Queen Square Centre for Neuromuscular Diseases


Natural History study of HSN1

Natural History study of Hereditary Sensory Neuropathy type 1 (HSN1) secondary to SPTLC1 and SPTLC2 mutations

SponsorUniversity College London Hospitals
CIProfessor Mary M Reilly
UK sitesLondon Queen square
Contact detailsu.kugathasan@ucl.ac.uk


HSN1 secondary to SPTLC1 and 2 genes mutations is the commonest of the Hereditary Sensory Neuropathies.

This disease progresses slowly leading to profound loss of sensation especially pain and temperature sensation with variable but often severe motor involvement.

Most patients have sensory complications such as recurrent ulcers; osteomyelitis and amputations are common. Over time, there is considerable disability requiring extensive carer support.

We have a unique population within the UK where all the SPTCL1 patients (56) have the same mutation (C133W).

Despite this, there is significant heterogeneity in the phenotype. There is a need for clinical trials in the UK HSN1 population but outcome measures have to be identified first.

Study information

This is a longitudinal study

Primary objective: to find the best way of measuring diseases progression in HSN1. The data from this study could be used in a clinical trial.

A variety of assessments (to cover all of deficits noted in this condition) will be performed and repeated after a year. These include:

  • CMT Neuropathy Score
  • Comprehensive neurophysiological assessment
  • Quantitative Sensory Testing (DFNS protocol)
  • Muscle MRI studies of the thighs and calves
  • Machine myometry
  • Analysis of plasma DSB levels
  • Upper thigh skin biopsy (epidermal nerve fibre density measurements)
  • Patient questionnaires (SF36 and NPSI)