Top 10 SMA Stories of 2022

The team at SMA News Today brought you daily coverage of the latest developments in treatment and advancements in research related to spinal muscular atrophy (SMA) in 2022.

We look forward to continuing to serve the SMA community in the new year. Here we’ve compiled a list of our Top 10 most-read articles of 2022, with a brief description of what made them relevant for our readers.

No. 10 — “SMA Screening Now Available to 87% of Newborns in US”

In January, Arizona and Louisiana began testing new babies for SMA, raising the total number of U.S. states doing newborn screening for the disease to 40. This type of screening, which tests for SMA in all babies within the first days of life, can facilitate early diagnosis, allowing faster initiation of treatment that leads to better clinical outcomes. Other states have since implemented SMA newborn screening programs — at present, such programs exist in 48 states, according to the nonprofit Cure SMA.

No. 9 — “Biogen Acquires New Experimental SMA Therapy BIIB115 From Ionis”

Early this year, Biogen exercised an option to acquire the experimental therapy BIIB115, previously called ION306, from Ionis Pharmaceuticals, which had been developing it. BIIB115 is designed to boost production of the SMN protein, whose deficiency causes SMA. It works in a similar manner to the approved therapy Spinraza (nusinersen), which also was originally developed by Ionis and later acquired by Biogen. According to Biogen, BIIB115 may allow for less frequent dosing than Spinraza, which could make it easier for patients to manage their treatment.

No. 8 — “Boy With SMA Type 2 Able to Walk, Play Wearing Exoskeleton at Home”

Researchers in Spain reported the case of a 6-year-old boy with SMA type 2 who experienced mobility gains after wearing Marsi Bionics’ ATLAS 2030 exoskeleton device at home for about two months, under the supervision of a physical therapist. Exoskeletons, or wearable robotic suits, are designed to offer support for people with muscle weakness in the lower limbs, helping them stand and walk when they might not be able to using just their muscles. ATLAS 2030 is approved in the European Union to aid children with SMA. With the device, the boy, who was on Spinraza, experienced improvements in walking, and was better able to engage in sports and interactive games.

No. 7 —  “Nonambulatory SMA Patients Show Gains With 2 Years of Apitegromab”

Apitegromab (SRK-015) is an investigational therapy being developed by Scholar Rock; it’s designed to strengthen muscles by blocking the activity of myostatin, a protein that limits muscle growth. The Phase 2 TOPAZ clinical trial (NCT03921528) tested the therapy in people with SMA types 2 or 3. At the Cure SMA Research & Clinical Care Meeting, scientists presented data from 35 participants who could not walk and who were also on Spinraza. Results indicated that after two years of treatment, these patients experienced improvements in standardized measures of motor function and upper limb performance.

No. 6 — “#MDA2022 – ‘Amazing’ Walking Ability Seen in SMA Children on Spinraza”

The Phase 2 NURTURE trial (NCT02386553) is testing the injectable therapy Spinraza in 25 children genetically diagnosed with SMA, who started treatment before the age of 6 weeks, prior to showing any symptoms. At the Muscular Dystrophy Association annual meeting, researchers presented the trial’s interim data, which had a median follow-up time of nearly five years. Results showed that all but two of the children were able to walk unassisted, and most began walking in timeframes that are typical for children without SMA.

No. 5 — “Double Take, SMA Runway Show, Features Styles With Accessibility”

Fashion met function at this year’s September New York Fashion Week, at a special Midtown Manhattan show called Double Take. It featured SMA patients, some of whom are wheelchair users, showing off clothing designed for both fashion and accessibility by the nonprofit Open Style Lab. The show was funded by Genentech — which sells the approved SMA treatment Evrysdi (risdiplam) — via the company’s community-based initiative SMA My Way. In an interview with SMA News Today, Andrea Saieh and Jenna Dewar, two designers of the Double Take project, talked about the project’s goal and the design process in collaboration with the SMA models. A recording of the runway show is available online.

No. 4 — “New Gene Therapy Shows Potential for Safety, Efficacy in Mouse Model”

Gene therapy for SMA aims to deliver to the body’s cells a healthy copy of the SMN1 gene, whose mutations cause the disease. Zolgensma, by Novartis, is the only gene therapy thus far approved for SMA. Researchers at CANbridge Pharmaceuticals and the Horae Gene Therapy Center, in the U.S., collaborated on a second-generation version of this gene therapy, aiming to improve its genetic payload delivery and reduce potential toxicities. Studies in a mouse model of SMA indicated that the novel therapy outperformed Zolgensma at extending the animals’ lifespan and improving motor function. The second-generation therapy also showed lower accumulation in the liver, indicating less toxicity.

No. 3 — “Determined Life of Service Keeps Man With SMA Type 2 Going at 66”

When Stephen Mikita was diagnosed with SMA type 2 in the 1950s, his family was told the 18-month-old probably wouldn’t live another six months. In an August video interview with SMA News Today, a now 66-year-old Mikita discussed his life with SMA, including how he’s used adaptive equipment over the decades, and the ways in which new therapeutic advances have improved his life. He also talked about his long career in law and advocacy, from drawing inspiration from a picture biography showing U.S. President Franklin D. Roosevelt in a wheelchair to serving as a clerk for one of the authors of the Americans with Disabilities Act, and as Utah’s assistant attorney general.

No. 2 — “Brothers With Matching Mullets Embrace a Lighter Side of SMA”

Brothers Nolan and Blake Shofner have always had an entrepreneurial streak — they started selling ice cream from a truck in 2016, and are now running Mullet Bros, a company that sells merchandise featuring logos of the pair with their distinctive haircuts. They also run a social media platform, Mullet Bros Co, which provides a gentle and humorous look at what life is like for Nolan, who has SMA type 1, a severe form. In a June interview with SMA News Today, the brothers discussed how they find reasons to laugh, their faith, and their adventures in business.

No. 1 — “New Study Suggests Zolgensma Could Work in Adults With SMA”

Zolgensma is the first and only gene therapy authorized to treat SMA. Clinical trials of the therapy focused on young children, and its therapeutic potential for adults remains unclear. To learn more, a team of researchers in Germany analyzed blood from 69 adults with SMA types 2 and 3. They found that only three participants had high levels of antibodies against the virus that Zolgensma uses to deliver its genetic payload. The results suggest these antibodies, which can reduce therapeutic efficacy, are unlikely to limit Zolgensma’s usefulness in adults. However, whether such treatment would be effective in this older patient population, who often have advanced disease progression, remains unclear.

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We are so grateful to have been able to share these and other stories with the SMA community this year. It’s our hope that we helped to better inform and improve the lives of everyone affected by SMA.

We wish all our readers a very happy 2023!