceeds $75 million.

CollabRx aims to expand patient-funded research further by connecting individuals or small numbers of patients with the tools and services they need. Each CollabRx client is assigned a project manager, a specialist who works with patients to devise a research strategy, interpret the results and later steer any promising prospects toward development of possible treatments.

CollabRx calls such integrated projects virtual biotechs because they aim to replicate many of the steps typically taken as part of a pharmaceutical or biotech company’s search for a new drug. As the number of private labs available to do sophisticated research grows, many parts of the drug-development process can now be contracted separately. Researchers in various locations can share information and material by means of a Web-based network created by CollabRx software engineers.

Management Fees

CollabRx’s fees vary depending on the scope of a project. But Dr. Tenenbaum says he expects to charge most clients a management fee of 10% of a project’s budget and to receive a 20% share of any intellectual property that emerges. Drug screens, clinical trials, and the costs of other contracted services are paid for by the clients.

Dr. Tenenbaum says patients can get started on a project with as little as $50,000 to $100,000. Sums like that, for example, could fund the creation of a molecular profile of a tumor to try to predict what combination of already approved drugs might be effective. If results proved promising, more money could be raised to set up a full-blown virtual biotech — with a budget in the millions of dollars — that might test cocktails of therapies in animal models and try grouping patients into subtypes to better tailor treatments for them, among other projects.

Bonnie J. Addario, a former oil-company executive in San Francisco, is a lung-cancer survivor. When she first started thinking about how to make a difference, she figured, "I’ll run a gala and a golf tournament, raise money for research, and that will be it." Mrs. Addario, 60, raised $800,000 through a foundation she set up in 2006. She distributed the money to a number of researchers, and then realized, "there are a lot of wonderful people doing great work, but lung-cancer survival rates [of 15.5% after five years] haven’t changed for 40 years. Why is that?"

To find answers, Mrs. Addario and her husband, along with David M. Jablons, her surgeon from the University of California, San Francisco, put together a two-day conference last fall of lung-cancer researchers from major institutions around the world. She says the group identified a number of problems that hinder progress toward a cure. Among them: Researchers didn’t know what others were doing, tissue and blood specimens needed for experiments weren’t centrally located or shared, and the findings of experiments weren’t integrated to help assess what the key priorities should be.

Mrs. Addario started a new organization, the Addario Lung Cancer Medical Institute, and hired CollabRx to address some of these issues. The company is helping the institute build a virtual specimen bank where researchers participating in the project can share patient specimens and establish joint standards for collecting future specimens. Using the CollabRx Web-based network, the researchers can share research and ideas, and quickly reprioritize projects as new information comes up. Mrs. Addario says the institute expects to spend at least $5 million over the next year to set up the virtual biotech, fund researchers and establish the specimen bank.

It’s far too early to tell whether CollabRx’s approach will be more successful at finding new drugs cheaper or faster than the traditional methods of drug and biotech companies, a challenge acknowledged by scientists who target faster cures. "We’re not discovering drugs slowly just because of a faulty business model," says John Wilbanks, executive director of Science Commons, a nonprofit in Cambridge, Mass., that seeks to make research more effective by encouraging more open access to scientific data. "We don’t understand so many things about toxicity in the human body. It’s hard because it’s hard," says Mr. Wilbanks, who works with Dr. Tenenbaum on a separate project. On average, the pharmaceutical industry spends about $1 billion over 17 years to bring a new drug to market.

CollabRx’s approach in some respects also goes against the cultural grain of scientific research. In order for academic researchers to get ahead at universities, they must be first to publish breakthrough findings. This competitive culture deters scientists from sharing information, and could make it difficult for CollabRx to get researchers to work together.

The Internet culture that drives CollabRx encourages collaboration, says Christopher P. Austin, director of the Chemical Genomics Center of the National Institutes of Health. "And unlike the Internet, where people were maniacal about sharing stuff, biomedical scientists are exactly the opposite," he says. "You have to drag their data from their cold dead fingers. They do not share." Dr. Austin is testing CollabRx’s network with one of his lab’s projects that seeks to develop therapies for a rare disease.

Internet Background

Dr. Tenenbaum, who has a Ph.D. from Stanford University in electrical engineering and computer science, was deeply involved in the Internet boom of the 1990s. He started a number of Web companies that helped pioneer the use of e-commerce. His most lucrative foray was as chief scientist and a board member of Commerce One Inc., which developed technology enabling the computer systems of big businesses to interact more readily. Dr. Tenenbaum, who goes by the nickname Marty, left Commerce One in 2002 as the company was struggling amid the tech bust early this decade.

Dr. Tenenbaum is engaged in another project with several partners that also borrows from the Internet culture — creating a nonprofit marketplace for data, materials, resources and services needed for studying and treating disease, to be called Health Commons. The partners, which also include Science Commons, the Public Library of Science, and CommerceNet, plan to set up a site where people and companies in the life sciences can go to buy and sell goods and services.

