Purpose

Advances in gene therapy and precision medicine have led to a growing number of novel treatments for rare genetic diseases. Patients/families may lack access to up-to-date, accurate, and relevant information about these treatments. Social media offers one potentially important resource for these communities. Our goal was to understand how patients/families with spinal muscular atrophy (SMA)—a rare genetic condition—used social media to share, consume, and evaluate information about the novel treatment nusinersen (Spinraza) following the drug’s approval.

Methods

We conducted qualitative, semistructured interviews with 20 SMA patients or parents of patients, deriving themes and subthemes through content and thematic network analysis. Participants also completed a demographic survey.

Results

Participants described leveraging social media to learn about nusinersen treatment, make informed treatment decisions, and advocate for/access treatment. They also described critically evaluating the trustworthiness of nusinersen-related information on social media and the privacy risks of social media use.

Conclusion

Patients/families used social media to navigate the new and dynamic landscape of nusinersen treatment for SMA, while attempting to mitigate misinformation and privacy risks. As new treatments become available, providers and patients/families may benefit from proactively discussing social media use, so as to maximize important benefits while minimizing risks.

中文翻译：

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患者和家庭社交媒体使用一种罕见的遗传疾病的新疗法：定性访谈研究。

目的

基因治疗和精准医学的进步导致了越来越多的罕见遗传疾病的新疗法。患者/家庭可能无法获得有关这些治疗的最新、准确和相关信息。社交媒体为这些社区提供了一种潜在的重要资源。我们的目标是了解患有脊髓性肌萎缩症 (SMA)（一种罕见的遗传病）的患者/家庭如何在药物获批后使用社交媒体分享、消费和评估有关新型治疗药物 nusinersen (Spinraza) 的信息。

方法

我们对 20 名 SMA 患者或患者家长进行了定性、半结构化访谈，通过内容和主题网络分析得出主题和子主题。参与者还完成了人口统计调查。

结果

参与者描述了利用社交媒体了解 nusinersen 治疗、做出明智的治疗决定以及倡导/获得治疗。他们还描述了对社交媒体上 nusinersen 相关信息的可信度以及社交媒体使用的隐私风险的批判性评估。

结论

患者/家庭使用社交媒体来导航 SMA 的 nusinersen 治疗的新动态景观，同时试图减轻错误信息和隐私风险。随着新的治疗方法的出现，提供者和患者/家庭可能会从积极讨论社交媒体的使用中受益，从而最大限度地提高重要利益，同时最大限度地降低风险。