The background story on how the HPBCD became and orphan drug (Hommage’ a Families, Parents)

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The Pulitzer Prize-winning Wall Street Journal science- and health writer, Amy Dockser Marcus, in her new book „We the Scientists” shows us a story of a group of dedicated medical professionals, pharmaceutical scientists, regulatory persons and parents whose children had previously been diagnosed with the rare, fatal, inherited genetic disease, called Nieman-Pick type C (NPC) disorder [1]. This rare, genetic defect, affects only about 200 individuals in the U.S. and 500 globally. Often healthy at birth, affected children “progressively” lose the ability to walk, talk, swallow and eat, most die by age before 20.
I assume that many of the readers of this blog are familiar with the story of the decade-long international R. and D. efforts that finally lead to the orphan drug designation of
2-hydroxypropyl-beta-cyclodextrin (HPBCD) for treatment of NPC.
Even though reading this book, one can learn that parents whose children were affected, got involved as „citizien scientists” helping to identify promising new compounds and devise experiments, giving prompt feedback to the doctors on the efficacy and side effects of the HPBCD treament. Parents recorded data about the children and even co-authored scientific papers sharing their fidings with the scientific community. They engaged directly with the US. Food and Drug Administration during the approval process.
During the past 50 years, therapeutic advancements have been driven by scientists conducting their initial studies inside the laboratories, behind closed doors. This book can be considered as a moving narrative about a group of patient advocated who revolutionized the way medical research is conducted, who tried to force the laboratory doors open for public during the therapy development.
Before publishing this book, Amy Dockser Marcus followed and chronicled the quest and efforts of families to save their children’s lives with this rare, deadly disease, for over ten years. [2-4]
In this lipid storage disorder not only are the patients young, but their parents are desperate to help scientists find a drug to slow down a fatal disease progression and to extend children’s lives. Author introduces us to the families, children, medical doctors, researchers and FDA officials. Parents highly motivated, have educated themselves, reading medical journals so obsessively that some have written articles for these same journals. They have convinced researchers and government agencies to launch studies and then cooperated closely, not only volunteering their children, but also gathering far more data than the usual parent. Promising treatments are in the pipeline, but there have been numerous bitter disappointments, and many affected children have suffered serious complications during trials.
In the process to accelerate new drug development, described in this book, science may be forever changed. It is possible that better therapies could emerge when patients and families forge research collaborations. It could even be a model for creating more democratic and effective research to greatly improve outcomes of the research efforts. This book is an inspiring reminder that rare diseases are not the only branch of medicine that can benefit from an active and engaged public. Not long ago, during the COVID pandemy, the Patient-led Research Collaborative, in the US, for example, played a key role in the identification of long COVID as a serious condition. [5]
So, it can be concluded that any of us faced with challenging medical conditions for us or those we love, can be scientists.

[1] AMY DOCKSER MARCUS: We the Scientists. Riverhead Books, New York, 2023




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