The million-dollar drug

How a Canadian medical breakthrough that was 30 years in the making became the world’s most expensive drug — and then quickly disappeared

People with lipoprotein lipase disorder (LPLD) are missing a protein that processes dietary fat. This can cause their blood to turn white. (Craig Chivers/CBC)

(Kelly Crowe/ CBC) — It is one of this country’s great scientific achievements.

The first drug ever approved that can fix a faulty gene.

It’s called Glybera, and it can treat a painful and potentially deadly genetic disorder with a single dose — a genuine made-in-Canada medical breakthrough.

But most Canadians have never heard of it.

A team of researchers at the University of British Columbia spent decades developing the treatment for people born with a genetic mutation that causes lipoprotein lipase disorder (LPLD).

LPLD affects communities in the Saguenay region of northeastern Quebec at a higher rate than anywhere else in the world.

Montreal psychologist Cynthia Turcotte, 42, was born with LPLD, but wasn’t diagnosed until it almost killed her when she was eight months old.

As a result of the gene mutation, her body is missing an essential protein that processes dietary fat. Her blood becomes thick and white with fat particles that can destroy her pancreas. (…)

read full story

share/partager