Larry Luxner,  —

Parents and caregivers of patients with spinal muscular atrophy (SMA) take great interest in orphan drug development, soaring healthcare costs, patient assistance programs and controversial “right-to-try” legislation — all issues on the agenda during the upcoming Rare Disease & Orphan Products Breakthrough Summit. “One of the chief challenges of 21st-century…

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 senior from Rosemount, Minnesota, she also struggles with social anxiety, dysthymia (mild depression), and disordered sleep. In society’s view, she says, that makes her a bit of a monster. “Disabled…

As potentially lifesaving, but costly, therapies become available for rare genetic diseases — such as Spinraza (nusinersen) for spinal muscular atrophy (SMA) — neurologists are finding themselves in the increasingly uncomfortable position of deciding which patients are most likely to benefit, and how they can help families pay for…

Biogen’s Spinraza (nusinersen), an expensive but lifesaving medication for thousands of babies born with spinal muscular atrophy (SMA), is becoming available to more and more Americans as private and government health insurers either cover it or ease coverage restrictions. Eighty percent of Americans with private health insurance, and 60 percent…

In the roughly four months since the U.S. Food and Drug Administration (FDA) approved Spinraza (nusinersen) to treat all types of spinal muscular atrophy (SMA) in both children and adults, dozens of hospitals and clinics across the nation have begun dosing patients. Yet insurers are reluctant to pay for…