May 17, 2010
Drum roll, please! Dr. Caroline Hastings at Children’s Hospital Oakland and Research Center received a call on Friday afternoon from the U.S. Food and Drug Administration regarding the orphan drug submission we made at the end of February.

While we have not received the official letter by mail (probably next week), it appears our Orphan Drug application for hydroxy propel beta cyclodextrin (HPBCD Trappsol® brand from CTD Holdings, Inc.) for the treatment of Niemann Pick Type C disease has been approved! Who would ever in a million years think that a sugar compound could actually be a very powerful pharmacologic agent against cholesterol?

For those of you reading my blog for the first time, Niemann Pick Type C disease is a rare and fatal genetic cholesterol disease that is often referred to as as the ‘childhood Alzheimer’s’ because it causes severe dementia in children. The Niemann Pick Type C genes control human cholesterol metabolism at the cellular level and people born with double mutations on this critical gene are afflicted with a horrible progressive neurological condition.

Orphan drug designation is granted by the FDA Office of Orphan Products Development to novel drugs or biologics that treat a rare disease or condition affecting fewer than 200,000 patients in the U.S.

Receiving a formal orphan drug designation from the FDA is a major milestone. To put this designation in perspective, in 2009, approximately 250 requests for orphan drug designation were filed with the FDA, and 160 received it. The 160 approvals were given for all rare diseases combined (7,000 different rare disease that affect approximately 30 million Americans).

Over the past 25 years, it is my understanding that very few applications have been filed for ultra rare diseases like Niemann Pick Type C that impact less than 1000 people worldwide. Certainly very few applications have been filed and received approval by non biotech or pharma companies.

This is only the second time in history that a drug/compound for treating Niemann Pick Type C disease has been given an Orphan drug designation by the FDA. The first one was Zavesca made by Actelion Corporation (it still only has a designation and no approval in the United States).

Moving forward, our orphan drug designation makes us eligible to receive special tax credits that will apply to qualified human clinical trial and research expenses and possibly grant funding for Phase I and II clinical trials. We are currently looking into these benefits now and how we can maximize them.

One of our goals now is to take our application and re-purpose it and submit it in other countries (specifically to the the EMA). When we file our annual report with the FDA in the United States, I have been told we can automatically submit the same annual report to the EMA with all of Addi and Cassi’s human clinical data that we have been gathering for over a year. By submitting this human clinical data to different agencies worldwide, we could speed up the ability for Niemann Pick Type C families around the world to be able to conduct cyclodextrin treatments on their children in their own countries.

While we have managed to cross a very large hurdle, the next hurdle awaits us in the coming weeks. We are pursuing another major filing with the FDA requesting the ability to deliver cyclodextrin intratehcally to Addi and Cassi. This is the filing that I believe will give us the real opportunity to save Addi and Cassi’s lives.