Quality of Life and Rare Disease: Lessons from Spinal Muscular Atrophy

Article by: Chris Sampson

The measurement of quality of life in the context of spinal muscular atrophy (SMA) is challenging. This is because the disease is experienced by children and is rare, which makes data collection difficult. Our latest Briefing reports on a symposium that outlined some lessons that can be learnt from the SMA context that might be more widely applicable.

At ISPOR Europe 2018, Martina Garau moderated an educational symposium titled ‘How Should We Measure Quality of Life Impact in Rare Disease? Recent Learnings in Spinal Muscular Atrophy’. The symposium speakers were Huub van Rijswijck, Julio Lopez Bastida, Andrew Lloyd, and Josie Godfrey. The discussion that was held at the symposium is now reported in a new OHE Briefing by Chris Sampson and Martina Garau.

The Briefing outlines each speaker’s perspective on quality of life measurement in SMA and rare diseases more broadly. Based on the discussion, we highlight four possible strategies for improving the quantity and quality of data available to inform decisionmakers in the context of rare diseases:

  • Bespoke data collection which is relevant to health technology assessment decisionmakers;
  • Simple economic modelling methods, which reflect the evidence available at the time of the assessment;
  • Collaboration among the different parties involved; and
  • Identifying what is ‘good enough’ to inform decision-making on use at the time of launch or of the health technology assessment process.

New approaches to research could facilitate health technology assessment processes and improve patients’ access to cost-effective treatments for rare diseases.

For more information, contact Chris Sampson.


Sampson, C. and Garau, M., 2019. How Should We Measure Quality of Life Impact in Rare Disease? Recent Learnings in Spinal Muscular Atrophy. OHE Briefing, London: Office of Health Economics. RePEc.

Related research

Towse, A. and Garau, M., 2018. Appraising Ultra-Orphan Drugs: Is Cost-Per-QALY Appropriate? A Review of the Evidence. OHE Consulting Report. RePEc.

Berdud, M., Drummond, M.F., and Towse, A., 2018. Establishing a Reasonable Price for an Orphan Drug. OHE Research Paper. RePEc.

Zamora, B., Maignen, F., O’Neill, P., Mestre-Ferrandiz, J. and Garau, M., 2017. Comparing Access to Orphan Medicinal Products (OMPs) in the United Kingdom and other European Countries. OHE Consulting Report. RePEc.

Posted in Educational, EQ-5D and PROMs, Health Technology Assessment | Tagged Briefing