Highlights

Read some of the highlights from the Barth Syndrome Journal. The purpose of the journal is to provide accurate and relevant information, as it relates to the Barth Syndrome Foundation and Barth syndrome, to affected families, the medical community faculty and staff, research scientists, donors and the general public, in a timely and accurate manner.


Volume 18, Issue 2

Profiles in Courage: The Externally-Led Patient-Focused Drug Development Meeting

By Arnold Strauss, MD, Professor of Pediatrics, University of Cincinnati and Cincinnati Children's Hospital, Cincinnati, OH; Scientific and Medical Advisory Board, Barth Syndrome Foundation (BSF)


I hope you were present on July 18, 2018, with me and many members of the BSF Scientific and Medical Advisory Board (SMAB) at the afternoon long externally-led Patient-Focused Drug Development (PFDD) Meeting. If you were not able to attend, please find five hours to view the event at https://www.barthsyndrome.org/newsevents/pfddmeeting/livestreaming.html. It was an extraordinary event for several reasons.

First, it was, we believe, the very first time that Federal Drug Administration (FDA) officials travelled away from Washington to attend a PFDD meeting. Second, it was an opportunity for all of us involved in BSF to focus on the long awaited possibility that drug therapy to improve Barth syndrome (BTHS) is on the horizon, a welcome development, long overdue. Third, the presentations, family and patient videos, and discussion provided poignant, impactful, and emotional descriptions of the clinical manifestations, family burden, and difficult outcomes for all to hear and feel. For the FDA representatives, this was a time to learn about BTHS and the need for intervention and specific therapies. This was, of course, the goal, and the goal was admirably achieved for all of us.

Fourth, and to me the most incredible, the afternoon was a “Profile in Courage”. This is the title of a book by then Senator Jack Kennedy, read during my youth, but it is a highly apt description of those who presented, commented, and participated. Courage because of the open, frank, and difficult subjects mentioned, including the deaths of beloved family members, sons and brothers; of struggles with addiction and depression; of fighting to live through chronic fatigue every day; of taking many medications and shots to fend off infection and heart failure; and of nutritional challenges. Courage because of knowing future outcomes, while dealing with those symptoms. Courage to participate in clinical studies despite fatigue, uncertainly, pain, and the stress of doing so because BTHS patients and parents know that this is the only path to new knowledge and finding new therapies. And to participate in such studies over many years of attendance at BTHS meetings without the certainty of benefit to oneself. I know from discussions with several SMAB members who attended and with many family members that the courage of the participants was obvious and greatly admired. And, that courage to be open and frank provided even greater incentive to the scientists and clinicians to give our best, to push forward as quickly as possible, and to make a difference for BTHS patients NOW. I have been at several BTHS meetings, worked in the laboratory with BTHS animal models, and cared for BTHS patients for over 20 years. The PFDD meeting was the most concentrated and forceful lesson to go faster that I have experienced in all of those years.

During the PFDD meeting, I was seated with one of the FDA representatives, a biochemical geneticist. Both by watching her response and talking with her during the breaks, it was apparent that the message got through. We shared some tears during the presentations, we watched every second of the videos, and we never touched our smart phones. I am certain that this event will carry over to the time that the FDA reviews potential treatments and will help to expedite that review so that interventions can move forward. I also believe that the impact will go beyond BTHS because so many other rare genetic disorders require similar review. I think the BTHS story will facilitate approval of interventions, including gene therapies, for other rare and orphan diseases through the FDA.

For myself and the members of the SMAB, I thank the presenters at the PFDD meeting, those who commented, and all of the BTHS families and patients for your amazing courage, your honesty, your humility, your hard work, and your friendship. On July 18, you were a “Profile in Courage” for all to see and hear. You made a difference for the future.

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