Externally Led Patient-Focused Drug Development (EL-PFDD) Meeting on Fabry Disease

Patient-Focused Drug Development Meeting on Fabry Disease

Externally Led Patient-Focused Drug Development (PFDD) Meeting on MN

View The Recorded Meeting

View the Recorded Meeting

An exciting initiative by the National Kidney Foundation and Fabry Support & Information Group to inform the FDA about the patient perspectives of living with Fabry disease.
Due to the COVID-19 pandemic and to protect the health of our patients with Fabry disease, this will be a virtual meeting.
We want to hear from patients who have all types of symptoms and organ involvement from Fabry disease (kidney, heart, gastrointestinal, etc.).

Submit Comments After the EL-PFDD Meeting on Fabry Disease

If you attended the EL-PFDD meeting on Fabry disease on September 19 and did not enter the discussion, or if you did not attend, but viewed the live stream of the meeting, you can enter the discussion by sending a comment using the form (link, or whatever the proper term is) below. Your comments should address the topics that were discussed in the meeting (outlined below).

Comments will be accepted up to October 20, 2022 and will be incorporated into the Voice of the Patient report.
Section 1: "Disease Symptoms and Daily Impacts"
  1. Of all the symptoms of Fabry disease, which 1-3 symptoms have the most significant impact on you or your loved one’s life?
  2. How does Fabry disease affect you or your loved one on best and on worst days? Describe your best days and your worst days.
  3. Are there specific activities that are important that you or your loved one cannot do at all or as fully as you would like because of Fabry disease?
  4. How has your loved one’s ability to cope with the symptoms changed over time?
Section 2: "Clinical Trials for Fabry disease"
  1. What information would you want to know to inform your decision on enrolling in a clinical trial Fabry disease?
  2. In which type of trial would you be more likely to enroll – a trial for a drug designed to:
    a. Benefit the kidney alone but not slow or stop the overall disease progression
    b. Benefit the heart alone but not slow or stop the overall disease progression
    c. Reduce symptoms (e.g., pain, GI involvement, fatigue) alone but not slow or stop the overall disease progression
  3. For parents of pediatric patients: are you interested in enrolling your child in a clinical trial? If so, what factors would you consider in deciding whether to participate (e.g., age, whether symptoms have begun, whether already on ERT)? If not interested, why not?
Section 3: "Current Challenges to Treating Fabry Disease"
  1. What are you currently doing to help treat your condition or its symptoms?
  2. How well does your current treatment regimen treat the most significant symptoms of your disease?
  3. What are the most significant downsides to your current treatments and how do they affect your daily life?
  4. Assuming there is no complete cure for your condition, what specific things would you look for in an ideal treatment for your condition?

Register Online

Anyone who lives with or is interested in Fabry disease - with or without kidney involvement - is welcomed to attend. This includes patients of all ages, care partners, families, and friends, as well as physicians, researchers, and other interested individuals.
Each person (e.g., child, spouse, etc.) must register separately.
Watch this page for updates during week of September 12th:
  • You'll be able to submit comments on your experience with Fabry disease before the meeting
  • The link to join the meeting will be available on the day of the meeting (September 19th)

Take the patient survey

We need your input on how Fabry disease has affected your life. We need your input even if you can’t attend the meeting.
Your response will help us create the best meeting possible.
All information you provide in the survey will be kept strictly confidential.
Dr. Eric Wallace, Dr. Anjay Rastogi

What are EL-PFDD meetings?

Externally led patient-focused drug development (EL-PFDD) meetings bring together patients and care partners, US Food and Drug Administration (FDA) representatives, pharmaceutical companies, and doctors and researchers who are experts in the particular disease. For the meeting on Fabry disease, the goal is to hear from patients what it's like to live with Fabry disease with or without kidney involvement, so the FDA and pharmaceutical companies can understand the patient experience. This patient input can help the FDA make informed decisions on approvals of potential medicines for Fabry disease, and pharmaceutical companies to design medicines and clinical trials that are meaningful for patients.

The EL-PFDD meeting on Fabry disease

  • This will be a VIRTUAL MEETING on Monday, September 19, 2022 from 10:00 AM to about 3:15 PM Eastern Time
  • This meeting will be broadcasted with a NOVEL NEWSCAST FORMAT, with patient testimonies and remote audience participation
The meeting agenda consists of two brief presentations on Fabry disease by experts in the disease, a presentation by the FDA, four patient panels, and extensive audience discussion sessions. The broad discussion topics will be:
  1. Living With Fabry Disease Nephropathy: Disease Symptoms and Daily Impacts
  2. Clinical Trials in Fabry Disease Nephropathy
  3. Current Challenges to Treating Fabry Disease Nephropathy.
The meeting will be co-chaired by two leading nephrologists who are experts in Fabry disease:
Dr. Eric Wallace, University of Alabama at Birmingham
Dr. Anjay Rastogi, David Geffen School of Medicine at UCLA
Because the FDA wants to hear from only patients and their care partners, everyone else in the virtual audience will be in listening mode.

