FDA Reviewing Investigational New Drug Application For 5 Year Old Twins Stricken With Fatal Cholesterol Disorder

I have always believed there would be a drug sitting on shelf somewhere that could help save the lives of our 5 year old twin daughters, Addi and Cassi. What I never imagined was a sugar compound used in the food processing industry to extract cholesterol and make cholesterol free products like salad dressing could turn out to be a potentially life saving/extending treatment for our girls.

The magic sugar molecule I am referring to is called cyclodextrin. Besides being used in the food processing industry, cyclodextrin is used by Procter & Gamble in their Febreze air freshener spray to enhance its smell.  You can also find it in chewing gum and sports drinks and many other products.  Millions of people eat, drink and inhale cyclodextrins daily as they are considered safe and non-toxic substances.

In the medical field, cyclodextrins have been known for years to be able to remove cholesterol from cultured cells. So it should come as no surprise to anyone that Niemann Pick Type C diseased mice are showing improvements when given cyclodextrin treatment. For those of you unfamiliar with Niemann Pick Type C, it is a rare and fatal cellular cholesterol metabolism disease that primarily strikes children and is often referred to as the "Childhood Alzheimer’s."  Niemann Pick Type C disease is destroying our young twins’ brains, causing severe dementia and enlarging their spleens and livers.

When researchers studying this disease give Niemann Pick Type C mice regular infusions of cyclodextrin (a kind called hydroxy propel beta cyclodexrin, or HPBCD), the mice with NPC disease live significantly longer. Although researchers do not fully understand what cyclodextrin is doing in the mouse model or if it crosses the blood brain barrier, they believe cyclodextrin helps unclog cholesterol in cells, filters it through the kidneys and enables the trapped cholesterol to exit the mouse through its urine.

Over the past year, we have been researching human data on cyclodextrin in an effort to figure out a way to get cyclodextrin into Addi and Cassi’s bloodstream. We initially tried feeding Addi and Cassi cyclodextrin powder (by turning it into a liquid form that tastes like Sweet & Low) but it does not absorb well into the bloodstream through the stomach.

One leading anti-aging researcher at CHORI came up with the novel idea of a cyclodextrin nasal spray. Maybe spraying cyclodextrin into Addi and Cassi’s nasal cavity would allow the compound to enter their bloodstreams? We considered this option, however, based on current mice research data, we believe the best method to get therapeutic cyclodextrin into our girls is through intravenous infusions (IV).

In mid-December, our medical team submitted an application to the FDA asking for permission under “compassionate use” to treat Addi and Cassi with cycolodextrin IV infusions. Compassionate use is a term used in the United States when dying individuals have no other treatment options available to them, as is the case with our identical twins.

We know we are asking the FDA to allow us to try something that has never been attempted before — to place a permanent medi-port into Addi and Cassi and give them weekly infusions of sterile cyclodextrin directly into their bloodstreams.  However, we’re not asking for a  “drug” treatment like chemotherapy – this sugar compound has an excellent safety profile and is non-toxic.  We believe it will help our twins live longer lives and buy us the time to find other therapy targets.

Just before Christmas, the FDA informed us of a 30 day hold on our application in order to review our case further. They appear concerned about dosage levels even though we have done extensive research on safe dosages given to both animals and humans over many years. We are urging the FDA to approve our request as soon as possible and allow us to treat our children.  Just like a diabetic individual needs insulin to survive, children with Niemann Pick Type C may need cyclodextrin to help live until additional treatments can be found.  It’s as simple as sugar FDA!

Indian Boy To Recieve Mesenchymal Intracranial Stem Cell Transplant

There is a brave little boy in India who is going to make history this week. His name is Aaditya (ah-dah-tee-ah) and right now this little boy is at BGS Global Hospital in Bangalore, India, being prepped for one of the first intracranial stem cell transplants ever conducted on children. The procedure was approved by the Indian government a few weeks ago and is being conducted by some of the top neurosurgeons in India.

