The Road to Building a New Orphan Drug – Am I Mad?

On February 25-26, 2010, I will be attending the inaugural FDA Build-an-Orphan-Drug-Workshop hosted by the Center for Rare Disease Therapies at Keck Graduate Institute (KGI) in Claremont, Calif.  FDA agency experts will be on hand to provide guidance on applying for orphan drug designation.

I will be attending the workshop with Dr. Ron Browne, hired to help us write the orphan drug application for hydroxy propel beta cyclodextrin (HPBCD).  Children’s Hospital Oakland Research Institute (CHORI) is sponsoring our orphan application as we do not have a pharmaceutical or biotechnology sponsor (a rare event in itself!). Our application is already drafted and we are attending the workshop to get final input and advice. Applications will be submitted at the close of the workshop. Perfect timing as this is the Friday before World Rare Disease Day 2010 (Feb. 28).

According to recent FDA statistics, over the past 25 years there have been 2,100 orphan designated drugs to treat rare diseases (of which 344 have become approved products). That works out to about 16.4%, which does not seem like a high percentage considering that rare conditions affect between 25-30 million Americans.  As of Feb. 8, 2010, a searchable database located on the FDA website has the number at 347/2131 which takes the percentage slightly lower.

For the most part, academics, pharmaceutical firms and biotechnology companies will be at KGI trying to find ways to move their drugs forward. Amidst all of these wonderful scientists, I (a “Mom” without a science degree) will presenting our case for a seven ring sugar molecule called cyclodextrin. Cyclodextrin has never been considered a “drug” yet this compound could save the lives of our six year old identical twins who suffer from perhaps the worst cholesterol disease on the planet.  I wonder what they are going to print on my badge?  Mom? SugarNut? More than likely “Lunatic” because I must be insane to embark on trying to get into the 16% club.

Orphan drugs are either drug or biologic products used to treat rare conditions affecting fewer than 200,000 people in the United States. Since there are only 250 children in the United States with Niemann Pick Type C disease, I think we will qualify! I am really not worried about qualifying because the science on cyclodextrin backs up our application. I am worried about how to move development forward on this compound.

I have a number of key goals:

Submit an exceptionally strong application for cyclodextrin

Determine how cyclodexrin can make it into the 16 percent club, despite the fact we only have 250 patients in US/500 Worldwide

Find out if the government/FDA can help us move the development of cyclodextrin forward — what kind of grants can we get for this sugar compound? Maybe some nice biotech executive with a cholesterol issue or a parent with Alzheimer’s might invest in us?

Determine what kind of safety and efficacy studies are reasonable for an ultra rare disease like Niemann Pick Type C.  We don’t have $800 million and 12 years to invest in moving a therapy forward when there are only a few hundred patients (many without insurance to pay for expensive drugs)

Understand more about animal studies that can help bolster our chances to make it into the club

Clarify how to move this compound forward while we are under “compassionate use” INDs with another FDA division.  How do we maximize getting data from Addi and Cassi’s treatment since they are already receiving IV cyclodextrin infusions 2x per week

What kind of new incentives can the government put in place for individuals like us?

By the time the two day workshop is finished, it will cost $4,000 dollars for Dr. Browne and I to attend (air, hotel, conference fee). We could really use $4,000 for an animal dosing safety study.  Every second and every penny counts when you’re trying to save your kids from a fatal childhood illness on a shoestring budget compared to the hundreds of millions of dollars of investment it takes to move a drug forward.

I hope the meeting is useful and we actually leave having filed an orphan drug application for cyclodextrin. I also hope that the FDA can learn something from a parent like me.  I may be crazy but what if I am right?