{
  "abstract": "Introduction Hereditary Sensory Neuropathy Type 1 (HSN1), caused by variants in SPTLC1/SPTLC2 genes is a rare autosomal dominant condition. Complications include ulcers, osteomyelitis and limb amputation. A phase III trial investigating whether L-serine is an effective drug to slow disease progression (SENSE trial, NCT06113055) is ongoing. Despite its clinical characterisation, the socioeconomic burden of HSN1 remains underexplored. We designed an audit to assess the socioeconomic impact of HSN1 on patients under the care of a specialist peripheral nerve service.Methods Patients with confirmed HSN1 were invited to complete a questionnaire assessing the effects of their condition on various aspects of life, including career progression, workplace adjustments, driving, financial stability, and accessibility to NHS resources. The questionnaire also quantified the financial implications of privately funded services such as podiatry and orthotics.Results Preliminary findings from 10 patient responses indicates that HSN1 poses significant challenges. 90% of patients reported negative impacts on career progression, 80% required workplace modifications, and 40% experienced a significant salary reduction. All participants cited financial strain due to managing their condition.Summary The socioeconomic consequences of rare and chronic diseases like HSN1 are often understudied or not quantified objectively. The findings aim to inform strategies to enhance NHS access and funding for HSN1 patients and improve healthcare pathways.c.kramarz@ucl.ac.uk",
  "authors": [
    {
      "affiliations": [
        "Queen Square UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London"
      ],
      "name": "Kramarz Caroline"
    },
    {
      "affiliations": [
        "Queen Square UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London"
      ],
      "name": "Recica Lodina"
    },
    {
      "affiliations": [
        "Queen Square UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London"
      ],
      "name": "Rossor Alexander M"
    },
    {
      "affiliations": [
        "Queen Square UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London"
      ],
      "name": "Laurà Matilde"
    },
    {
      "affiliations": [
        "Queen Square UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London"
      ],
      "name": "Reilly Mary M"
    }
  ],
  "title": "12 Pilot study: health equality and socioeconomic impact in hereditary sensory neuropathy type 1 patients",
  "uid": "0b9cc988-2130-5520-a7e0-938e99e953e1"
}