Moms Receive EU Orphan Drug Designation From European Medicines Agency For Novel Cholesterol Drug Called Cyclodextrin
Last year, after Dr. Caroline Hastings and I received the U.S. Food and Drug Administration orphan drug designation for Hydroxy-propyl-beta-cyclodextrin (HPBCD) for the treatment of Niemann Pick Type C disease, I was contacted by Sue French.
Sue lives in the United Kingdom and her son William is also afflicted with the rare and fatal genetic cholesterol disease called Niemann Pick Type C disease like Addi and Cassi. The French family run the Niemann-Pick Research Foundation (NPRF) in the UK.
Sue and I discussed her interest in seeking compassionate use of Hydroxy-propyl-beta-cyclodextrin in the UK to treat patients like her son. She was keen to learn more about how we are treating Addi and Cassi with cyclodextrin in the U.S.
The problem facing Sue and other families throughout the European Union (EU) is that many doctors have never heard of cyclodextrin. They do not understand that some cyclodextrins (like HPBCD) have been discovered to be active pharmaceutical ingredients (APIs) and have massive effects when they interact with cholesterol in the human body.
While U.S. citizens look to the FDA for drug designations and approvals, in the European Union a different authority governs drugs. It’s called the European Medicines Agency or EMA.
Sue and I decided that in order to further legitimize cyclodextrin as a potentially lifesaving therapy throughout the EU for Niemann Pick Type C patients, we needed to work together to pursue an orphan drug designation from the EMA.
I discussed the concept with Dr. Hastings who was willing to support our efforts to move the EMA application forward in order to help open avenues of treatments for patients throughout the EU. We also talked about how we could potentially utilize the combined FDA and EMA Single Orphan Drug Designation Annual Report process that was announced by both agencies in February 2010.
Sue and I began the process of re-purposing the FDA filing to create the EMA application. Sue took the lead on establishing contact with the Orphan Drug Group at the EMA and started the first draft of the EMA application. We then had the application reviewed by Dr. Hastings and Dr. Ron Browne (a consultant we hired to help us with FDA protocol filings).
After submitting our initial draft, we held a conference call with the EMA where I had to give a presentation on cyclodextrin. Dr. Jordi Llinares, head of Orphan Medicines at the European Medicines Agency (EMA) was on the call and provided valuable feedback on how to make the submission even stronger.
After the call, Sue and I spent the next few months going back and forth on email refining the draft (in between caring for our kids!). We finally reached a point where we had all the data necessary data for the EMA orphan drug submission. After holding one final conference call with the EMA staff, Sue raced off to meet the deadline and submit all the documents and medical rational for cyclodextrin as a treatment for Niemann Pick Type C disease. Since we are not a pharmaceutical company, Sue acted as the “Sponsor” of the application because an EU citizen or company needs to officially apply.
In June 2011, we received a positive opinion from the Committee for Orphan Medicinal Products (COMP) for Hydroxy-propyl-beta-cyclodextrin for the treatment of Niemann Pick Type C. Seven other pharmaceutical companies seeking orphan drug designations for different products (including Novartis and Pfizer) were also listed along with us — not too shabby!
In August 2011, Dr. Hastings was the first to receive word from the EMA that our application for cyclodextrin was approved. I was so happy, I cried.
- To give you an idea of how amazing this is, in 2010 a total of 174 orphan applications were submitted to the EMA and 128 received the designation. The 128 applications that received the designation are potential drugs to treat over 7,000 different rare diseases that affect over 30 million people in the EU. We have made it into an elite group with many leading pharma companies creating promising new therapies for rare diseases!
Sue and I are now back to working from our homes to move cyclodextrin clinical trials forward to prove it works in people. I work on this drug development effort right from the middle of my kitchen — no better place than the heart of your home!
Despite being on different continents, we are pushing forward cyclodextrin treatments for our children, and other NPC children like them, to give them a real chance at life.