The news that GlaxoSmithKline would divest from rare diseases intrigued industry watchers and left employees at the UK's largest pharmaceutical worried about their livelihoods. But, for patient advocates like myself who had watched GSK become a global leader in the three decade long effort to pioneer gene replacement therapies, the news was devastating.
One of the treatments GSK will sell is a gene therapy for metachromatic leukodystrophy (MLD). My daughter Cal, who is now 7, was diagnosed with MLD at age 2. In three months, Cal lost the ability to walk, talk, and eat. She uttered her final world five years ago last August: "Daddy."
Today, Cal is paralyzed, blind and receives hospice care. We are grateful she still laughs and smiles.
Not long after Cal was diagnosed, I learned GSK licensed the MLD gene therapy research from the Telethon Institute in Milan. GSK's involvement in a disease that impacts 1 in 100,000 live births gave me hope. Learning that one of the largest pharmaceutical companies on the planet was going to take on your kid's ultra rare disease was like having your big brother stand up to a schoolyard bully.
Experts in the field called the results from GSK's gene therapy clinical trials for MLD "stunning." Children who should have been near death now attend school and ride bicycles and live remarkably normal lives.
For the past four years, I have worked every single day to get gene therapy to leukodystrophy patients.
The researchers at GSK took tremendous pride in the project. When I had the chance to do a "Patient Voices" event at the GSK headquarters in Pennsylvania, there was hardly a dry eye in the house when I told GSK employees about how much hope gene replacement therapy brought to families.
I pointed out that published papers could not show the amazing things I had witnessed, things like kids with MLD eating hot dogs, running outside and talking to their parents. Things that should have been impossible. Kids were getting a chance to grow up because of GSK.
The members of the rare disease team at GSK answered my phone calls, circulated my memos, and endured my nagging and prodding to get gene therapy to the US sooner rather than later. I liked to remind them, "medical miracles are hard work. We are doing this for my daughter Cal and the kids like her." My colleagues at GSK understood that I had to be so relentless because I was honoring Cal and all the kids like her. You see, there is a notebook in my office with the names of 13 children whose parents I sent condolence cards to. Every single time a child died, I wrote these parents a letter to promise how I would not stop until gene therapy for MLD was available to children in the US.
Then Ms. Walmsley decided to divest GSK from the gene therapy assets for MLD, ADA-SCID (Strimvelis), and Wiskott-Aldrich.
Ms. Walmsley was correct to understand that GSK would never have made money on gene therapy for MLD. During a speech last April, Ms. Walmsley seemed to indicate she would shift gears when she stated GSK would focus on “real winners” – medicines that generate substantial returns.
The implication that gene therapy for MLD was not worth GSK's time and resources was wounding. It also seemed to suggest Ms. Walmsley did not understand the great value of what GSK had already accomplished.
So, let me explain. The MLD children were teaching researchers how they could tame the HIV virus to build lentiviral vectors. In gene replacement therapy, doctors use vectors, constructed out of viruses stripped of their harmful properties, to infect patients with the working copies of the broken genes that cause a disease. Gene therapy is more than a cure, it actually slams the brakes on the disease and prevents children with MLD from getting sick.
GSK researchers understood that if they could stop MLD, a devastating neurological disease that attacks the central nervous system, they would be able to take on thousands of other disorders caused by a single faulty gene. And while GSK, under Ms. Walmsley's leadership wants to pursue the admirable goal of treating HIV, they did not seem to appreciate how GSK was already using HIV to save children's lives and conquer disease.
I am surprised Ms. Walmsley could not recognize the inherent value of this effort.
If gene replacement therapy sounds amazing and remarkable: it is. But medical miracles don't come cheap. Gene therapies are costly with the price tag ranging from $600k to $1 million dollars per patient. GSK's senior leadership was right to worry about the bottom-line. Gene therapy industry leaders will struggle to construct a sustainable business model for these treatments in the years to come.
Payers and politicians will balk at paying six figures for a treatment that we are still finding the words to describe.
Given all the uncertainties, especially with the concerns from payers about how much to charge for a medical miracle, it made practical sense for GSK to pull out of gene therapy for rare diseases. But, I would like to point out to Ms. Walmsley how the MLD families had paid an incredible price to advance this research.
Gene therapy needs time to work, and symptomatic MLD children like my daughter do not benefit from gene therapy. Finding a presymptomatic MLD child meant a family would sacrifice one child to find the other one in time to help them.
Imagine a clinical trial where most every family watched one child succumb to the disease while they fought to save another. The researchers had faced a Sophie's Choice dilemma in every patient they treated.
And finally, in case you have any doubts about the lives GSK's gene therapy for MLD has changed, here is a photo of the beautiful children who were treated for MLD with gene therapy.
These children should be on feeding tubes, receiving hospice care, nonverbal and dying. Instead, here they are last May at our gala smiling and laughing and giving everyone who meets them the incredible sense they are witnessing something rare and remarkable.
I am just sorry Ms. Walmsley never had the chance to meet them.
I suspect she would feel differently about the research she did not believe was a "winner."
She would have seen GSK had something so much better: a miracle.
