Buckhannon man raises awareness on Rare Disease Day
SMA is a progressive neuromuscular disorder that affects functions like breathing, swallowing and walking. According to the SMA Foundation, there are 10,000-25,000 children and adults in the U.S. with the disease.
12 News spoke with Bryan Samples, a Buckhannon man who was diagnosed with SMA at 18 months old, and despite the disease creating hurdles in his life, he's been able to graduate, get married and live his life to the fullest.
With all of these accomplishments, Samples has a message of hope for others like him.
'If you want something, go after it, never think that you're less than anybody else. You can lead a normal life and you can do anything anybody else can do, you just might have to do it in a different way,' Bryan 'James' Samples, Advocate for Rare Disease Awareness said.
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Samples said he's looking forward to a world where there is a cure for SMA, thanks to advancements in medication Evrysdi, which he's been taking for a while now and has seen changes.
'As long as things keep on getting better, you know, in the future we might not even know that someone has spinal muscular atrophy and that's pretty amazing,'
To learn more about the medication, you can go here.
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Start Spinal Muscular Atrophy Treatment at Birth?
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Ionis announces Biogen to advance salanersen into SMA registrational studies based on positive interim Phase 1 results
– Investigational salanersen (ION306/BIIB115) developed using novel Ionis antisense chemistry with the potential to achieve high efficacy and once-yearly dosing – – Interim Phase 1 data show children with SMA previously treated with gene therapy experienced a substantial slowing of neurodegeneration and clinically meaningful improvements in motor function following initiation of salanersen – – Biogen is engaging with regulators to advance salanersen to registrational stage studies – CARLSBAD, Calif., June 25, 2025--(BUSINESS WIRE)--Ionis Pharmaceuticals, Inc. (Nasdaq: IONS) today announced that its partner, Biogen, shared positive topline results from the Phase 1 study of salanersen (ION306/BIIB115), an investigational antisense oligonucleotide (ASO) being developed for the potential treatment of spinal muscular atrophy (SMA). 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"We're proud to have discovered salanersen, which builds on the foundation we established with SPINRAZA and further supports Ionis' long-standing leadership in neurology and innovative RNA-targeted medicines. We are deeply grateful to the patients, families and investigators who participated in this study and look forward to continuing to work with Biogen to support the SMA community." Salanersen was invented by Ionis using a novel antisense chemistry designed to enhance potency, stability and durability. This advanced molecular design has the potential to deliver long-term results with long-interval dosing. In addition to safety and NfL, exploratory clinical outcome data were evaluated for the subgroup of participants with at least one year of follow-up at the time of the interim analysis (n=8 participants aged 2-12 who received 40 mg of salanersen). Half (4/8) of these participants achieved new WHO motor milestones that they previously could not achieve on their own or for which they required assistance, such as walking, crawling, standing or sitting. Furthermore, these participants experienced clinically meaningful improvements in motor function from baseline to one year, including a 3.3-point (SD 4.46) mean improvement from baseline on the Hammersmith Functional Motor Scale – Expanded (HFMSE) and a 5.3-point (SD 4.75) improvement on the Revised Upper Limb Module (RULM). "Despite the remarkable therapeutic advancements in the field of SMA over the past decade, there remains critical unmet needs. Salanersen represents the next phase of Biogen's ongoing pursuit to address these needs," said Stephanie Fradette, Pharm.D., Head of the Neuromuscular Development Unit at Biogen. "We are encouraged by the available data and eager to move salanersen into the next stage of development as quickly as possible. We are deeply grateful for the trial participants and their families, investigators, and site staff." The cumulative interim data from the Phase 1 study indicate that salanersen was generally well tolerated at the 40 mg and 80 mg doses, with most adverse events (AEs) mild to moderate in severity. The most common AEs were pyrexia and upper respiratory tract infection. Biogen is currently engaging with global health authorities regarding the design of the Phase 3 studies. Ionis discovered salanersen and licensed the global development, manufacturing and commercialization rights to Biogen Inc. About Spinal Muscular Atrophy (SMA) SMA is a rare, genetic, neuromuscular disease that affects individuals of all ages. It is characterized by a loss of motor neurons in the spinal cord and lower brain stem, resulting in progressive muscle atrophy and weakness. SMA is caused by a deficiency in the production of survival motor neuron (SMN) protein due to a damaged or missing SMN1 gene, with a spectrum of disease severity. Some individuals with SMA may never sit; some sit but never