Sunday, November 19, 2017

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

December 28, 2008 by  
Filed under Cyclodextrin

US FDA Building

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!

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Indian Boy To Recieve Mesenchymal Intracranial Stem Cell Transplant

December 17, 2008 by  
Filed under NPC Family Stories

Aaditya - India

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.

 

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