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Externally-Led PFDD Meeting

on Barth Syndrome


What You Need To Know

Barth Syndrome Foundation (BSF), a patient advocacy organization representing those who suffer from and care for individuals with Barth syndrome (BTHS), is holding the EL-PFDD meeting on BTHS between our community and the U.S. Food and Drug Administration (FDA). The EL-PFDD meeting for BTHS will advance BSF’s mission: Saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

Q: What is an externally-led Patient-Focused Drug Development (PFDD) Meeting?

A: PFDD meetings integrate patient insights into the drug development process. Following the successful model that the FDA developed to host similar meetings, the half-day event will focus primarily on a range of patient viewpoints on Barth syndrome (BTHS), covering the symptoms and impacts to daily life that are most important to patients and their perspectives on existing and future treatments. This input can help inform the FDA’s decisions and oversight during drug development and the approval of new therapies.

Q: What makes our PFDD meeting so important?

A: BSF is the 14th organization out of 7,000+ known rare diseases to ever host an externally-led PFDD meeting with the FDA. In addition, our PFDD meeting is the first to be held outside of the metro Washington DC area. The meeting will take place in Clearwater Beach, Florida, to facilitate participation by the more than 350 attendees (BTHS affected individuals, their families, and researchers) at the 9th International Scientific, Medical & Family Conference. This is a once-in-a-lifetime event for our community to increase awareness and educate the FDA on the challenges of living with BTHS and influence regulatory decision making. 

Q: What is the format of the meeting?

A: The agenda will consist of speakers and panelists who will educate the FDA about living with BTHS. There will be two panels consisting of affected individuals and caregivers who will provide the FDA an insider glimpse of the challenges affected individuals face daily. This groundbreaking meeting will include facilitated discussions to provide additional perspectives from people in the audience with BTHS and their caregivers.

Q: Why is it important to educate the FDA?

A: Our goal is to increase awareness of the FDA and other stakeholders in the drug development process on the impact that BTHS has on quality of life for affected individuals and families. In the U.S. alone, there is one clinical trial in progress and more on the horizon. The PFDD meeting gives the BTHS community the opportunity to inform the FDA what matters most to affected individuals. Your input will impact clinical trial design and improve outcome measures to reduce comorbidities.

Q: What are outcome measures?

A: An outcome measure is the result of a test or tests that are objectively used to determine the baseline function of a patient at the beginning of a treatment. Throughout the clinical trials process, the same tests can be used to determine progress and treatment efficacy.

Q: What are comorbidities?

A: Comorbidities are the simultaneous presence of two or more diseases that typically are a result of, or strongly related to the primary underlying cause which in our community is BTHS.

Q: Who should attend the PFDD Meeting?

A: Numbers matter! All BTHS community members (affected individuals, caregivers, and family members) should join us either in person or by webcast to strengthen our impact on the FDA. If by webcast, we encourage you to participate whether you live inside or outside the United States. That’s because BTHS knows no boundaries and we need the perspective of our global community. Researchers, whether from academia or industry, are also encouraged to attend. We need your support and partnership.

Q: How can I contribute to the meeting and mission?

A: There are many ways you can contribute.

  1. Get the word out and post to social media #PowerUpPFDDMeeting.
  2. Urge fellow members of the BTHS community to attend the meeting, whether in person or by live webcast.
  3. Actively participate in the live polling during the meeting. Don’t forget to download the Poll Everywhere App (
  4. Raise your hand to contribute to the moderated discussion.
  5. Submit written statements to the FDA. Here's how.
  6. Sponsor our Patient-Focused Drug Development fund. Your contribution will be tax deductible.

Externally-Led PFDD Meeting Overview

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