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HULA VISTA, Calif. — If Zoe Dewaghe wants ice cream for breakfast, she gets ice cream for breakfast. There’s a different set of rules for her younger brother, Zach: He gets oatmeal instead.

That’s because five-year-old Zoe has a rare genetic disease called Sanfilippo syndrome. Her body can’t metabolize certain sugars properly, leading to progressive brain damage. She’ll gradually lose the ability to speak, to move, to recognize her surroundings. Most patients don’t live into adulthood.

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  • I enjoyed reading this story, which highlights the challenges in rare diseases. It’s a pity that you did not report on the French biotech Lysogene, which is active in Sanfilippo gene therapy and was founded by a parent of a child with the disease: http://www.lysogene.com/about/management-team/
    Also, you explain the high price tag for these therapies well, but incompletely. The manufacturing costs for drugs for extremely rare diseases, even for conventional drugs, are staggering, because as for high-volume drugs, the system of quality, manufacturing and drug safety surveillance must be applied to them. However, these costs can only be divides over a much smaller number of units sold.

    Disclosure: I work in pharma and rare diseases. I have no relation to Lysogene.

  • Stock promoters responsible for numerous biotech wipeouts run this “company,” while ABEO temporarily trades near the highest market capitalization in its 20-year history.

  • Impactful writing and exemplary stories. The viewpoints of regulators, parents, the affected children and siblings, the pharma and biotech folks, foundations and physicians are presented vividly. Not only can these different perspectives be understood; they can be felt. Much accomplished in a few words. Well done.

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