walk; and some walk but may lose that ability over time. In the absence of treatment, children with the most severe form of SMA would usually not be expected to reach their second birthday. SMA impacts approximately 1 in 10,000 live births, is a leading cause of genetic death among infants and causes a range of disability in teenagers and adults. About SPINRAZA SPINRAZA® (nusinersen) 12 mg/5 mL injection is approved in more than 71 countries to treat infants, children and adults with spinal muscular atrophy (SMA). As a foundation of care in SMA, more than 14,000 individuals have been treated with SPINRAZA worldwide. SPINRAZA is an antisense oligonucleotide (ASO) that targets the underlying cause of motor neuron loss by continuously increasing the amount of full-length survival motor neuron (SMN) protein produced in the body. It is administered directly into the central nervous system, where motor neurons reside, to deliver treatment where the disease starts. SPINRAZA has shown efficacy across ages and SMA types with a well-established safety profile based on data in patients treated up to 10 years, combined with unsurpassed real-world experience. The most common adverse events observed in clinical studies were respiratory infection, fever, constipation, headache, vomiting and back pain. Laboratory tests can monitor for renal toxicity and coagulation abnormalities, including acute severe low platelet counts, which have been observed after administration of some ASOs. Biogen licensed the global rights to develop, manufacture and commercialize SPINRAZA from Ionis Pharmaceuticals, Inc. (Nasdaq: IONS). Please click here for Important Safety Information and full Prescribing Information for SPINRAZA in the U.S., or visit your respective country's product website. About Ionis Neurology Ionis has been at the forefront of discovering and developing leading neurological disease medicines, including SPINRAZA® (nusinersen), the first approved treatment for spinal muscular atrophy, WAINUA™ (eplontersen), a medicine to treat hereditary transthyretin-mediated amyloid polyneuropathy (ATTRv-PN), and QALSODY® (tofersen) for SOD1-ALS. The clinical-stage portfolio includes 13 therapies, of which eight are wholly owned by Ionis. Ionis' investigational portfolio includes medicines for which there are few or no disease modifying treatments, such as rare diseases including Angelman syndrome, Prion disease and Alexander disease and more common conditions such as Alzheimer's and Parkinson's disease. About Ionis Pharmaceuticals, Inc. For three decades, Ionis has invented medicines that bring better futures to people with serious diseases. Ionis currently has six marketed medicines and a leading pipeline in neurology, cardiology, and select areas of high patient need. As the pioneer in RNA-targeted medicines, Ionis continues to drive innovation in RNA therapies in addition to advancing new approaches in gene editing. A deep understanding of disease biology and industry-leading technology propels our work, coupled with a passion and urgency to deliver life-changing advances for patients. To learn more about Ionis, visit and follow us on X (Twitter), LinkedIn and Instagram. Ionis Forward-looking Statements This press release includes forward-looking statements regarding Ionis' business and the therapeutic and commercial potential of salanersen (ION306/BIIB115), our commercial medicines, additional medicines in development and technologies. Any statement describing Ionis' goals, expectations, financial or other projections, intentions or beliefs is a forward-looking statement and should be considered an at-risk statement. Such statements are subject to certain risks and uncertainties including those inherent in the process of discovering, developing and commercializing medicines that are safe and effective for use as human therapeutics, and in the endeavor of building a business around such medicines. Ionis' forward-looking statements also involve assumptions that, if they never materialize or prove correct, could cause its results to differ materially from those expressed or implied by such forward-looking statements. Although Ionis' forward-looking statements reflect the good faith judgment of its management, these statements are based only on facts and factors currently known by Ionis. Except as required by law, we undertake no obligation to update any forward-looking statements for any reason. As a result, you are cautioned not to rely on these forward-looking statements. These and other risks concerning Ionis' programs are described in additional detail in Ionis' annual report on Form 10-K for the year ended December 31, 2024, and most recent Form 10-Q, which are on file with the Securities and Exchange Commission. Copies of these and other documents are available from the Company. In this press release, unless the context requires otherwise, "Ionis," "Company," "we," "our" and "us" all refer to Ionis Pharmaceuticals and its subsidiaries. Ionis Pharmaceuticals® is a trademark of Ionis Pharmaceuticals, Inc. SPINRAZA® and QALSODY® are registered trademarks of Biogen. WAINUA™ is a registered trademark of the AstraZeneca group of companies. View source version on Contacts Ionis Investor Contact: D. Wade Walke, 760-603-2331 Ionis Media Contact: Hayley Soffermedia@ 760-603-4679 Sign in to access your portfolio
