Parents and caregivers of patients with spinal muscular atrophy (SMA) take great interest in orphan drug development, soaring healthcare costs,…
Articles by Larry Luxner
This year's Boston Rare Disease Film Festival will Feature an SMA Documentary Gareth Burghes' documentary, Life & Atrophy, which runs 24 minutes, will be part of Disorder: The Rare Disease Film Festival — a first-of-its-kind event in Boston this early October. The festival covers more than two dozen rare diseases. The 30 films, which will be shown in seven screenings, range in length from one to 65 minutes. Life & Atrophy is billed as “a documentary following one family’s story to defy genetic fate.” Burghes said the idea for his movie stemmed from his geneticist father's involvement in clinical trials of SMA patients. It tells the story of Miles McIntosh, a 5-year-old boy with SMA type 2, as his parents, Nikki and Tony McIntosh, sign him up for a trial to test the recently FDA-approved therapy Spinraza. Burghes said that SMA “has gone from an orphan disease with nearly nothing known about it, to now having its first FDA-approved drug on the market, as well as other treatments in the pipeline. The film represents what can be accomplished when families, researchers, and pharmaceutical companies join together to solve complex diseases.” The Boston film festival is the brainchild of two fathers --Daniel DeFabio, whose son has Menkes disease, a rare disorder that affects only one in 100,000 newborns -- and Bo Bigelow, who's daughter Tess has a genetic disease that’s even more rare. Only 23 people worldwide have it; there isn’t even a name to describe her illness. The Rare Disease Film Festival runs Oct. 2-3 in Boston. The SMA documentary Life & Atrophy will air at 2:30 p.m. on Oct. 2nd .
At nine months of age, Brianna Albers was diagnosed with spinal muscular atrophy (SMA) type 2. As a 22-year-old college…
As potentially lifesaving, but costly, therapies become available for rare genetic diseases — such as Spinraza (nusinersen) for spinal…
Biogen’s Spinraza (nusinersen), an expensive but lifesaving medication for thousands of babies born with spinal muscular atrophy (SMA), is becoming…
In the roughly four months since the U.S. Food and Drug Administration (FDA) approved Spinraza (nusinersen) to treat all…