Parents To Seek FDA Orphan Drug Designation For Cyclodextrin To Treat Rare and Fatal Cholesterol Disease

On Tuesday morning at 11am, Addi and Cassi are going to undergo volumetric CT scans of their livers and spleens.  The tests are being conducted by doctors to determine if the cyclodextrin IV infusion treatment the twins are receiving under compassionate use INDs approved by the FDA are reducing the size of their enlarged cholesterol filled organs.

UT Southwestern scientists have shown that Niemann Pick Type C mice organs can be restored to normal size through cyclodextrin treatment.  We are soon to find out whether the same is true for children who are afflicted with this rare and fatal cholesterol disease.

In all previous tests conducted on Addi and Cassi’s swollen abdomens, their spleens have measured about 12 centimeters. We are very excited and hopeful that they have reduced in size since starting the cyclodextrin infusions about 5 months ago.

We also received preliminary results this week that cholesterol is being excreted in Addi and Cassi’s urine and their lysosomes are getting smaller!  All positive signs and so far no negative side effects from the cyclodextrin treatment.  We are now infusing 2800 mg/kg over 8 hours 2x per week — we are getting into some significant doses.

Currently, my husband and I are working with a small core team of doctors and NPC parents to apply for Orphan Drug Designation for cyclodextrin (HPBCD). We intend to file our documents with the FDA in February 2010 and we are trying to get a pharmaceutical sponsor to help us.  If we are unable to secure a sponsor, we will sponsor the Orphan Drug Designation filing ourselves as private citizens.

Since no pharmaceutical company makes a sterile cyclodextrin infusion formulation, Adam our hospital pharmacist has to make Addi and Cassi’s formulation from scratch.  For the past few months, I have been working with a cyclodextrin manufacturer in Hungary and a US based cyclodextrin supplier who can help me make an endotoxin controlled cyclodextrin formulation that can be distributed to patients worldwide.  I hope to have a sterile compound available in 2010 for patients if all goes well.

Just for fun, I mocked up a little bottle (using Genzyme’s Cerezyme drug bottle) with a label.  We might be able to put our cyclodextrin into a plastic bag — essentially it would look like a bag of saline only it would have cyclodextrin in it.

Dysfunctional cholesterol metabolism has been implicated in the etiology of many diseases from  Alzheimer’s to Coronary Artery Disease.  It’s amazing to think that a non toxic food additive that is also the main ingredient in Febreze fabric freshener could be the next miracle drug and might be able to save my girls lives or give them more time with us.