Ten Tips To Start Your Own Virtual BioTech To Find Treatments For Your Rare Disease

Ever since we went public with Addi and Cassi’s cyclodextrin treatments, I have received countless emails asking me a number of questions.  How did I find the sugar compound "cyclodextrin?"  How did I manage to get the Food and Drug Administration to approve infusions of this new compound into Addi and Cassi?  As a parent advocate, would I share any knowledge I might have with others facing Rare Diseases?

Before I answer specific questions about the twins’ cyclodextrin treatments, I think it’s important to share 10 Important Lessons I have learned about the drug development process and why I have helped start a Virtual BioTech after Addi and Cassi were diagnosed with Niemann Pick Type C a year and a half ago.

Lesson 1:  Understand the drug development landscape: Most pharmaceutical companies will not be of help to you if you are facing a Rare Disease.  Here are the stats.  Approximately 7000 different Rare Diseases exist.  According to the National Institutes of Health, pharmaceutical companies have only developed treatments for 200 of the 7000 Rare Diseases!  Thousands of Rare Diseases are not being invested in by pharmaceutical companies because of small patient populations and lack of financial incentives to Pharmaceutical and Biotech companies.  This is why the NIH and NCGC have started the Therapeutics for Rare and Neglected Diseases program (TRND).  The government has to step in where Pharma and Biotech companies will not.

Lesson 2: What is in the pipeline?:  It takes 10+ years to bring a new drug to market and costs 800+ million – if a drug is not already in Phase 2 or 3 for your specific Rare Disease, it’s unlikely that there will be options for you other that what already exists.  In most cases, there will be nothing for you or your child since no drug company is going to spend $800+ million dollars on your Rare Disease.  How do you find treatments and therapies?

Lesson 3:  Create a Virtual BioTech.:  Anyone can do this.  In the case of Niemann Pick Type C disease, our family has teamed up with three other families (still looking for more to join us!) and we have pooled our resources together to find near term therapies for our children.  We named our Virtual BioTech "SOAR-NPC" or Support Of Accelerated Research for Niemann Pick Type C.  Last year, the four families raised over $1Million dollars collectively and we are pouring our money into specific NPC research projects.

Lesson 4:  Fund collaborative research teams: Currently our Virtual Biotech has 4 key NPC researchers with different skill sets working together and sharing their data.  These researchers have agreements with their respective institutions so that they can work together.   They work in different parts of the world but talk bi-monthly (before they would meet once a year at a conference) about project plans, deliverables and dividing up the research work.  This type of cooperation also reduces duplication of research efforts in laboratories.

Lesson 5:  It’s a Business. Hold Weekly Meetings: The SOAR NPC Parents group meets weekly by conference call and at least quarterly in person.   We have an agenda that we review that covers topics ranging from fundraising  to research.   Notes are taken.  We divide up tasks that need to be accomplished based on the skill sets of the team.

Lesson 6:  Project Managers: We have hired a doctor with a neuroscience background to help us understand the medical literature and he interfaces with our core set of researchers to stay abreast of all current research.   This doctor also helped us design and write the FDA protocol on cyclodextrin and is a shared resource for the families.  Parents also need to act as Project Managers depending on how much time they can devote to their cause.

Lesson 7:   A Focus on Therapies: Off Label Drugs and Supplements: Our researchers are tasked with finding near term treatments for Niemann Pick Type C affected children.  We are not focused on finding new drugs to be taken through the  pharmaceutical or biotech development process because drugs will not reach our children in time (remember it costs $800+ million to bring a new drug to market).   Rather our focus is on the library of already approved 3,000+ FDA drugs that could be used “off label” and re-purposed for our needs.  In addition, we are testing over the counter supplements that could be used to help our children today.  We have created a master drug and supplement intervention list (“our pipeline”) and have prioritized targets for testing.  Next, we test these targets in the Niemann Pick Type C mouse model or in cell based assays.

Lesson 8:  Get Involved: It’s not always possible to rely on existing non-profit Foundations to meet your personal objectives.  Understand what your Foundations are doing and where they are spending their research dollars.  For example, look at the Cystic Fibrosis Foundation which has a terrific model — they publish their drug and supplement pipeline list.  Does the Foundation supporting your Rare Disease have a drug development pipeline?  If so, ask to see it.  Some Foundations may spend their dollars on patient support while others have a focus on basic research that will not produce near term therapies for your Rare Disease.

Lesson 9:  Consider treatment options from other diseases that have more research funding: In the case of NPC, there are lots of common symptoms and pathways shared with Alzheimer’s as well as Ataxias.   A lot of research has been done in other fields that could be translated to your specific rare disease.  For example, Curcumin, a spice from Turmeric, is a good example of a non toxic supplement therapy that has shown to be beneficial in many neurological diseases.   But always do your research as there are differences between over the counter supplements. In the case of Curcumin, there is a therapeutic version developed by UCLA Curcumin experts and made by Verdure Sciences and plain over the counter that is not highly bioavaiable in your body.

Lesson 10:  Don’t take “No” for an answer: Work with people who believe in the power of “Yes.”