ポンペ病—『小さな命が呼ぶとき』

Pompe Disease: Extraordinary Measures

やや軽症の乳児型ポンペ病（糖原病Ⅱ型）の患児2人を抱えた両親，特に父親が糖生物学研究者とともに治療薬の開発に携わる話の映画化である。ポンペ病は呼吸筋罹患が目立つ筋疾患で，ライソゾーム病でもある。乳児型は心筋症や肝腫大も伴う。酵素補充療法が米国で2006年に承認されるまでの経過のノンフィクションを，映画では少し脚色している。難病患者を抱える家族の葛藤，患者会の力や，希少疾患をめぐる製薬企業の事情も描かれている。

Abstract

Extraordinary Measures is a 2010 film about parents who tried to develop a drug with a glycobiology scientist to save their children suffering from a milder subtype of infantile Pompe disease (non-classic infantile-onset form), which can be said as an intermediate type between infantile onset and late-onset types. This movie is based on a nonfiction book The Cure by Geeta Anand. Pompe disease (glycogen storage disease type 2) is a myopathy, that affects the diaphragm. Infantile Pompe disease presents cardiomyopathy and hepatomegaly. Enzyme replacement therapy for Pompe disease with Myozyme was approved by FDA in 2006. Activities of the patients and their families association, including fund-raising, were pictured in the film, as well as (1) negotiation with a venture capital firm, (2) management of a pharmaceutical company for an orphan drug development for a rare genetic disorder, and conflicts of the father who works for the pharmaceutical company and desperately wants to provide the products to his own children.