For those of you who unfamiliar with stem cells transplants (which wouldn’t be surprising as this kind of treatment is not even available in the United States), intracranially means that the stem cell Aaditya will receive will be put directly through his skull, into his brain and past the blood brain barrier.  Most stem cells injections people get in China or Mexico go through the neck/vertebra or through IV infusions.

Aaditya is afflicted with a rare and fatal childhood disease called Niemann-Pick Type C (NPC). Frequently referred to as "Childhood Alzheimer’s," Niemann Pick Type C is a genetic lipid (cholesterol) storage disease that causes progressive neurodegeneration of the brain just like Alzheimers, Parkinson’s or ALS does to adults.  Only 500 children worldwide have this horrible condition, including my identical twins daughters, Addi and Cassi. Without this procedure, Aaditya is likely to die as there is no approved treatment for NPC.

In 2005, a similar procedure made international headlines when the FDA approved six children with Batten disease to receive intracranial neural stem cells in the United States. The results from this procedure still has not been released by StemCells Inc. of Palo Alto, California.   Why, I don’t know, but my guess is that these neural derived stem cells were not a huge success.

Unlike the children with Batten disease, Aaditya is going to receive a different type of stem cell –  mesenchymal stem cells derived from human bone marrow (not embryos). The good news is that all stem cells are not alike so there is a chance these stem cells could transdifferentiate and turn into brain neurons.  While this procedure is considered a long shot and radical, there is a glimmer of hope that mesenchymal stem cells could restore function to Aaditya.

Currently, most of the hair on Aaditya’s head has been removed as he prepares for surgery. Two three inch incisions will be made on the top of Aaditya’s skull and he will receive a stereotactic implantation of stem cells into eight bilateral symmetric points in his brain.

His amazing mother Tasneem and aunt Duriya say they are at peace and that, "He who has brought Aaditya so low will take him so high." This family’s faith is inspiring to say the least and they are asking the world to send them prayers for a successful surgery.

Aaditya’s surgery is scheduled for Thursday, December 18th,2008, from 9:30pm-12:30pm (if his current fever stops).  You can leave a wish here for Aaditya or you can reach the family at Hope For Aaditya.

 

Billy Martin Hires New Major League Baseball Bat Boy

Kevin Eadie To Drag Bats For Joe DiMaggio, Ted Williams, Mickey Mantle & Babe Ruth
All-American bat boy Kevin Eadie, 15, was called up to the “Major Leagues” last week and has been selected by Billy Martin to drag bats for Joe DiMaggio, Babe Ruth and other former Major League baseball stars.  The young dugout batboy star formerly with the Peninsula Pilots of Hampton, Virginia, has made it to the big leagues, his ultimate dream.

If you love baseball, we hope that you will spend 4 minutes today watching our tribute video to this boy who loved baseball and send it along to others to help us raise awareness of Niemann Pick Type C, a fatal brain disorder often referred to as the “Childhood Alzheimer’s.”   

A Letter From A Muslim Mom to a Catholic Mom About Our Dying Children

Dear Chris,

I am not a very interesting person…and as of now only a brokenhearted one. I had a very nice childhood, a loving family and fun loving friends, got what I wanted, studied what I wanted or where I wanted. I was taught never to do anything bad with others, only to help the less privileged ones.  I was a top student, had many distinctions during my academic career and somehow or the other became the first on camera female reporter of the state run news television in Pakistan.

I was the youngest one in the media circles to have worked with the decision makers at the highest corridors of power and traveled with my country’s President and the head of the Government, the PM to their visits abroad.  During my international traveling, I met with the world leaders, was praised for my work for being the one who would not compromise on any news story for political expediency and yet was surviving well.  Whenever I used to go out with my family – people would recognize me and ask for my autograph.