Why is this meeting important to me?

This EL-PFDD Meeting is a unique opportunity for you and your care partners to speak directly to the FDA and the Pharma industry and tell them:
  1. What it’s like to live with Fabry disease on a daily basis
  2. What you need in new medicines to make a meaningful difference in your life
  3. The type of clinical trial in which you might be willing to participate
  4. Many other things the FDA and Pharma want to hear so they understand what matters to Fabry disease patients regarding new treatments for the disease.
The FDA can use your input to judge whether new drugs seeking approval meet the needs of Fabry disease patients.
Pharmaceutical companies will use your input when they develop new treatments and design clinical trials for Fabry disease.

Event Details

September 19, 2022 | 10:00am – 3:15pm Eastern Time
This will be a virtual meeting. The link to join the meeting will be posted on this page on the day of the meeting (September 19).

Voice of the Patient Report

After the meeting, a report titled "Voice of the Patient" will be sent to the FDA. This will give the FDA a reference point for their decisions concerning the approval of potential medicines for Fabry disease. The report will be available for the public to read.

Find Out More

Soon after you register, you will receive an invitation to an Informational Webinar on the EL-PFDD Meeting. This webinar will provide the background so you can participate fully in the meeting.

Who benefits from EL-PFDD meetings?

Food and Drug Administration (FDA)

The FDA gains understanding of what it's like to live with a particular disease.
The FDA becomes informed of side effects and risks patients may be willing to accept to gain a certain level of symptom relief or slowing of their disease progression.
The FDA learns about patients' needs regarding new drugs, and what their preferences are for clinical trials for their disease.
EL-PFDD meetings assist the FDA in knowing if a new drug addresses patient needs.


Patients know the FDA and drug sponsors have heard their voices.
Patients' experiences are validated, reducing feelings of isolation.
Hearing other patients voice their experiences and needs helps patients to better self-advocate.
EL-PFDD meetings can help to bring new treatments to the market, which benefits patients.

Patient advocacy groups

EL-PFDD Meetings help these groups identify what needs exist for patient education and advocacy.
More effective advocacy increases public awareness and knowledge of the disease.
In addition, these meetings help patient advocacy groups connect patients with their peers.

Pharmaceutical companies

Drug sponsors gain insights into the major concerns of patients. This helps the companies develop treatments and design clinical trials that match patients' needs and preferences.
Drug sponsors learn which disease symptoms or treatment side effects are, or are not, tolerable by the patients. This helps the companies develop drugs that matter to patients.
With knowledge gained from EL-PFDD Meetings, pharmaceutical companies receive advice from the FDA on developing potential drugs and therefore help to advance medicines that meet patients' needs.

Hear from Previous Patient and FDA Participants

FDA Participant

I can say with certainty…that the stories that you shared with us today, your experiences with the disease will certainly impact how we at FDA will think about this disease, will approach our discussions with sponsors moving forward, and will really shape the development in the future of therapies for this disease.

Patient Participant

Being able to tell my story, be heard, and people empathizing and understanding the struggles this disease faces you with is indescribable.

FDA Participant

I think that your stories really highlight the urgency with which we need to find effective treatments for this disease, and also treatments that have better safety profiles than those that are currently out there.

Patient Participant

I liked that everyone was invited to speak freely and participate. It was an excellent opportunity to tell our stories.


If I take the Patient Survey, what will you do with the information I provide?

The information you provide will remain strictly confidential and will be used for planning the meeting.
Some of your responses may be included in the meeting, in the Voice of the Patient Report, or in other associated documents. Patient identification will always be removed and patient information will be presented as grouped data from many patients.

Is there a charge to attend the meeting?

No, this meeting is free and open to the public.

How do I register to attend the EL-PFDD meeting?

Click here to register for the meeting. The link to join the live stream will be sent before the meeting.

When and for how long is the EL-PFDD Meeting on Fabry disease?

The meeting will be on Monday, September 19, 2022 from 10:00am to about 3:115 Eastern Time

Is this EL-PFDD Meeting on Fabry disease for pediatric patients?

YES! We welcome Fabry disease patients of all ages.

What happens after the meeting?

NKF and FSIG will write the Voice of the Patient Report. This will be sent to the FDA and can be used to help in their decisions to approve potential new treatments for Fabry disease.

National Kidney Foundation

The National Kidney Foundation (NKF) is the oldest and largest non-profit health organization dedicated to preventing kidney diseases and improving the health and well-being of individuals and families affected by kidney disease. Education of patients and healthcare providers is a big part of the NKF’s work, and we support kidney patients by providing all sorts of educational materials, programs, and patient services.

Fabry Support & Information Group (FSIG)

The mission of the Fabry Support & Information Group (FSIG) is to raise awareness of Fabry disease and its symptoms, to advocate for community needs and to lead the fight for the most effective treatment possible and eventually a cure. FSIG provides a link for the Fabry community to information, each other, the medical community, researchers, the pharmaceutical industry, and regulatory authorities. FSIG strives to support affected families and individuals lead fuller lives.