Dr. Tenenbaum says that if Health Commons is successful, it could help CollabRx locate resources for its virtual biotechs. Even individual patients, should they want to pursue research and drug development on their own, could find information and services at the site, he says. (For a summary of the Health Commons project, go to http://sciencecommons.org/projects/healthcommons/.)

Chris and Hugh Hempel of Reno, Nev., last fall met with Dr. Tenenbaum a few weeks after learning that their 4-year-old twin daughters, Addi and Cassi, had been diagnosed with Niemann-Pick Type C, a genetic neurodegenerative disorder that usually is fatal by the age of 20. The Hempels joined with a group of parents to fund SOAR-NPC, a virtual biotech CollabRx set up.

The group decided that the fastest way to help the children would be to focus on a combination therapy of already approved drugs and other compounds that could prevent or significantly delay the onset and progression of NPC. Mrs. Hempel, who runs a public-relations firm, says she and her husband recently raised $500,000 at a gala event in Reno that will help fund the virtual biotech, whose total budget is $1.3 million for the first year. The project currently is testing a number of drug candidates at an NIH-run facility. Later this year, the first human observational study will start.

Melanoma Study

CollabRx also is helping to coordinate a melanoma study at the John Wayne Cancer Institute in Santa Monica, Calif., which received a grant from the Melanoma Research Alliance. The project, with a budget of $1 million over three years, is using genomic technologies to test melanoma tumors collected by the institute over the past two decades to find drugs that might work on clusters of individuals whose tumors exhibit certain similarities.

The melanoma alliance, set up with funding from Apollo Advisors founding partner Leon D. Black and his wife, Debra, and FasterCures, an organization created by financier Michael Milken, are also discussing a larger project with CollabRx to set up a melanoma virtual biotech. That project would test various melanoma cell lines against existing drugs and drug combinations with the aim of advancing promising prospects to clinical trials. Gregory C. Simon, president of FasterCures, says he sees the melanoma virtual biotech as a model that could be useful to other advocacy groups with which FasterCures works.

It is a project that Dr. Tenenbaum is following closely, not only in his role at CollabRx but also as someone who might benefit from any potential therapies that emerge. Mr. Tenebaum has had four surgeries to remove suspicious nodules since his cancer returned, and he gets scans every few months. Right now, there are no signs of the cancer. "But with melanoma," he says, "that can change overnight."

He plans to contribute funding for the melanoma virtual biotech out of his own pocket. Eventually, Dr. Tenenbaum says he plans to pay to have his own tumor cells tested with whatever drug combinations the virtual biotech finds are promising.

"The fact that there is no therapy right now that works in general for melanoma patients doesn’t mean that there is no therapy that works on selected patients," Dr. Tenenbaum says. "That is where CollabRx comes in. I want to have that information in hand, just in case I ever need it."

Write to Amy Dockser Marcus at amy.marcus@wsj.com

Coriell Institute: The Value of BioBanks To Further Medical Research

I had never heard of the term “BioBank” or biorepository until my 4 year old identical twins, Addi and Cassi, were diagnosed with a fatal disease called Niemann Pick Type C, otherwise known as the “Childhood Alzheimer’s.”

Since receiving this nightmare diagnosis, I have become familiar with many organizations I had no idea existed, including an nonprofit research organization called the Coriell Institute based in Camden, New Jersey.  Coriell is a leading biobank that is funded by the NIH and they are dedicated to understanding human genetic diseases.

Coriell collects human biospecimens from people with all types of diseases ranging from Epilepsy to Parkinson’s to Rett Syndrome.   As scientists study the connection points between genes and diseases, they are finding many diseases have complex patterns of inheritance.

I have submitted Addi and Cassi’s “biospecimens” — things like tissue and blood samples — to Coriell which are now being analyzed and stored in tanks.   When researchers are interested in studying Niemann Pick Type C diesase, they order biospecimens from Coriell so they can try and understand the molecular characteristics and clinical progression of the disease.    Once Addi and Cassi’s NPC mutation is fully analyzed, it is given an anonymous number and will be represented by a red dot on Chromosome 18 and can be ordered from Coriell.

Addi and Cassi’s DNA will essentially live on forever in these tanks and my hope is someday their DNA will help solve something researchers have not thought of yet.  Maybe their identical twinship will prove even more important to understanding disease than the genetic disease they were born with?  Who knows, but it’s interesting to think of the possibilities.

Cures for human disease can only happen faster with biobanks providing researchers with critical genetic material.  I am eternally grateful to the NPC families who have already contributed to Coriell’s biobank.   Most of these NPC children have passed away but they live on through current research work and they are now trying to help save Addi and Cassi’s lives.

I hope people who have the opportunity to provide samples to biobanks like Coriell will do so in the future and without fear.  The good news is that the newly enacted genetic discrimination law (GINA) bars health insurers from using genetic information to make coverage decisions.   Many Americans have been reluctant to take advantage of breakthroughs in genetic testing for fear of “genetic discrimination” and that the results could deny them jobs or health insurance.

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