FDA…20 Diseases Being Chosen for PDUFA-V Meetings

by Dean Suhr, Parent Advocate, President MLD Foundation

Last Thursday, October 25th, I attended the FDA’s Patient-Focused Drug Development public meeting in Washington, DC. This meeting was required by the recently passed FDASIA/PDUFA-V legislation (see Abbreviation Decoder at end of post) and requires the FDA to hold 20 disease-specific meetings over the next 5 years to discuss topics such as:

“the impact of the disease on patients, the spectrum of severity for those who have the disease, the measures of benefit that matter most to patients, and the adequacy of the existing treatment options for patients.”

There were about 150 people in attendance and just over two dozen of us gave public testimony. The FDA is trying to get a better perspective on the needs, desires, and concerns of the patients by holding these 20 meetings.  Since we are directly impacted by the diseases we are best postured to tell them what’s most important to us.

Get involved … your letter to the FDA (see sample) is needed by the end of the day November 1st! 

One common theme of the testimony was that the patients for each disease have a different risk tolerance for therapy.  Those with more slowly progressing and less severe diseases, or those diseases with existing approved therapies want new therapies studied in more detail while those of us with no therapy, faster progressions, or more severe disease symptoms are willing to take higher risks to accelerate the process to see if a proposed therapy will be effective.

For example, with late infantile MLD, being a clinical trial participant as part of the small patient sample in a typical two or three year long trial, with the hope that there might be a positive outcome, is literally the difference between life or death if the outcome is positive.

With over 7,000 rare diseases and hundreds if not thousands of other more chronic diseases there is no way that 20 meetings is enough to address every specific situation.  Some of those giving testimony, myself included, recognized this and we expressed the idea of looking at the disease by the body system that is most affected to try to find common threads in therapy development, study, and approval.

Rare disease affects 1 in 10 of us across over 7,000 diseases, yet only two of those giving testimony, myself included, focused on the unique issues of rare diseases … no biomarkers, limited natural history, small patient populations to study, often very serious symptoms and fast progressions,  a disproportionate effect on children, most rare disease do not have any existing therapy, most rare diseases are ultra-rare with only a few hundred or thousand patients globally, etc. We feel that these sort of issues make studying and developing therapies/drugs for rare diseases especially difficult and unique.

With 35 million Americans affected by rare disease we need the special focus on the issues these 20 meetings will bring to the surface.



For those of us with MLD, a related neuro-degenerative leukodystrophy or lysosomal disease, or any rare disease for that matter … this is our chance to take action to be well represented in the 20 meetings. The FDA only had a few hundred inputs as of laste last week.  Your letter will be read and is important. 

The FDA is requesting public input through the end of the day November 1st. I’ve given oral testimony directly to the FDA and am following up with written testimony. I hope you will take a moment to write a letter too – use the text below to get you started!

It’s really easy:

  1. Create a Word or Pages document and paste in the suggested text or
    * Feel free to edit or add to the the text as you see fit.
    * I suggest you add a first paragraph with your personal connection to your specific disease, for example, mine will start … Two of my three daughters, one of whom is already deceased and the other is terminal with metachromatic leukodystrophy, an ultra-rare neuro-metabolic lysosomal storage disease.
  2. Please go to this online link to submit your comments: http://1.usa.gov/SaKQ4W
    * Fill in the blanks in Section 1 on the left side of the form
    * Skip to the third section.  Upload the document you just created.
    * click Submit and you are done.

If you have any problems submitting your comments please let me know and I will try to help.


Suggested Text

Here’s where our bias comes out … If you are a lysosomal disease advocate we suggest you include this text as the body of your testimony prefaced by your own comments (thank you to Jill Wood of Jonah’s Just Begun for basis of this excellent text).  But if you are not a lysosomal disease advocateplease use the rare disease template to make sure that rare disease issues are represented in several of the 20 meetings:

Lysosomal Disease with Neurological Manifestation 

click here to download a Word .doc file of this text


Rare Diseases Letter

click here to download a Word .doc file of this text


Abbreviation Decoder:

  • FDA – Food & Drug Administration
  • FDASIA – Food and Drug Administration Safety and Innovation Act of 2012 … signed July 9, 2012, effective 2013 through 2017
  • PDUFA – Prescription Drug User Fee Act
  • Rare disease – defined differently in every country, in the US it’s any disease with a US patient population less that 200,000 people.
  • Ultra-rare – a non-specific term usually applied to rare diseases with a patient population of less than 6-10,000 individuals.