Filmmakers’ Documentary on Pivotal Time in SMA Treatments Nears Fundraising Deadline


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Three filmmakers are raising funds for a feature-length documentary about how science and the rare disease community’s needs came together to make Biogen’s Spinraza the first approved treatment for spinal muscular atrophy (SMA).

Their month-long, $25,000 Kickstarter campaign ends in four days, at 2:48 p.m. Sunday, Oct. 22. If they fail to reach their goal, they will return the donations. They’re close, at nearly $20,000. They just need an extra push.

Artemis Joukowsky, Cray Novick and Gareth Burghes are inviting anyone interested to listen to a discussion about the film at 10 a.m. Thursday U.S. Eastern Standard Time on Facebook Live. It will be on two Facebook pages, one titled Disorder: The Rare Disease Film Festival Facebook and another titled “The Cure?.”

The talk will feature Burghes and the founders of the film festival, Daniel DeFabio and Bo Bigelow, both fathers of children with rare diseases. The video will remain up for anyone to watch afterward, Burghes said.

Burghes worked in his father’s lab when he was younger. His father’s work with SMA clinical trials prompted him to direct a 24-minute documentary called “Life & Atrophy.”

It’s about 5-year-old Miles McIntosh, who was born with SMA type 2, and his parents as they sign Miles up for a clinical trial to test Spinraza, which at the time had yet to obtain Food and Drug Administration approval. The agency authorized the drug, which works by replacing a protein missing in SMA, in December of 2016.

Patients with SMA are born without the SMN1 gene. Instead, they have two copies of survival motor neuron 2 (SMN2).Unfortunately there is a problem with a piece of protein in SMN2. Spinraza uses an antisense oligonucleotide, which is a synthetic material that replaces the missing protein in SMN2. This results in an increased amount of the SMN protein.

“Life & Atrophy” was shown at the first Disorder: The Rare Disease Film Festival in Boston this month. This is where Burghes met Joukowsky and Novick, who had already started the Kickstarter campaign for their own feature-length documentary.

Burghes had been working on a film that delved more into the science behind SMA treatments. The three decided to join forces to save about two years of filmmaking.

In an interview with SMA News Today, Burghes said the loose timeline for the film, which has a working title of “The Cure?,” is about two years, depending on the budget. The $25,000 in Kickstarter donations will get the project rolling, but will only go so far, he said. Still, it will help capture on film special moments with SMA families and SMA treatment researchers.

Those moments could be the first “whiff of magic” that Burghes says is possible in all films, the stuff that makes a movie special.

“There’s always a certain magic to cinema,” he said. “With documentary, you can put yourself in the right place at the right time to capture that magic that helps make a film a film.”

This is the first phase of funding if all goes according to plan, Burghes said. “We do want to raise more money and workshop the film so it can be shown far and wide,” he said. “SMA is a very specific disease, but all the human elements and the science elements are very universal.”

Burghes learned about Spinraza’s approval while he was editing “Life & Atrophy.” He felt something then, that a community was on the brink of something bigger than himself.

“In the new feature, we’re looking to open that up and tell a story more about the mosaic of the community that involves an orphan disease with nearly nothing known about it, to this new treatment that’s turned everything around,” he said. “It feels like people are holding their breath. Some are saying the word cure, but for just some patients.”

The film will be based on the medical revolution that led to Spinraza and other treatments that are being developed that could lead to a cure, Burghes said.

“We want to get in the lives of patients and families and also behind the science to understand how we got to this point,” he said. “We definitely want to incorporate in the film the impact the discoveries of SMA have in other muscular conditions, and also in other medical disorders beyond those.”

Spinraza is a big part of the film, “as it should be,” Burghes said. “But we’re looking at expanding the film beyond the horizon of Spinraza.

“We do want to take the time to look at the community model and how it’s driven the whole field forward,” he said. “Now there’s not just one treatment, but others in clinical trials,” he said.

“We really hope to recognize the myriad of strategies taking place in the SMA community today. And it might not be that one treatment fits all. There may be multiple strategies to treat or halt the disease in some way.”

With treatment development progressing rapidly, the film will have an expiration date, the three filmmakers are convinced.

“Artemis, Cray and I have discussed this as a story that needs to be told. And it’s a time-limiting story. It’s happening right now. It’s a pivotal moment,” Burghes said. “That’s why we want to be on the ground to see it as the story unfolds.”