But that was not what was the best thing that happened to me…it was Hisan….. who although lost his father very early in his life was a wonderful and delightful child.  Being a single mother, I thought I would give Hisan the best of everything so that no one would think that he did not get what he desired since he had no father.  I wanted so much to give Hisan and education abroad as I had to miss my scholarship when I got married.  I guess it’s the same unfinished agenda on my life that I wanted so much for have Hisan have.  I believe every parent looks towards his or her child in terms of their unfulfilled aspirations.  I had many offers in my hand but I regretted to all as I wanted Hisan to be near to me.  I left the most coveted beat and resigned from my media position when I thought I was missing Hisan on the way.  People thought that I was crazy for doing that…..a professional suicide. As for me, I never once regretted my decision.

You see it is not me who is important in this picture..it is Hisan…the ‘miracle boy’ who had left the most experienced and seasoned doctors in awe owing to his resilience and bravery to fight back this pathetic Niemann Pick Type C disease. Once in a code blue situation, Hisan came back after 45 minutes of CPR, all soaked in a pool of his own blood…and went home to spend some very memorable time with his family.

Hisan was the favorite of all…..be it doctors, nurses, therapists…he would have the pricks done on him without crying…would keep quiet even in extreme pain and his eyes would always exude compassion…tolerance and a certain peacefulness that would put me to shame. When everyone had lost hope Hisan would fight back and lead the doctors to think otherwise. His fighting spirit would prove everyone wrong.

I would become the proud Mom of a very special child.  He would never let me down..never..and it became an altogether different story that my heart would cut in shreds upon every needle that was poked in him.  Never mind missing Stanford.  One after another he lost everything except his beautiful eyes that would tell everything to his Mom and his beautiful spirit.  He died so peacefully.  So becoming of him.  I cry for him each time and I mourn him.  My world is not only blank, it is meaningless as I have lost the will to live anymore.  The only thing matters to me is the long drawn wait that I have to go through to meet him some time when he is happy and without the monster.   You ask for my religion?  For me it is probably not a bad bargain after all to give him back soon and then to have him forever…that’s my belief as a human being and as a Muslim too.
Love to your Princesses!
Nabiha, Pakistan

Calling Jerry Lewis – Scientists Report Understanding Niemann Pick Type C Could Lead To Treatments For Duchenne Muscular Dystrophy

There are new reasons for hope not only for families of Niemann Pick Type C kids but for families with children suffering from Duchenne muscular dystrophy, a fatal recessive X-linked form of muscular dystrophy that strikes 1 in 3500 boys and leads to paralysis and ultimately death.

According to a research paper released from the University of Washington, understanding the mechanism of Niemann Pick Type C (NPC), a fatal progressive neurodegenerative disease that is trying to take the lives of Addi & Cassi could help researchers find new treatments for Duchenne Muscular Dystrophy (DMD) and possibly muscular dystrophy in general.

In the studies conducted by the University of Washington, “transgenic expression of Neimann Pick Type C 1 (NPC1) in skeletal muscle ameliorates muscular dystrophy in the Dtna-/- mouse (which has a relatively mild dystrophic phenotype) and in the mdx mouse, a model for DMD. These results identify a new compensatory gene for muscular dystrophy and reveal a potential new therapeutic target for DMD.”

In addition, the researchers report that “molecular abnormalities in NPC1-null cells suggest possible links to known causes of muscle degeneration. One particularly intriguing connection involves the caveolins. Caveolin-3, the muscle-specific form, binds directly to the dystrophin complex members, β-dystroglycan at the sarcolemma and is required for the correct targeting of the dystrophin complex to cholesterol-sphingolipid rafts/caveolae. A link between caveolin-3 regulation and the muscular dystrophies is well established. Muscles from Duchenne muscular dystrophy patients and mdx mouse muscles have elevated caveolin-3 levels.”

The Muscular Dystrophy Association (MDA) through the help of Jerry Lewis has raise approximately $2 billion for neuromuscular patient care and research since its inception yet a cure has not been found to date.  This paper suggests that new therapies could be found for muscular dystrophy by looking at the NPC1 gene, a gene that causes a rare and fatal childhood disease that strikes only 500 children worldwide.   Does anyone have Jerry Lewis’ number?

Posted by Chris (MOM – Mom On a Mission)

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