{
  "abstract": "Background methodology We present the UK’s largest single-centre adult Spinal Muscular Atrophy (SMA) cohort. Data was prospectively recorded at the National Hospital for Neurology and Neurosurgery (NHNN) from the beginning of the SMA treatment programme in 2022 for 100 patients (51% male; 49% female, including 3 people deceased during the study period; average age 32).Results SMA subtypes 55% SMA3 (mean age 35), 44% SMA2 (mean age 30), 1% SMA1 and no SMA4.89 people were treated at NHNN (including 2 stopping treatment) with 5 pending initiation and 6 treated elsewhere. More NHNN patients on active treatment (n=87) use Risdiplam (77%) than Nusinersen (23%). Notably, 95% of patients adhered to their original treatments, with only 3 switching interventions.Reviewing respiratory support, 43% used non-invasive ventilation, with 3 requiring tracheostomies. 45% also utilised cough-assistance devices. Where available (n=76), mean functional vital capacity was 2.58L (0.41L-6.57L).Reviewing dietary support, 14% had gastrostomies-in-situ and 18% used Therabite devices. Where available (n=72), average body mass index was 22.8 (10.2-41.0).Discussions Our results demonstrate heterogeneity in adult SMA demographics, treatment use and respiratory/nutritional support. Excellent treatment adherence implies both Risdiplam and Nusinersen are well-tolerated.We believe highlighting this variability enables scope for holistic management approaches.apoorvaanil.kumar@nhs.net",
  "authors": [
    {
      "affiliations": [
        "National Hospital for Neurology and Neurosurgery"
      ],
      "name": "Kumar Apoorva Anil"
    },
    {
      "affiliations": [
        "National Hospital for Neurology and Neurosurgery"
      ],
      "name": "Johnson Rebecca"
    },
    {
      "affiliations": [
        "National Hospital for Neurology and Neurosurgery"
      ],
      "name": "Desikan Mahalekshmi"
    },
    {
      "affiliations": [
        "National Hospital for Neurology and Neurosurgery"
      ],
      "name": "Dungavel Alexandra"
    },
    {
      "affiliations": [
        "National Hospital for Neurology and Neurosurgery"
      ],
      "name": "Benoy Mary"
    },
    {
      "affiliations": [
        "National Hospital for Neurology and Neurosurgery"
      ],
      "name": "Parton Matthew"
    }
  ],
  "title": "99 100 adults with spinal muscular atrophy at the dawn of treatment: demographics and treatment use",
  "uid": "82b81756-14ec-54c4-b4ca-0b0f2f05ac88"
}