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!