Gene Therapy Trial Wrenches Families as One Child’s Death Saves Another

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| MIT Technology Review.

An important test of gene therapy in Italy is bringing joy and heartbreak to families afflicted with a rare brain disease by offering affected siblings unequal shots at life.

Amy Price, an American from Omaha, Nebraska, says that in 2011 she did something no mother should have to, leaving one sick child behind at a rented flat in Milan with caretakers while accompanying her youngest for a life-saving treatment at an Italian hospital.

Her son Giovanni is now six and healthy, but her daughter Liviana went untreated and passed away in 2013.

The study, at the San Raffaele Telethon Institute for Gene Therapy, is proving dramatically effective in stopping metachromatic leukodystrophy, or MLD, an inherited disorder that strikes in childhood and destroys the brain’s white matter, leading to paralysis and dementia.

The therapy involves adding a correct copy of a single gene to a child’s bone marrow. But it only works well if it’s given before symptoms develop: by the time most children, including Liviana, are diagnosed it’s too late. The exception is when a family is alerted by one sick child that others are at risk.

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